{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T04:05:13Z","timestamp":1754021113818,"version":"3.40.4"},"reference-count":10,"publisher":"Colegio Mexicano de Inmunologia Clinica y Alergia, A. C.","issue":"4","license":[{"start":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T00:00:00Z","timestamp":1681862400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Alerg Mex"],"abstract":"<jats:p>Case Report\nBackground:Wiskott-Aldrich syndrome (WAS) is an inborn error of immunity characterized by thrombocytopenia, small platelets, severe eczema, recurrent infections, and susceptibility to autoimmune diseases and malignancies. Diagnosis can be challenging, especially when platelets are of normal size.\nCase Report:A 3-year-old male patient was referred to the Hospital Universit\u00e1rio da Santa Casa de S\u00e3o Paulo, Brazil, for acute otitis media, which progressed to sepsis due to Haemophilus influenzae. At one month of age, he was diagnosed with autoimmune thrombocytopenia, and at two years, he underwent splenectomy. During follow-up, he required three hospitalizations: one for Streptococcus pneumoniae infection leading to sepsis, another for eczema exacerbation with Staphylococcus epidermidis isolation, and the last for fever of unknown origin. Laboratory tests after splenectomy showed platelet counts within the reference range, with normal platelet size.\nAt four years old, further immunological tests revealed an elevated IgE level (3128 kU\/L), normal IgA, IgG, and anti-polysaccharide antibodies, decreased IgM, CD19, na\u00efve TCD4, and na\u00efve B cells, increased TCD8, and normal NK cells. These findings led to the suspicion of WAS. Genetic testing confirmed the c.295C&gt;T mutation in the WAS gene.\nConclusions:This case describes a novel mutation in the WAS gene, presenting with a mild Wiskott-Aldrich syndrome phenotype, characterized by thrombocytopenia, normal-sized platelets, and X-linked inheritance. Early diagnosis and appropriate treatment are crucial to improving the quality of life for these patients.<\/jats:p>","DOI":"10.29262\/ram.v69i4.1178","type":"journal-article","created":{"date-parts":[[2023,4,21]],"date-time":"2023-04-21T07:01:18Z","timestamp":1682060478000},"page":"228-231","source":"Crossref","is-referenced-by-count":2,"title":["S\u00edndrome de Wiskott-Aldrich con plaquetas de tama\u00f1o normal y mutaci\u00f3n c.295C&gt;T en el gen WAS. Informe de caso"],"prefix":"10.29262","volume":"69","author":[{"given":"Maria Luiza","family":"Cunha-Carneiro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Millena","family":"Xavier-Andrade","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiz Fernando","family":"Bacarini-Leite","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tain\u00e1","family":"Mosca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilma","family":"Carvalho Neves Forte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"11808","published-online":{"date-parts":[[2023,4,19]]},"reference":[{"key":"44661","unstructured":"Forte WCN. Imunodefici\u00eancias Prim\u00e1rias. In: Forte WCN. Imunologia do b\u00e1sico ao aplicado. 3\u00aa. Ed. S\u00e3o Paulo: Editora Atheneu. 2015;221-47."},{"key":"44662","doi-asserted-by":"crossref","unstructured":"Bousfha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al Herz W, et al. The 2022 Update of IUIS phenotypical Classifcation for Human Inborn Errors of Immunity. J Clin Immunol. 2022;10.1007\/s10875-022-01352-z.","DOI":"10.1007\/s10875-022-01352-z"},{"key":"44663","doi-asserted-by":"crossref","unstructured":"Massaad MJ, Ramesh N, Geha RS. Wiskott-Aldrich Syndrome: a comprehensive review. Ann N Y Acad Sci. 2013;1285:26-43.","DOI":"10.1111\/nyas.12049"},{"key":"44664","doi-asserted-by":"crossref","unstructured":"Buchbinder D, Nugent DJ, Fillipovich AH. Wiskott-Aldrich Syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet. 2014;7:55-66.","DOI":"10.2147\/TACG.S58444"},{"key":"44665","doi-asserted-by":"crossref","unstructured":"Silveira DMG, Maia AS, Forestiero C, Silva segundo GR, Chong-Silva DC, Chong Neto HJ, et al. S\u00edndrome de Wiskott-Aldrich com plaquetas de volume normal. Arq Asma Alerg Imunol. 2017;1(4):422-6.","DOI":"10.5935\/2526-5393.20170062"},{"key":"44666","doi-asserted-by":"crossref","unstructured":"Candotti F. Clinical manifestations and pathophysiological mechanisms of the Wiskott-Aldrich Syndrome. J Clin Immunol. 2018;38(1):13-27.","DOI":"10.1007\/s10875-017-0453-z"},{"key":"44667","doi-asserted-by":"crossref","unstructured":"Garc\u00eda-Dom\u00ednguez M, De la O-Espinoza EA, Cruz-Mu\u00f1oz M. Aortic aneurysm in a patient with Wiskott-Aldrich Syndrome. Rev Alerg Mex. 2020;67(1):87-93.","DOI":"10.29262\/ram.v67i1.696"},{"key":"44668","doi-asserted-by":"crossref","unstructured":"Mantadakis E, Sawalle-Belohradsky J, Tzanoudaki M, Kanariou M, Chatzimichael A, Albert MH. X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations. Pediatr Blood Cancer. 2014;61:2305-6.","DOI":"10.1002\/pbc.25196"},{"key":"44669","doi-asserted-by":"crossref","unstructured":"Baharin MF, Dhaliwal JS, Sarachandran SVV, Idris SZ, Yeoh SL. A rare case of Wiskott-Aldrich Syndrome with normal platelet size: a case report. J Med Case Rep. 2016;10(188):1-4.","DOI":"10.1186\/s13256-016-0944-1"},{"key":"44670","doi-asserted-by":"crossref","unstructured":"Patel PD, Samanich JM, Mitchell WB, Manwani D. A unique presentation of Wiskott-Aldrich Syndrome in relation to platelet size. 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