Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein

Parkman et al. (1984) reported studies of 2 patients with primary T-lymphocyte immune abnormalities due to deficiency of a lymphocyte membrane glycoprotein with molecular weight 115,000 Daltons (Remold-O'Donnell et al., 1984). One patient was from a kindred with 7 affected males in 4 sibships connected through females. The affected persons were all dead by the time of the report, having suffered from severe viral, protozoan, and bacterial infections. The second patient, a male, was an isolated case. The patients showed some clinical and biochemical similarities with the Wiskott-Aldrich syndrome (301000) but important differences as well. In gpL-115 deficiency, no eczema or thrombocytopenia was observed and no abnormality of platelet surface glycoproteins or their in vitro aggregation. The autoradiographs of the lymphocytes in Wiskott-Aldrich syndrome were similar to those in this disorder, but in WAS glycoprotein-115 is abnormal in both platelets and lymphocytes (Remold-O'Donnell et al., 1984). These 2 patients and some WAS patients have reduced lymphocyte volume, seemingly related to gpL-115 deficiency. Splenectomy in WAS resulted in return of lymphocyte size to normal. Platelet size behaves similarly. Patient 1 of Parkman et al. (1984) showed circulating immature T-cells of a type usually found only in the thymus in adulthood. They suggested that immature T-cells may be a compensatory mechanism for increased in vivo destruction of the abnormal T-cells in a manner analogous to reticulocytes and nucleated red cells in the circulation in hereditary spherocytosis and other intrinsic red cell membrane abnormalities associated with increased in vivo destruction. Bone marrow transplantation was performed in the second case. This may be an addition to the list of X-linked immunodeficiencies (see 300400, 301000, 307200, 308230, and 308240).