Recurrent Oral Aphtha, Diarrhea, Pneumonia, And Respiratory Distress Since Infancy: STAT1 GOF defect Article Swipe
ali cem kucukdagli
,
Elif Soyak Aytekin
,
Çağman Tan
,
Deniz Çağdaş
,
Nural Ki̇per
,
İlhan Tezcan
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.22541/au.160406480.03760699/v2
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.22541/au.160406480.03760699/v2
Backgrounds: Mutations in DNA-binding domains of STAT1 lead to delayed STAT1 dephosphorylation and afterwards gain-of-function. The clinical phenotype is broad and can include chronic mucocutaneous candidiasis and/or combined immunodeficiency. Objectives: We report a case of 7-year old female patient. She had recurrent pneumonia since infancy and she was hospitalized several times. She had persistant lymphopenia with normal immunoglobulin levels and lymphocyte subsets. Findings: STAT1 mutation was defined by next generation Sequencing PID panel. Despite the antifungal therapy, oxygen requirement continued, methylprednisolone and Janus-associated kinase (JAK) inhibitor (ruxolitinib) was started as therapy. Immunodysregulatory features of disease improved after Janus kinase inhibitor treatment. Conclusion: In patients with STAT1 GOF defect, ruxolitinib treatment may be effective for interstitial lung disease if hematopoietic stem cell transplantation can not be performed.
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Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.22541/au.160406480.03760699/v2
- https://www.authorea.com/doi/pdf/10.22541/au.160406480.03760699
- OA Status
- gold
- References
- 7
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4285010040
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4285010040Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.22541/au.160406480.03760699/v2Digital Object Identifier
- Title
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Recurrent Oral Aphtha, Diarrhea, Pneumonia, And Respiratory Distress Since Infancy: STAT1 GOF defectWork title
- Type
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preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-07-11Full publication date if available
- Authors
-
ali cem kucukdagli, Elif Soyak Aytekin, Çağman Tan, Deniz Çağdaş, Nural Ki̇per, İlhan TezcanList of authors in order
- Landing page
-
https://doi.org/10.22541/au.160406480.03760699/v2Publisher landing page
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https://www.authorea.com/doi/pdf/10.22541/au.160406480.03760699Direct link to full text PDF
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YesWhether a free full text is available
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-
goldOpen access status per OpenAlex
- OA URL
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https://www.authorea.com/doi/pdf/10.22541/au.160406480.03760699Direct OA link when available
- Concepts
-
Ruxolitinib, Medicine, Respiratory distress, Primary immunodeficiency, Hematopoietic stem cell transplantation, Immunology, Pneumonia, Diarrhea, Janus kinase, Internal medicine, Immune system, Disease, Bone marrow, Surgery, Cytokine, MyelofibrosisTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
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7Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| institutions_distinct_count | 6 |
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