Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations Article Swipe
Shiva Saghafi
,
Fariborz Zandieh
,
Mohammad Reza Fazlollahi
,
Cristina Glocker
,
Natalie Frede
,
Mary Buchta
,
Linlin Yang
,
Amir Hossein Mahmoudi
,
Massoud Houshmand
,
Zahra Pourpak
,
Bodo Grimbacher
,
Mostafa Moin
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.18502/ijaai.v21i3.9809
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.18502/ijaai.v21i3.9809
Early diagnosis of primary immunodeficiencies is crucial for timely treatment and preventing unwanted complications. Next-generation sequencing (NGS) and detailed clinical and immunological evaluation can help early detect such disorders. This study aimed to confirm the diagnosis of two cases of autosomal recessive hyper-immunoglobulin E (IgE) syndrome (AR-HIES), presenting with irreversible eye involvement. Two unrelated patients with suspected AR-HIES were referred to the Immunology, Asthma and Allergy Research Institute (IAARI), Tehran, Iran. Immunological screening tests were performed for AR-HIES, which showed elevated serum IgE levels, eosinophilia, and low T-lymphocyte responses. NGS was performed, and the results were confirmed by Sanger sequencing. Sequence analysis showed a mutation in intron 17 of the dedicator of cytokinesis 8 (DOCK8) gene in the first patient, and a homozygous three base-pair deletion in exon 45 of DOCK8 in the second patient. This is the first time such mutations are reported and these variants are predicted to be damaging. Both patients suffered from persistent viral infections along with cytomegalovirus (CMV) retinitis. Suspicion of these two novel DOCK8 mutations can benefit patients presenting with recalcitrant ophthalmic viral involvements and relevant immunological test results. This would lead to earlier referrals for immunologic and genetic confirmation and thus, a more timely intervention with hematopoietic stem cell transplantation (HSCT).
Related Topics
Concepts
Medicine
Sanger sequencing
Primary immunodeficiency
Immunology
Eosinophilia
Immunoglobulin E
Genetic testing
Cytomegalovirus
Gene mutation
DNA sequencing
Mutation
Antibody
Biology
Gene
Genetics
Virus
Internal medicine
Immune system
Viral disease
Herpesviridae
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.18502/ijaai.v21i3.9809
- OA Status
- gold
- Cited By
- 3
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4283398588
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4283398588Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.18502/ijaai.v21i3.9809Digital Object Identifier
- Title
-
Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 MutationsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-06-21Full publication date if available
- Authors
-
Shiva Saghafi, Fariborz Zandieh, Mohammad Reza Fazlollahi, Cristina Glocker, Natalie Frede, Mary Buchta, Linlin Yang, Amir Hossein Mahmoudi, Massoud Houshmand, Zahra Pourpak, Bodo Grimbacher, Mostafa MoinList of authors in order
- Landing page
-
https://doi.org/10.18502/ijaai.v21i3.9809Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.18502/ijaai.v21i3.9809Direct OA link when available
- Concepts
-
Medicine, Sanger sequencing, Primary immunodeficiency, Immunology, Eosinophilia, Immunoglobulin E, Genetic testing, Cytomegalovirus, Gene mutation, DNA sequencing, Mutation, Antibody, Biology, Gene, Genetics, Virus, Internal medicine, Immune system, Viral disease, HerpesviridaeTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
3Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 2Per-year citation counts (last 5 years)
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4283398588 |
|---|---|
| doi | https://doi.org/10.18502/ijaai.v21i3.9809 |
| ids.doi | https://doi.org/10.18502/ijaai.v21i3.9809 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/35822685 |
| ids.openalex | https://openalex.org/W4283398588 |
| fwci | 0.35428016 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D048749 |
| mesh[0].is_major_topic | True |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Cytokinesis |
| mesh[1].qualifier_ui | Q000235 |
| mesh[1].descriptor_ui | D020662 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | genetics |
| mesh[1].descriptor_name | Guanine Nucleotide Exchange Factors |
| mesh[2].qualifier_ui | |
| mesh[2].descriptor_ui | D006801 |
| mesh[2].is_major_topic | False |
| mesh[2].qualifier_name | |
| mesh[2].descriptor_name | Humans |
| mesh[3].qualifier_ui | Q000235 |
| mesh[3].descriptor_ui | D007073 |
| mesh[3].is_major_topic | False |
| mesh[3].qualifier_name | genetics |
| mesh[3].descriptor_name | Immunoglobulin E |
| mesh[4].qualifier_ui | |
| mesh[4].descriptor_ui | D007492 |
| mesh[4].is_major_topic | False |
| mesh[4].qualifier_name | |
| mesh[4].descriptor_name | Iran |
| mesh[5].qualifier_ui | Q000175 |
| mesh[5].descriptor_ui | D007589 |
| mesh[5].is_major_topic | True |
| mesh[5].qualifier_name | diagnosis |
| mesh[5].descriptor_name | Job Syndrome |
| mesh[6].qualifier_ui | Q000235 |
| mesh[6].descriptor_ui | D007589 |
| mesh[6].is_major_topic | True |
| mesh[6].qualifier_name | genetics |
| mesh[6].descriptor_name | Job Syndrome |
| mesh[7].qualifier_ui | |
| mesh[7].descriptor_ui | D009154 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | |
| mesh[7].descriptor_name | Mutation |
| mesh[8].qualifier_ui | |
| mesh[8].descriptor_ui | D048749 |
| mesh[8].is_major_topic | True |
| mesh[8].qualifier_name | |
| mesh[8].descriptor_name | Cytokinesis |
| mesh[9].qualifier_ui | Q000235 |
| mesh[9].descriptor_ui | D020662 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | genetics |
| mesh[9].descriptor_name | Guanine Nucleotide Exchange Factors |
| mesh[10].qualifier_ui | |
| mesh[10].descriptor_ui | D006801 |
| mesh[10].is_major_topic | False |
| mesh[10].qualifier_name | |
| mesh[10].descriptor_name | Humans |
| mesh[11].qualifier_ui | Q000235 |
| mesh[11].descriptor_ui | D007073 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | genetics |
| mesh[11].descriptor_name | Immunoglobulin E |
| mesh[12].qualifier_ui | |
| mesh[12].descriptor_ui | D007492 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | |
| mesh[12].descriptor_name | Iran |
| mesh[13].qualifier_ui | Q000175 |
| mesh[13].descriptor_ui | D007589 |
| mesh[13].is_major_topic | True |
| mesh[13].qualifier_name | diagnosis |
| mesh[13].descriptor_name | Job Syndrome |
| mesh[14].qualifier_ui | Q000235 |
| mesh[14].descriptor_ui | D007589 |
| mesh[14].is_major_topic | True |
| mesh[14].qualifier_name | genetics |
| mesh[14].descriptor_name | Job Syndrome |
| mesh[15].qualifier_ui | |
| mesh[15].descriptor_ui | D009154 |
| mesh[15].is_major_topic | False |
| mesh[15].qualifier_name | |
| mesh[15].descriptor_name | Mutation |
| type | article |
| title | Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations |
| biblio.issue | 3 |
| biblio.volume | 21 |
| biblio.last_page | 363 |
| biblio.first_page | 355 |
| topics[0].id | https://openalex.org/T11725 |
| topics[0].field.id | https://openalex.org/fields/24 |
| topics[0].field.display_name | Immunology and Microbiology |
| topics[0].score | 0.9991000294685364 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/2403 |
| topics[0].subfield.display_name | Immunology |
| topics[0].display_name | Immunodeficiency and Autoimmune Disorders |
| topics[1].id | https://openalex.org/T12919 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9876999855041504 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1311 |
| topics[1].subfield.display_name | Genetics |
| topics[1].display_name | Blood disorders and treatments |
| topics[2].id | https://openalex.org/T12068 |
| topics[2].field.id | https://openalex.org/fields/27 |
| topics[2].field.display_name | Medicine |
| topics[2].score | 0.9650999903678894 |
| topics[2].domain.id | https://openalex.org/domains/4 |
| topics[2].domain.display_name | Health Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2735 |
| topics[2].subfield.display_name | Pediatrics, Perinatology and Child Health |
| topics[2].display_name | Neonatal Health and Biochemistry |
| is_xpac | False |
| apc_list.value | 300 |
| apc_list.currency | USD |
| apc_list.value_usd | 300 |
| apc_paid.value | 300 |
| apc_paid.currency | USD |
| apc_paid.value_usd | 300 |
| concepts[0].id | https://openalex.org/C71924100 |
| concepts[0].level | 0 |
| concepts[0].score | 0.6376175880432129 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[0].display_name | Medicine |
| concepts[1].id | https://openalex.org/C76818968 |
| concepts[1].level | 4 |
| concepts[1].score | 0.6354670524597168 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q181940 |
| concepts[1].display_name | Sanger sequencing |
| concepts[2].id | https://openalex.org/C2779019163 |
| concepts[2].level | 3 |
| concepts[2].score | 0.5425394773483276 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q3043160 |
| concepts[2].display_name | Primary immunodeficiency |
| concepts[3].id | https://openalex.org/C203014093 |
| concepts[3].level | 1 |
| concepts[3].score | 0.5367885828018188 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q101929 |
| concepts[3].display_name | Immunology |
| concepts[4].id | https://openalex.org/C2777129736 |
| concepts[4].level | 2 |
| concepts[4].score | 0.5161629319190979 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q505142 |
| concepts[4].display_name | Eosinophilia |
| concepts[5].id | https://openalex.org/C141105273 |
| concepts[5].level | 3 |
| concepts[5].score | 0.47325900197029114 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q79455 |
| concepts[5].display_name | Immunoglobulin E |
| concepts[6].id | https://openalex.org/C2780673598 |
| concepts[6].level | 2 |
| concepts[6].score | 0.4525316655635834 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q285223 |
| concepts[6].display_name | Genetic testing |
| concepts[7].id | https://openalex.org/C2777732132 |
| concepts[7].level | 5 |
| concepts[7].score | 0.4460158348083496 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q6946 |
| concepts[7].display_name | Cytomegalovirus |
| concepts[8].id | https://openalex.org/C2994225774 |
| concepts[8].level | 4 |
| concepts[8].score | 0.41867348551750183 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q42918 |
| concepts[8].display_name | Gene mutation |
| concepts[9].id | https://openalex.org/C51679486 |
| concepts[9].level | 3 |
| concepts[9].score | 0.3304207921028137 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q380546 |
| concepts[9].display_name | DNA sequencing |
| concepts[10].id | https://openalex.org/C501734568 |
| concepts[10].level | 3 |
| concepts[10].score | 0.2799297869205475 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q42918 |
| concepts[10].display_name | Mutation |
| concepts[11].id | https://openalex.org/C159654299 |
| concepts[11].level | 2 |
| concepts[11].score | 0.26629242300987244 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q79460 |
| concepts[11].display_name | Antibody |
| concepts[12].id | https://openalex.org/C86803240 |
| concepts[12].level | 0 |
| concepts[12].score | 0.22394007444381714 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[12].display_name | Biology |
| concepts[13].id | https://openalex.org/C104317684 |
| concepts[13].level | 2 |
| concepts[13].score | 0.19282746315002441 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[13].display_name | Gene |
| concepts[14].id | https://openalex.org/C54355233 |
| concepts[14].level | 1 |
| concepts[14].score | 0.1569558084011078 |
| concepts[14].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[14].display_name | Genetics |
| concepts[15].id | https://openalex.org/C2522874641 |
| concepts[15].level | 2 |
| concepts[15].score | 0.13839879631996155 |
| concepts[15].wikidata | https://www.wikidata.org/wiki/Q808 |
| concepts[15].display_name | Virus |
| concepts[16].id | https://openalex.org/C126322002 |
| concepts[16].level | 1 |
| concepts[16].score | 0.12457355856895447 |
| concepts[16].wikidata | https://www.wikidata.org/wiki/Q11180 |
| concepts[16].display_name | Internal medicine |
| concepts[17].id | https://openalex.org/C8891405 |
| concepts[17].level | 2 |
| concepts[17].score | 0.11577311158180237 |
| concepts[17].wikidata | https://www.wikidata.org/wiki/Q1059 |
| concepts[17].display_name | Immune system |
| concepts[18].id | https://openalex.org/C2780727368 |
| concepts[18].level | 3 |
| concepts[18].score | 0.10086408257484436 |
| concepts[18].wikidata | https://www.wikidata.org/wiki/Q1928978 |
| concepts[18].display_name | Viral disease |
| concepts[19].id | https://openalex.org/C2776409557 |
| concepts[19].level | 4 |
| concepts[19].score | 0.0 |
| concepts[19].wikidata | https://www.wikidata.org/wiki/Q149348 |
| concepts[19].display_name | Herpesviridae |
| keywords[0].id | https://openalex.org/keywords/medicine |
| keywords[0].score | 0.6376175880432129 |
| keywords[0].display_name | Medicine |
| keywords[1].id | https://openalex.org/keywords/sanger-sequencing |
| keywords[1].score | 0.6354670524597168 |
| keywords[1].display_name | Sanger sequencing |
| keywords[2].id | https://openalex.org/keywords/primary-immunodeficiency |
| keywords[2].score | 0.5425394773483276 |
| keywords[2].display_name | Primary immunodeficiency |
| keywords[3].id | https://openalex.org/keywords/immunology |
| keywords[3].score | 0.5367885828018188 |
| keywords[3].display_name | Immunology |
| keywords[4].id | https://openalex.org/keywords/eosinophilia |
| keywords[4].score | 0.5161629319190979 |
| keywords[4].display_name | Eosinophilia |
| keywords[5].id | https://openalex.org/keywords/immunoglobulin-e |
| keywords[5].score | 0.47325900197029114 |
| keywords[5].display_name | Immunoglobulin E |
| keywords[6].id | https://openalex.org/keywords/genetic-testing |
| keywords[6].score | 0.4525316655635834 |
| keywords[6].display_name | Genetic testing |
| keywords[7].id | https://openalex.org/keywords/cytomegalovirus |
| keywords[7].score | 0.4460158348083496 |
| keywords[7].display_name | Cytomegalovirus |
| keywords[8].id | https://openalex.org/keywords/gene-mutation |
| keywords[8].score | 0.41867348551750183 |
| keywords[8].display_name | Gene mutation |
| keywords[9].id | https://openalex.org/keywords/dna-sequencing |
| keywords[9].score | 0.3304207921028137 |
| keywords[9].display_name | DNA sequencing |
| keywords[10].id | https://openalex.org/keywords/mutation |
| keywords[10].score | 0.2799297869205475 |
| keywords[10].display_name | Mutation |
| keywords[11].id | https://openalex.org/keywords/antibody |
| keywords[11].score | 0.26629242300987244 |
| keywords[11].display_name | Antibody |
| keywords[12].id | https://openalex.org/keywords/biology |
| keywords[12].score | 0.22394007444381714 |
| keywords[12].display_name | Biology |
| keywords[13].id | https://openalex.org/keywords/gene |
| keywords[13].score | 0.19282746315002441 |
| keywords[13].display_name | Gene |
| keywords[14].id | https://openalex.org/keywords/genetics |
| keywords[14].score | 0.1569558084011078 |
| keywords[14].display_name | Genetics |
| keywords[15].id | https://openalex.org/keywords/virus |
| keywords[15].score | 0.13839879631996155 |
| keywords[15].display_name | Virus |
| keywords[16].id | https://openalex.org/keywords/internal-medicine |
| keywords[16].score | 0.12457355856895447 |
| keywords[16].display_name | Internal medicine |
| keywords[17].id | https://openalex.org/keywords/immune-system |
| keywords[17].score | 0.11577311158180237 |
| keywords[17].display_name | Immune system |
| keywords[18].id | https://openalex.org/keywords/viral-disease |
| keywords[18].score | 0.10086408257484436 |
| keywords[18].display_name | Viral disease |
| language | en |
| locations[0].id | doi:10.18502/ijaai.v21i3.9809 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S1030997278 |
| locations[0].source.issn | 1735-1502, 1735-5249 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | True |
| locations[0].source.issn_l | 1735-1502 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | True |
| locations[0].source.display_name | Iranian Journal of Allergy Asthma and Immunology |
| locations[0].source.host_organization | https://openalex.org/P4310319396 |
| locations[0].source.host_organization_name | Knowledge E |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310319396 |
| locations[0].source.host_organization_lineage_names | Knowledge E |
| locations[0].license | cc-by-nc |
| locations[0].pdf_url | |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by-nc |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Iranian Journal of Allergy, Asthma and Immunology |
| locations[0].landing_page_url | https://doi.org/10.18502/ijaai.v21i3.9809 |
| locations[1].id | pmid:35822685 |
| locations[1].is_oa | False |
| locations[1].source.id | https://openalex.org/S4306525036 |
| locations[1].source.issn | |
| locations[1].source.type | repository |
| locations[1].source.is_oa | False |
| locations[1].source.issn_l | |
| locations[1].source.is_core | False |
| locations[1].source.is_in_doaj | False |
| locations[1].source.display_name | PubMed |
| locations[1].source.host_organization | https://openalex.org/I1299303238 |
| locations[1].source.host_organization_name | National Institutes of Health |
| locations[1].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[1].license | |
| locations[1].pdf_url | |
| locations[1].version | publishedVersion |
| locations[1].raw_type | |
| locations[1].license_id | |
| locations[1].is_accepted | True |
| locations[1].is_published | True |
| locations[1].raw_source_name | Iranian journal of allergy, asthma, and immunology |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/35822685 |
| locations[2].id | pmh:oai:doaj.org/article:bfb98de19e6a411b9c6755e881f353e2 |
| locations[2].is_oa | True |
| locations[2].source.id | https://openalex.org/S4306401280 |
| locations[2].source.issn | |
| locations[2].source.type | repository |
| locations[2].source.is_oa | False |
| locations[2].source.issn_l | |
| locations[2].source.is_core | False |
| locations[2].source.is_in_doaj | False |
| locations[2].source.display_name | DOAJ (DOAJ: Directory of Open Access Journals) |
| locations[2].source.host_organization | |
| locations[2].source.host_organization_name | |
| locations[2].license | cc-by-sa |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | article |
| locations[2].license_id | https://openalex.org/licenses/cc-by-sa |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | Iranian Journal of Allergy, Asthma and Immunology, Vol 21, Iss 3 (2022) |
| locations[2].landing_page_url | https://doaj.org/article/bfb98de19e6a411b9c6755e881f353e2 |
| indexed_in | crossref, doaj, pubmed |
| authorships[0].author.id | https://openalex.org/A5021189033 |
| authorships[0].author.orcid | https://orcid.org/0000-0001-8546-3247 |
| authorships[0].author.display_name | Shiva Saghafi |
| authorships[0].countries | IR |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I4210112675, https://openalex.org/I70640408 |
| authorships[0].affiliations[0].raw_affiliation_string | Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran. [email protected]. |
| authorships[0].institutions[0].id | https://openalex.org/I4210112675 |
| authorships[0].institutions[0].ror | https://ror.org/01v27vf29 |
| authorships[0].institutions[0].type | healthcare |
| authorships[0].institutions[0].lineage | https://openalex.org/I4210112675 |
| authorships[0].institutions[0].country_code | IR |
| authorships[0].institutions[0].display_name | Children's Medical Center |
| authorships[0].institutions[1].id | https://openalex.org/I70640408 |
| authorships[0].institutions[1].ror | https://ror.org/01c4pz451 |
| authorships[0].institutions[1].type | education |
| authorships[0].institutions[1].lineage | https://openalex.org/I70640408 |
| authorships[0].institutions[1].country_code | IR |
| authorships[0].institutions[1].display_name | Tehran University of Medical Sciences |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Shiva Saghafi |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran. [email protected]. |
| authorships[1].author.id | https://openalex.org/A5075626722 |
| authorships[1].author.orcid | |
| authorships[1].author.display_name | Fariborz Zandieh |
| authorships[1].countries | IR |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I70640408 |
| authorships[1].affiliations[0].raw_affiliation_string | Department of Asthma, Allergy, and Immunology, Bahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran. [email protected]. |
| authorships[1].institutions[0].id | https://openalex.org/I70640408 |
| authorships[1].institutions[0].ror | https://ror.org/01c4pz451 |
| authorships[1].institutions[0].type | education |
| authorships[1].institutions[0].lineage | https://openalex.org/I70640408 |
| authorships[1].institutions[0].country_code | IR |
| authorships[1].institutions[0].display_name | Tehran University of Medical Sciences |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Fariborz Zandieh |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Department of Asthma, Allergy, and Immunology, Bahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran. [email protected]. |
| authorships[2].author.id | https://openalex.org/A5028759521 |
| authorships[2].author.orcid | https://orcid.org/0000-0002-1454-3933 |
| authorships[2].author.display_name | Mohammad Reza Fazlollahi |
| authorships[2].countries | IR |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I4210112675, https://openalex.org/I70640408 |
| authorships[2].affiliations[0].raw_affiliation_string | Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran. [email protected]. |
| authorships[2].institutions[0].id | https://openalex.org/I4210112675 |
| authorships[2].institutions[0].ror | https://ror.org/01v27vf29 |
| authorships[2].institutions[0].type | healthcare |
| authorships[2].institutions[0].lineage | https://openalex.org/I4210112675 |
| authorships[2].institutions[0].country_code | IR |
| authorships[2].institutions[0].display_name | Children's Medical Center |
| authorships[2].institutions[1].id | https://openalex.org/I70640408 |
| authorships[2].institutions[1].ror | https://ror.org/01c4pz451 |
| authorships[2].institutions[1].type | education |
| authorships[2].institutions[1].lineage | https://openalex.org/I70640408 |
| authorships[2].institutions[1].country_code | IR |
| authorships[2].institutions[1].display_name | Tehran University of Medical Sciences |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Mohammad Reza Fazlollahi |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran. [email protected]. |
| authorships[3].author.id | https://openalex.org/A5084743215 |
| authorships[3].author.orcid | |
| authorships[3].author.display_name | Cristina Glocker |
| authorships[3].countries | DE |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I161046081, https://openalex.org/I2801240073 |
| authorships[3].affiliations[0].raw_affiliation_string | Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany AND Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Germany. [email protected]. |
| authorships[3].institutions[0].id | https://openalex.org/I2801240073 |
| authorships[3].institutions[0].ror | https://ror.org/03vzbgh69 |
| authorships[3].institutions[0].type | healthcare |
| authorships[3].institutions[0].lineage | https://openalex.org/I2801240073 |
| authorships[3].institutions[0].country_code | DE |
| authorships[3].institutions[0].display_name | University Medical Center Freiburg |
| authorships[3].institutions[1].id | https://openalex.org/I161046081 |
| authorships[3].institutions[1].ror | https://ror.org/0245cg223 |
| authorships[3].institutions[1].type | education |
| authorships[3].institutions[1].lineage | https://openalex.org/I161046081 |
| authorships[3].institutions[1].country_code | DE |
| authorships[3].institutions[1].display_name | University of Freiburg |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Cristina Glocker |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany AND Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Germany. [email protected]. |
| authorships[4].author.id | https://openalex.org/A5089693016 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-6415-6376 |
| authorships[4].author.display_name | Natalie Frede |
| authorships[4].countries | DE |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I161046081, https://openalex.org/I2801240073 |
| authorships[4].affiliations[0].raw_affiliation_string | Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany. [email protected]. |
| authorships[4].institutions[0].id | https://openalex.org/I2801240073 |
| authorships[4].institutions[0].ror | https://ror.org/03vzbgh69 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I2801240073 |
| authorships[4].institutions[0].country_code | DE |
| authorships[4].institutions[0].display_name | University Medical Center Freiburg |
| authorships[4].institutions[1].id | https://openalex.org/I161046081 |
| authorships[4].institutions[1].ror | https://ror.org/0245cg223 |
| authorships[4].institutions[1].type | education |
| authorships[4].institutions[1].lineage | https://openalex.org/I161046081 |
| authorships[4].institutions[1].country_code | DE |
| authorships[4].institutions[1].display_name | University of Freiburg |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Natalie Frede |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany. [email protected]. |
| authorships[5].author.id | https://openalex.org/A5089955041 |
| authorships[5].author.orcid | |
| authorships[5].author.display_name | Mary Buchta |
| authorships[5].countries | DE |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I161046081, https://openalex.org/I2801240073 |
| authorships[5].affiliations[0].raw_affiliation_string | Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany. [email protected]. |
| authorships[5].institutions[0].id | https://openalex.org/I2801240073 |
| authorships[5].institutions[0].ror | https://ror.org/03vzbgh69 |
| authorships[5].institutions[0].type | healthcare |
| authorships[5].institutions[0].lineage | https://openalex.org/I2801240073 |
| authorships[5].institutions[0].country_code | DE |
| authorships[5].institutions[0].display_name | University Medical Center Freiburg |
| authorships[5].institutions[1].id | https://openalex.org/I161046081 |
| authorships[5].institutions[1].ror | https://ror.org/0245cg223 |
| authorships[5].institutions[1].type | education |
| authorships[5].institutions[1].lineage | https://openalex.org/I161046081 |
| authorships[5].institutions[1].country_code | DE |
| authorships[5].institutions[1].display_name | University of Freiburg |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Mary Buchta |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany. [email protected]. |
| authorships[6].author.id | https://openalex.org/A5100569858 |
| authorships[6].author.orcid | |
| authorships[6].author.display_name | Linlin Yang |
| authorships[6].countries | DE |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I161046081 |
| authorships[6].affiliations[0].raw_affiliation_string | Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany. [email protected]. |
| authorships[6].institutions[0].id | https://openalex.org/I161046081 |
| authorships[6].institutions[0].ror | https://ror.org/0245cg223 |
| authorships[6].institutions[0].type | education |
| authorships[6].institutions[0].lineage | https://openalex.org/I161046081 |
| authorships[6].institutions[0].country_code | DE |
| authorships[6].institutions[0].display_name | University of Freiburg |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Linlin Yang |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany. [email protected]. |
| authorships[7].author.id | https://openalex.org/A5020910283 |
| authorships[7].author.orcid | https://orcid.org/0009-0007-8757-198X |
| authorships[7].author.display_name | Amir Hossein Mahmoudi |
| authorships[7].countries | IR |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I4210153882 |
| authorships[7].affiliations[0].raw_affiliation_string | Novin Didegan Eye Clinic, Tehran, Iran. [email protected]. |
| authorships[7].institutions[0].id | https://openalex.org/I4210153882 |
| authorships[7].institutions[0].ror | https://ror.org/04q5vh665 |
| authorships[7].institutions[0].type | healthcare |
| authorships[7].institutions[0].lineage | https://openalex.org/I4210153882 |
| authorships[7].institutions[0].country_code | IR |
| authorships[7].institutions[0].display_name | Novindiet Clinic |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Amir Hossein Mahmoudi |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Novin Didegan Eye Clinic, Tehran, Iran. [email protected]. |
| authorships[8].author.id | https://openalex.org/A5060815927 |
| authorships[8].author.orcid | https://orcid.org/0000-0002-2198-223X |
| authorships[8].author.display_name | Massoud Houshmand |
| authorships[8].countries | IR |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I4210137727 |
| authorships[8].affiliations[0].raw_affiliation_string | Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran. [email protected]. |
| authorships[8].institutions[0].id | https://openalex.org/I4210137727 |
| authorships[8].institutions[0].ror | https://ror.org/03ckh6215 |
| authorships[8].institutions[0].type | facility |
| authorships[8].institutions[0].lineage | https://openalex.org/I4210137727 |
| authorships[8].institutions[0].country_code | IR |
| authorships[8].institutions[0].display_name | National Institute of Genetic Engineering and Biotechnology |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Massoud Houshmand |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran. [email protected]. |
| authorships[9].author.id | https://openalex.org/A5061790555 |
| authorships[9].author.orcid | https://orcid.org/0000-0002-4422-719X |
| authorships[9].author.display_name | Zahra Pourpak |
| authorships[9].countries | IR |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I4210112675, https://openalex.org/I70640408 |
| authorships[9].affiliations[0].raw_affiliation_string | Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran. [email protected]. |
| authorships[9].institutions[0].id | https://openalex.org/I4210112675 |
| authorships[9].institutions[0].ror | https://ror.org/01v27vf29 |
| authorships[9].institutions[0].type | healthcare |
| authorships[9].institutions[0].lineage | https://openalex.org/I4210112675 |
| authorships[9].institutions[0].country_code | IR |
| authorships[9].institutions[0].display_name | Children's Medical Center |
| authorships[9].institutions[1].id | https://openalex.org/I70640408 |
| authorships[9].institutions[1].ror | https://ror.org/01c4pz451 |
| authorships[9].institutions[1].type | education |
| authorships[9].institutions[1].lineage | https://openalex.org/I70640408 |
| authorships[9].institutions[1].country_code | IR |
| authorships[9].institutions[1].display_name | Tehran University of Medical Sciences |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Zahra Pourpak |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran. [email protected]. |
| authorships[10].author.id | https://openalex.org/A5070228992 |
| authorships[10].author.orcid | https://orcid.org/0000-0002-6897-6806 |
| authorships[10].author.display_name | Bodo Grimbacher |
| authorships[10].countries | DE |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I161046081, https://openalex.org/I4210115305 |
| authorships[10].affiliations[0].raw_affiliation_string | Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany AND DZIF- German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany AND CIBSS-Centre for Integrative Biological Signaling Studies, Albert Ludwig University, Freiburg, Germany AND RESIST-Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany. [email protected]. |
| authorships[10].institutions[0].id | https://openalex.org/I4210115305 |
| authorships[10].institutions[0].ror | https://ror.org/028s4q594 |
| authorships[10].institutions[0].type | facility |
| authorships[10].institutions[0].lineage | https://openalex.org/I4210115305, https://openalex.org/I4411590659 |
| authorships[10].institutions[0].country_code | DE |
| authorships[10].institutions[0].display_name | German Center for Infection Research |
| authorships[10].institutions[1].id | https://openalex.org/I161046081 |
| authorships[10].institutions[1].ror | https://ror.org/0245cg223 |
| authorships[10].institutions[1].type | education |
| authorships[10].institutions[1].lineage | https://openalex.org/I161046081 |
| authorships[10].institutions[1].country_code | DE |
| authorships[10].institutions[1].display_name | University of Freiburg |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Bodo Grimbacher |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany AND DZIF- German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany AND CIBSS-Centre for Integrative Biological Signaling Studies, Albert Ludwig University, Freiburg, Germany AND RESIST-Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany. [email protected]. |
| authorships[11].author.id | https://openalex.org/A5018440959 |
| authorships[11].author.orcid | |
| authorships[11].author.display_name | Mostafa Moin |
| authorships[11].countries | IR |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I4210112675, https://openalex.org/I70640408 |
| authorships[11].affiliations[0].raw_affiliation_string | Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran. [email protected]. |
| authorships[11].institutions[0].id | https://openalex.org/I4210112675 |
| authorships[11].institutions[0].ror | https://ror.org/01v27vf29 |
| authorships[11].institutions[0].type | healthcare |
| authorships[11].institutions[0].lineage | https://openalex.org/I4210112675 |
| authorships[11].institutions[0].country_code | IR |
| authorships[11].institutions[0].display_name | Children's Medical Center |
| authorships[11].institutions[1].id | https://openalex.org/I70640408 |
| authorships[11].institutions[1].ror | https://ror.org/01c4pz451 |
| authorships[11].institutions[1].type | education |
| authorships[11].institutions[1].lineage | https://openalex.org/I70640408 |
| authorships[11].institutions[1].country_code | IR |
| authorships[11].institutions[1].display_name | Tehran University of Medical Sciences |
| authorships[11].author_position | last |
| authorships[11].raw_author_name | Mostafa Moin |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran. [email protected]. |
| has_content.pdf | False |
| has_content.grobid_xml | False |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://doi.org/10.18502/ijaai.v21i3.9809 |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T11725 |
| primary_topic.field.id | https://openalex.org/fields/24 |
| primary_topic.field.display_name | Immunology and Microbiology |
| primary_topic.score | 0.9991000294685364 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/2403 |
| primary_topic.subfield.display_name | Immunology |
| primary_topic.display_name | Immunodeficiency and Autoimmune Disorders |
| related_works | https://openalex.org/W2319842459, https://openalex.org/W3001188280, https://openalex.org/W4366483824, https://openalex.org/W2106831493, https://openalex.org/W1971456741, https://openalex.org/W2894739703, https://openalex.org/W4206292362, https://openalex.org/W3012494732, https://openalex.org/W2393895305, https://openalex.org/W3018284688 |
| cited_by_count | 3 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 1 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 2 |
| locations_count | 3 |
| best_oa_location.id | doi:10.18502/ijaai.v21i3.9809 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S1030997278 |
| best_oa_location.source.issn | 1735-1502, 1735-5249 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | True |
| best_oa_location.source.issn_l | 1735-1502 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | True |
| best_oa_location.source.display_name | Iranian Journal of Allergy Asthma and Immunology |
| best_oa_location.source.host_organization | https://openalex.org/P4310319396 |
| best_oa_location.source.host_organization_name | Knowledge E |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310319396 |
| best_oa_location.source.host_organization_lineage_names | Knowledge E |
| best_oa_location.license | cc-by-nc |
| best_oa_location.pdf_url | |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by-nc |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Iranian Journal of Allergy, Asthma and Immunology |
| best_oa_location.landing_page_url | https://doi.org/10.18502/ijaai.v21i3.9809 |
| primary_location.id | doi:10.18502/ijaai.v21i3.9809 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S1030997278 |
| primary_location.source.issn | 1735-1502, 1735-5249 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | True |
| primary_location.source.issn_l | 1735-1502 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | True |
| primary_location.source.display_name | Iranian Journal of Allergy Asthma and Immunology |
| primary_location.source.host_organization | https://openalex.org/P4310319396 |
| primary_location.source.host_organization_name | Knowledge E |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310319396 |
| primary_location.source.host_organization_lineage_names | Knowledge E |
| primary_location.license | cc-by-nc |
| primary_location.pdf_url | |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by-nc |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Iranian Journal of Allergy, Asthma and Immunology |
| primary_location.landing_page_url | https://doi.org/10.18502/ijaai.v21i3.9809 |
| publication_date | 2022-06-21 |
| publication_year | 2022 |
| referenced_works_count | 0 |
| abstract_inverted_index.8 | 113 |
| abstract_inverted_index.E | 43 |
| abstract_inverted_index.a | 103, 121, 198 |
| abstract_inverted_index.17 | 107 |
| abstract_inverted_index.45 | 128 |
| abstract_inverted_index.be | 150 |
| abstract_inverted_index.by | 97 |
| abstract_inverted_index.in | 105, 116, 126, 131 |
| abstract_inverted_index.is | 5, 136 |
| abstract_inverted_index.of | 2, 36, 39, 108, 111, 129, 165 |
| abstract_inverted_index.to | 32, 60, 149, 188 |
| abstract_inverted_index.IgE | 82 |
| abstract_inverted_index.NGS | 89 |
| abstract_inverted_index.Two | 52 |
| abstract_inverted_index.and | 10, 17, 20, 64, 85, 92, 120, 144, 180, 193, 196 |
| abstract_inverted_index.are | 142, 147 |
| abstract_inverted_index.can | 23, 171 |
| abstract_inverted_index.eye | 50 |
| abstract_inverted_index.for | 7, 76, 191 |
| abstract_inverted_index.low | 86 |
| abstract_inverted_index.the | 34, 61, 93, 109, 117, 132, 137 |
| abstract_inverted_index.two | 37, 167 |
| abstract_inverted_index.was | 90 |
| abstract_inverted_index.Both | 152 |
| abstract_inverted_index.This | 29, 135, 185 |
| abstract_inverted_index.cell | 205 |
| abstract_inverted_index.exon | 127 |
| abstract_inverted_index.from | 155 |
| abstract_inverted_index.gene | 115 |
| abstract_inverted_index.help | 24 |
| abstract_inverted_index.lead | 187 |
| abstract_inverted_index.more | 199 |
| abstract_inverted_index.stem | 204 |
| abstract_inverted_index.such | 27, 140 |
| abstract_inverted_index.test | 183 |
| abstract_inverted_index.time | 139 |
| abstract_inverted_index.were | 58, 74, 95 |
| abstract_inverted_index.with | 48, 55, 160, 175, 202 |
| abstract_inverted_index.(CMV) | 162 |
| abstract_inverted_index.(IgE) | 44 |
| abstract_inverted_index.(NGS) | 16 |
| abstract_inverted_index.DOCK8 | 130, 169 |
| abstract_inverted_index.Early | 0 |
| abstract_inverted_index.Iran. | 70 |
| abstract_inverted_index.aimed | 31 |
| abstract_inverted_index.along | 159 |
| abstract_inverted_index.cases | 38 |
| abstract_inverted_index.early | 25 |
| abstract_inverted_index.first | 118, 138 |
| abstract_inverted_index.novel | 168 |
| abstract_inverted_index.serum | 81 |
| abstract_inverted_index.study | 30 |
| abstract_inverted_index.tests | 73 |
| abstract_inverted_index.these | 145, 166 |
| abstract_inverted_index.three | 123 |
| abstract_inverted_index.thus, | 197 |
| abstract_inverted_index.viral | 157, 178 |
| abstract_inverted_index.which | 78 |
| abstract_inverted_index.would | 186 |
| abstract_inverted_index.Asthma | 63 |
| abstract_inverted_index.Sanger | 98 |
| abstract_inverted_index.detect | 26 |
| abstract_inverted_index.intron | 106 |
| abstract_inverted_index.second | 133 |
| abstract_inverted_index.showed | 79, 102 |
| abstract_inverted_index.timely | 8, 200 |
| abstract_inverted_index.(DOCK8) | 114 |
| abstract_inverted_index.(HSCT). | 207 |
| abstract_inverted_index.AR-HIES | 57 |
| abstract_inverted_index.Allergy | 65 |
| abstract_inverted_index.Tehran, | 69 |
| abstract_inverted_index.benefit | 172 |
| abstract_inverted_index.confirm | 33 |
| abstract_inverted_index.crucial | 6 |
| abstract_inverted_index.earlier | 189 |
| abstract_inverted_index.genetic | 194 |
| abstract_inverted_index.levels, | 83 |
| abstract_inverted_index.primary | 3 |
| abstract_inverted_index.results | 94 |
| abstract_inverted_index.(IAARI), | 68 |
| abstract_inverted_index.AR-HIES, | 77 |
| abstract_inverted_index.Research | 66 |
| abstract_inverted_index.Sequence | 100 |
| abstract_inverted_index.analysis | 101 |
| abstract_inverted_index.clinical | 19 |
| abstract_inverted_index.deletion | 125 |
| abstract_inverted_index.detailed | 18 |
| abstract_inverted_index.elevated | 80 |
| abstract_inverted_index.mutation | 104 |
| abstract_inverted_index.patient, | 119 |
| abstract_inverted_index.patient. | 134 |
| abstract_inverted_index.patients | 54, 153, 173 |
| abstract_inverted_index.referred | 59 |
| abstract_inverted_index.relevant | 181 |
| abstract_inverted_index.reported | 143 |
| abstract_inverted_index.results. | 184 |
| abstract_inverted_index.suffered | 154 |
| abstract_inverted_index.syndrome | 45 |
| abstract_inverted_index.unwanted | 12 |
| abstract_inverted_index.variants | 146 |
| abstract_inverted_index.Institute | 67 |
| abstract_inverted_index.Suspicion | 164 |
| abstract_inverted_index.autosomal | 40 |
| abstract_inverted_index.base-pair | 124 |
| abstract_inverted_index.confirmed | 96 |
| abstract_inverted_index.damaging. | 151 |
| abstract_inverted_index.dedicator | 110 |
| abstract_inverted_index.diagnosis | 1, 35 |
| abstract_inverted_index.mutations | 141, 170 |
| abstract_inverted_index.performed | 75 |
| abstract_inverted_index.predicted | 148 |
| abstract_inverted_index.recessive | 41 |
| abstract_inverted_index.referrals | 190 |
| abstract_inverted_index.screening | 72 |
| abstract_inverted_index.suspected | 56 |
| abstract_inverted_index.treatment | 9 |
| abstract_inverted_index.unrelated | 53 |
| abstract_inverted_index.(AR-HIES), | 46 |
| abstract_inverted_index.disorders. | 28 |
| abstract_inverted_index.evaluation | 22 |
| abstract_inverted_index.homozygous | 122 |
| abstract_inverted_index.infections | 158 |
| abstract_inverted_index.ophthalmic | 177 |
| abstract_inverted_index.performed, | 91 |
| abstract_inverted_index.persistent | 156 |
| abstract_inverted_index.presenting | 47, 174 |
| abstract_inverted_index.preventing | 11 |
| abstract_inverted_index.responses. | 88 |
| abstract_inverted_index.retinitis. | 163 |
| abstract_inverted_index.sequencing | 15 |
| abstract_inverted_index.Immunology, | 62 |
| abstract_inverted_index.cytokinesis | 112 |
| abstract_inverted_index.immunologic | 192 |
| abstract_inverted_index.sequencing. | 99 |
| abstract_inverted_index.T-lymphocyte | 87 |
| abstract_inverted_index.confirmation | 195 |
| abstract_inverted_index.intervention | 201 |
| abstract_inverted_index.involvement. | 51 |
| abstract_inverted_index.involvements | 179 |
| abstract_inverted_index.irreversible | 49 |
| abstract_inverted_index.recalcitrant | 176 |
| abstract_inverted_index.Immunological | 71 |
| abstract_inverted_index.eosinophilia, | 84 |
| abstract_inverted_index.hematopoietic | 203 |
| abstract_inverted_index.immunological | 21, 182 |
| abstract_inverted_index.complications. | 13 |
| abstract_inverted_index.Next-generation | 14 |
| abstract_inverted_index.cytomegalovirus | 161 |
| abstract_inverted_index.transplantation | 206 |
| abstract_inverted_index.immunodeficiencies | 4 |
| abstract_inverted_index.hyper-immunoglobulin | 42 |
| cited_by_percentile_year.max | 96 |
| cited_by_percentile_year.min | 91 |
| countries_distinct_count | 2 |
| institutions_distinct_count | 12 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.8199999928474426 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.51866368 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |