title: [Severe mixed immunodeficiency. Report of a case].
abstract: The case of a 3 month old child with severe combined sex linked immunodeficiency is presented. The diagnosis was well doccumented, during his life. The child presented as a case of mucocutaneous moniliasis resistant to treatment. There was a history of similar cases in the family; diagnosis was made at post-mortem in one cousin and death occurred at early age in all kins so affected. Blood marrow transplant was not feasible in our case because histocompatibility was lacking in the kins studied. Three units of transfer factor were given as well as hyperimmune plasma but the child died in respiratory failure. Autopsy demonstrated pulmonary infection by Pneumocystic carinii and generalized citomegalic inclussion virus infection; almost complete absence of immune tissue was also demonstrated.
mesh_terms: D001344:Autopsy; D002179:Candidiasis, Cutaneous / Q000473:pathology; D002986:Clinical Trials as Topic; D003586:Cytomegalovirus Infections / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000473:pathology*; D007223:Infant; D008297:Male; D010375:Pedigree; D011010:Pneumocystis / Q000302:isolation & purification; D011020:Pneumonia, Pneumocystis / Q000473:pathology
vernacular_title: Inmunodeficiencia mixta grave. Presentacióm de un caso