Update of the Wiskott-Aldrich syndrome. From a new case report.
After presenting the case of a male patient who was diagnosed as suffering from the Wiskott-Aldrich syndrome at the age of 4 months, we review the main clinical (infections, bleeding and eczema), immunological (deficiency of IgM, normal IgG, elevated IgA and IgE, deficiency of total T lymphocytes, normal T4 levels, decreased levels of T8, diminished response to phytohemagglutinin and partial depletion of the lymphocyte population in biopsies of lymph nodes and spleen) and haematological (thrombocytopenia, dysmegakaryocytosis, decreased half-life and decreased granulation in the protoplasm of megakaryocytes) manifestations of this syndrome. In general, our aim is to carry out an up-to-date review of the syndrome, and to include comments on the diagnostic and therapeutic aspects.
Martín Mateos
M A
MA
Department of Pediatrics, Hospital Clinico, University of Barcelona, Spain.
Muñoz-López
F
F
Cruz
M
M
D000917:Antibody Formation; D001424:Bacterial Infections / Q000209:etiology; D001853:Bone Marrow / Q000473:pathology; D002543:Cerebral Hemorrhage / Q000209:etiology; D003131:Combined Modality Therapy; D004198:Disease Susceptibility; D006801:Humans; D007111:Immunity, Cellular; D007231:Infant, Newborn; D008297:Male; D014923:Wiskott-Aldrich Syndrome / Q000097:blood / Q000276:immunology* / Q000628:therapy