Affected patients have mutations in the gene encoding Wiskott-Aldrich syndrome protein WASP , a key regulator of signaling and reorganization of the cytoskeleton in hematopoietic cells. Mutations in WASP gene lead to a wide clinical spectrum ranging from thrombocytopenia, immunodeficiency, eczema and high susceptibility to tumor development and manifestations such as skin infections, suppurative otitis and pneumonia. Clinical symptoms start around the age of 6 months. The laboratory tests show low platelet count and small size, but definitive diagnosis can only be confirmed by the demonstration of mutations in WASP gene.
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ABSTRACT The authors describe a case of a classical Wiskott-Aldrich syndrome with microtrombocitopenia, eczema and recurrent respiratory, gastrointestinal and skin infections due to severe combined immunodeficiency. The patient developed Coombs-positive hemolytic anemia and autoimmune neutropenia and no control of infectious episodes despite of conservative treatment with intravenous gamma globulin, corticosteroid therapy and prophylaxis with antibiotics and acyclovir.
The unrelated cord blood stem cells transplant was held with completed cure at seven years old and a promissory segment of seven years post-transplant.
Keywords: combined immunodeficiency; microplatelet thrombocytopenia; Wiskott-Aldrich syndrome. Em , Dr. Evoluiu satisfatoriamente. Figura 1. Figura 2. Figura 3. Dosagens de imunoglobulinas G. Dosagens de imunoglobulinas M. Dosagens de imunoglobulinas A.
Aluce Loureiro Ouricuri e Dr. Daniel Tabak e Dr. Wiskott A. Monatsschr Kinderheilkd. Pedigree demonstration a sexlinked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics, ; Immunologic Disorders in Infants and Children. Fifth edition. Philadelphia: Saunders; The Wiskott-Aldrich syndrome: the actin cytoskeleton and immune cell function. Dis Markers. Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome.
Wiskott-Aldrich Syndrome: Diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant. Trasher AJ. Approach to the child with recurrent infections- presentation and investigaton of primary immunodeficiency.
Esser M. Curr Allergy Clin Immunol. Rev Chil Infect. Alergista e imunologista. Hospital Federal dos Servidores do Estado. Rio de Janeiro, RJ.
Síndrome de Wiskott-Aldrich
Syndrome de Wiskott-Aldrich
Síndrome de Wiskott-Aldrich: relato de caso