1. Male with a history of 3 maternal uncles transplanted by SWA, an uncle died from LMC. His condition started at 2 months of age with thrombocytopenic purpura in treatment with prednisone and immunoglubilin without recovery of platelet levels. He presented respiratory tract infection, diarrhea, digestive bleeding and oral candidiasis. HB reported thrombocytopenia; blood smears with small platelets; immunoglobulins with elevated IgE and IgA; lymphocyte subpopulation, IgG, IgM in normal parameters. Decreased WASp expression as well as proliferation of positive lymphocytes.
2. Male with history of 7 uncle maternal grandparents died at early age. His condition begins at 8 days of life with digestive bleeding and fever, antibiotics were administered. HB reported anemia and moderate thrombocytopenia; negative urine culture. Allergy to cow's milk protein was suspected. At 2 months of age after aplication of hepatitis B, rotavirus and pneumococcus vaccines, He started with intermittent fever for 10 days. BH report anemia and severe thrombocytopenia. Transfusions and immunoglobulin were administered. BMA negatively to malignancy. WASP
Presentation of two patients with SWA with diferent clinical spectrum.
case 1. Mild Spectrum of SWA according to the clinical classification. He presents persistent thrombocytopenia, eczema and infectious processes associated with immunodeficiency, however with a positive WASp expression.
case 2. Severe Spectrum of SWA according to the clinical classification. He presents persistent thrombocytopenia and neutropenia with a negative WASp expression.
Clinical spectrum of SWA is variable, it presents in 3 phenotypes ranging from severe immunodeficiency to neutropenia or thrombocytopenia linked to X symptoms of WASp expression in the hematopoietic line.