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A Clinical Diagnosis of Wiskott Aldrich Syndrome in an Ethiopian Boy with Recurrent Sinopulmonary Infections: A Case Report

BACKGROUND: Wiskott Aldrich syndrome is a primary immunodeficiency notable for eczema, recurrent infections, bleeding diathesis and microcytic thrombocytopenia. CASE: A 4½ year old boy presented with recurrent sinopulmonary infections, repeated treatment for severe eczema since infancy, thrombocytop...

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Detalles Bibliográficos
Autores principales: Deribssa, Solomie Jebessa, Alemayehu, Tinsae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research and Publications Office of Jimma University 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8047228/
https://www.ncbi.nlm.nih.gov/pubmed/33883853
http://dx.doi.org/10.4314/ejhs.v30i6.26
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author Deribssa, Solomie Jebessa
Alemayehu, Tinsae
author_facet Deribssa, Solomie Jebessa
Alemayehu, Tinsae
author_sort Deribssa, Solomie Jebessa
collection PubMed
description BACKGROUND: Wiskott Aldrich syndrome is a primary immunodeficiency notable for eczema, recurrent infections, bleeding diathesis and microcytic thrombocytopenia. CASE: A 4½ year old boy presented with recurrent sinopulmonary infections, repeated treatment for severe eczema since infancy, thrombocytopenia with low platelet volume. His brother and uncles died during childhood due to repeated illnesses. We outline ways to diagnose and manage children in resource limited settings. CONCLUSION: Wiskott Aldrich syndrome can be diagnosed by its clinical triad of syndromes. Mutation of the WASP gene confirms diagnosis. Increasing reports of primary immune deficiencies in Ethiopia call for improved education and care for clinical immunology.
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spelling pubmed-80472282021-04-20 A Clinical Diagnosis of Wiskott Aldrich Syndrome in an Ethiopian Boy with Recurrent Sinopulmonary Infections: A Case Report Deribssa, Solomie Jebessa Alemayehu, Tinsae Ethiop J Health Sci Case Report BACKGROUND: Wiskott Aldrich syndrome is a primary immunodeficiency notable for eczema, recurrent infections, bleeding diathesis and microcytic thrombocytopenia. CASE: A 4½ year old boy presented with recurrent sinopulmonary infections, repeated treatment for severe eczema since infancy, thrombocytopenia with low platelet volume. His brother and uncles died during childhood due to repeated illnesses. We outline ways to diagnose and manage children in resource limited settings. CONCLUSION: Wiskott Aldrich syndrome can be diagnosed by its clinical triad of syndromes. Mutation of the WASP gene confirms diagnosis. Increasing reports of primary immune deficiencies in Ethiopia call for improved education and care for clinical immunology. Research and Publications Office of Jimma University 2020-11 /pmc/articles/PMC8047228/ /pubmed/33883853 http://dx.doi.org/10.4314/ejhs.v30i6.26 Text en © 2020 Solomie Jebessa Deribssa, et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Case Report
Deribssa, Solomie Jebessa
Alemayehu, Tinsae
A Clinical Diagnosis of Wiskott Aldrich Syndrome in an Ethiopian Boy with Recurrent Sinopulmonary Infections: A Case Report
title A Clinical Diagnosis of Wiskott Aldrich Syndrome in an Ethiopian Boy with Recurrent Sinopulmonary Infections: A Case Report
title_full A Clinical Diagnosis of Wiskott Aldrich Syndrome in an Ethiopian Boy with Recurrent Sinopulmonary Infections: A Case Report
title_fullStr A Clinical Diagnosis of Wiskott Aldrich Syndrome in an Ethiopian Boy with Recurrent Sinopulmonary Infections: A Case Report
title_full_unstemmed A Clinical Diagnosis of Wiskott Aldrich Syndrome in an Ethiopian Boy with Recurrent Sinopulmonary Infections: A Case Report
title_short A Clinical Diagnosis of Wiskott Aldrich Syndrome in an Ethiopian Boy with Recurrent Sinopulmonary Infections: A Case Report
title_sort clinical diagnosis of wiskott aldrich syndrome in an ethiopian boy with recurrent sinopulmonary infections: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8047228/
https://www.ncbi.nlm.nih.gov/pubmed/33883853
http://dx.doi.org/10.4314/ejhs.v30i6.26
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