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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Research and Publications Office of Jimma University
2020
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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. |
format | Online Article Text |
id | pubmed-8047228 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Research and Publications Office of Jimma University |
record_format | MEDLINE/PubMed |
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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