A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain‐of‐function mutation: A case report and review of the literature

STAT 1 GOF mutations are a rare cause of childhood primary immunodeficiency. Recurrent mucocutaneous candidiasis, chest infections, and autoimmune disease are all classic phenotype presentations. Rapid identification and diagnosis of this debilitating disease using whole exon sequencing may improve...

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Autores principales: Alidrisi, Dhuha, Maksood, Lama, Alqahtani, Wed, Minshawi, Faisal, Aburziza, Abdullah, Janem, Waleed F., Almatrafi, Mohammed A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9040560/
https://www.ncbi.nlm.nih.gov/pubmed/35498362
http://dx.doi.org/10.1002/ccr3.5791
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author Alidrisi, Dhuha
Maksood, Lama
Alqahtani, Wed
Minshawi, Faisal
Aburziza, Abdullah
Janem, Waleed F.
Almatrafi, Mohammed A.
author_facet Alidrisi, Dhuha
Maksood, Lama
Alqahtani, Wed
Minshawi, Faisal
Aburziza, Abdullah
Janem, Waleed F.
Almatrafi, Mohammed A.
author_sort Alidrisi, Dhuha
collection PubMed
description STAT 1 GOF mutations are a rare cause of childhood primary immunodeficiency. Recurrent mucocutaneous candidiasis, chest infections, and autoimmune disease are all classic phenotype presentations. Rapid identification and diagnosis of this debilitating disease using whole exon sequencing may improve outcomes and minimize long‐term sequelae.
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spelling pubmed-90405602022-04-28 A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain‐of‐function mutation: A case report and review of the literature Alidrisi, Dhuha Maksood, Lama Alqahtani, Wed Minshawi, Faisal Aburziza, Abdullah Janem, Waleed F. Almatrafi, Mohammed A. Clin Case Rep Case Reports STAT 1 GOF mutations are a rare cause of childhood primary immunodeficiency. Recurrent mucocutaneous candidiasis, chest infections, and autoimmune disease are all classic phenotype presentations. Rapid identification and diagnosis of this debilitating disease using whole exon sequencing may improve outcomes and minimize long‐term sequelae. John Wiley and Sons Inc. 2022-04-26 /pmc/articles/PMC9040560/ /pubmed/35498362 http://dx.doi.org/10.1002/ccr3.5791 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Alidrisi, Dhuha
Maksood, Lama
Alqahtani, Wed
Minshawi, Faisal
Aburziza, Abdullah
Janem, Waleed F.
Almatrafi, Mohammed A.
A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain‐of‐function mutation: A case report and review of the literature
title A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain‐of‐function mutation: A case report and review of the literature
title_full A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain‐of‐function mutation: A case report and review of the literature
title_fullStr A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain‐of‐function mutation: A case report and review of the literature
title_full_unstemmed A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain‐of‐function mutation: A case report and review of the literature
title_short A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain‐of‐function mutation: A case report and review of the literature
title_sort child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to stat1 gain‐of‐function mutation: a case report and review of the literature
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9040560/
https://www.ncbi.nlm.nih.gov/pubmed/35498362
http://dx.doi.org/10.1002/ccr3.5791
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