Guillén-Rocha, NelvaLópez-Rocha, EuniceDanielian, SilviaSegura-Méndez, NoraLópez-González, LucinaLugo-Reyes, Saúl Oswaldo2026-03-242026-03-2420140002-5151PMID:25177856https://pubmed.ncbi.nlm.nih.gov/25177856/https://andeanlibrary.org/handle/123456789/101272Vol. 61, No. 3, pp. 219-23Wiskott-Aldrich syndrome was first reported clinically in 1937, and in 1954 the classic triad was identified: eccema, recurrent infections and thrombocytopenia with an X-linked transmission. Its incidence is estimated at 1 to 10 in one million live births per year. Wiskott Aldrich syndrome is caused by mutations in a gene in the short arm of chromosome X that encodes the Wiskott-Aldrich syndrome protein (WASp), which identification and sequencing was first performed in 1994, and since then about 300 mutations have been reported. This paper describes the case of a boy with Wiskott-Aldrich syndrome, with clinical and genetic diagnosis, with a considerable diagnostic delay attributable to an atypical presentation misdiagnosed as immune thrombocytopenia.spaPersistent thrombocytopeniaPrimary immunodeficiencyWiskott-Aldrich syndromeArtículo Científico Publicado