Wiskott-Aldrich syndrome: clinical, immunological, and genetic characterization of the first Moroccan cohort.
All patients in Moroccan Wiskott-Aldrich syndrome cohort had thrombocytopenia.
Wiskott-Aldrich syndrome: clinical, immunological, and genetic characterization of the first Moroccan cohort.
Wiskott-Aldrich syndrome (Wiskott-Aldrich syndrome) is a rare X-linked inborn error of immunity characterized by thrombocytopenia, eczema, and recurrent infections, with additional risks of autoimmunity and malignancy.
We conducted a mixed retrospective-prospective observational cohort study of male patients with molecularly confirmed Wiskott-Aldrich syndrome managed at a Moroccan tertiary referral center between January 2017 and September 2024.
every patient in the cohort had thrombocytopenia
Autoimmune complications occurred in 2/10 patients (20%), manifesting as systemic lupus erythematosus with lupus-nephritis-compatible disease in one case and autoimmune hemolytic anemia in the other.
Mean platelet volume (mean platelet volume) was available in 9/10 patients and was reduced in 2/9 (22.2%).
Gly322* variant recurred in three related patients, including twin brothers, while c.735-2A > T was found in two unrelated individuals, highlighting both familial recurrence and allelic heterogeneity.
This first genetically confirmed Moroccan case series expands the clinical and molecular spectrum of Wiskott-Aldrich syndrome in North Africa.
Our findings highlight the marked clinical and genetic heterogeneity of Wiskott-Aldrich syndrome and underscore the importance of early molecular diagnosis to guide appropriate management, genetic counseling, and timely referral for curative therapy in resource-limited settings.