Poster Display Diagnostics

WISKOTT-ALDRICH SYNDROME A STUDY OF CASE SERIES

Lecture Time
10:48 - 10:49
Presenter
  • Mohamed Samir LADJ, Algeria
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Board Number
40
Presentation Topic
Diagnostics

Abstract

Background and Aims

The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency condition characterized by microthrombocytopenia, eczema and recurrent infections. It is caused by mutations in the Wiskott - Aldrich syndrome protein (WASP) gene.

Objective: To describe epidemiological, clinical and laboratory data of children with WAS syndrome who were managed in pediatric hospitals Mustapha Pacha in Algeria.during the period 2015- 2019.

Methods

This study included children admitted with the diagnosis of WAS.

Results

10 patients were diagnosed as WAS in 5 years. The ages at diagnosis ranged from 12 weeks to 18 months. The classic triad of thrombocytopenia with small platelets, recurrent infectious, and eczema was seen in only 4 patients; 2 had only infectious manifestations and 4 had only hematologic manifestations before diagnosis.

Immunological studies in all patients have revealed increase of IgA in 9. Mutations in the WASP gene were seen in 5 children,

Four patients had at least one autoimmune or inflammatory complication. Autoimmune hemolytic anemia (2 cases), inflammatory bowel disease (3 cases) and cerebral vasculitis in one case.

Prophylaxis antimicrobial therapy was used in all patients and 8 patients received IVIG replacement therapy. Two children underwent hematopoietic stem cell transplantation (HSCT) and 2 gene therapy. Two patients died from failure to thrive and cerebral candidiasis.

Conclusions

Diagnosis of Wiskott Aldrich syndrome should be considered in any male infant who presents with early onset thrombocytopenia, eczema, and recurrent infections. Treatment is mostly restricted to antibiotics, IVIG therapy. Current advances in HSCT and gene therapy provide treatments with highly favorable results.

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