Chronic necrotizing granulomatous skin lesions and MHC class I deficiency syndrome due to TAP2 deficiency Article Swipe
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· 2022
· Open Access
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· DOI: https://doi.org/10.21203/rs.3.rs-1294904/v1
Major histocompatibility complexes class I (MHC- I) deficiency, also known as bare lymphocyte syndrome type 1 (BLS-1), is a rare autosomal recessively inherited immunodeficiency disorder with remarkable clinical and biological heterogeneity. Transporter associated with antigen processing (TAP) is a member of the ATP-binding cassette superfamily of transporters and consists of two subunits, TAP1 or TAP2. Any defect resulting from a mutation or deletion of these two subunits, adversely affects the peptide translocation in the endoplasmic reticulum, which is an important process for the proper assembly of MHC- I molecules. To date, few patients with reduced cell surface expression of MHC-I molecules have been reported. Herein; we described two Iranian cases with 2 and 3 decades delayed diagnosis of chronic necrotizing granulomatous skin lesions due to TAP2 deficiency without pulmonary involvement; and then segregation analysis in family members was performed by PCR and Sanger sequencing among 10 members of their family and found three homozygous mutation in three asymptomatic patients.
Related Topics
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.21203/rs.3.rs-1294904/v1
- https://www.researchsquare.com/article/rs-1294904/latest.pdf
- OA Status
- gold
- Cited By
- 1
- References
- 11
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4213041326
Raw OpenAlex JSON
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https://openalex.org/W4213041326Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.21203/rs.3.rs-1294904/v1Digital Object Identifier
- Title
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Chronic necrotizing granulomatous skin lesions and MHC class I deficiency syndrome due to TAP2 deficiencyWork title
- Type
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preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-02-15Full publication date if available
- Authors
-
Ilad Alavi Darazam, Mohammad Shahrooei, Atousa Hakamifard, Nasrin Alipour Olyaei, Farahnaz Bidari Zerehpoosh, Farid Javandoust Gharehbagh, Firouze Hatami, Legha Lotfollahi, Nahal Mansouri, Jean‐Laurent Casanova, Davood MansouriList of authors in order
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https://doi.org/10.21203/rs.3.rs-1294904/v1Publisher landing page
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https://www.researchsquare.com/article/rs-1294904/latest.pdfDirect link to full text PDF
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
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https://www.researchsquare.com/article/rs-1294904/latest.pdfDirect OA link when available
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Medicine, Chronic granulomatous disease, Skin lesion, Immunology, PathologyTop concepts (fields/topics) attached by OpenAlex
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1Total citation count in OpenAlex
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2022: 1Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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| sustainable_development_goals[0].score | 0.7799999713897705 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.37558164 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |