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The clinical phenotype studies of three siblings from one kindred with a clinical syndrome of immunodeficiency, hepatosplenomegaly, autoimmune hemolytic anemia, thrombocytopenia, muscular hypotonia, and defective enamel dentition are reported. The lack of store-operated [Ca.sup.2+] entry due to defects in ORAI1 or stromal interaction molecule 1 (STIM1) which interferes with immune function might cause immunodeficiency, auto-immune disease, and myopathy.

Several types of diseases are caused by the production of antibodies against the body's own red blood cells, white blood cells or platelets. Immune hemolytic anemia occurs when the antibodies directed against red blood cells cause their destruction. Warm antibodies react at body temperature and cold antibodies react at lower temperatures. Hemolytic disease of the newborn occurs when antibodies produced by the mother cross the placenta and attack fetal red blood cells. This usually occurs when there is an Rh blood group incompatibility. Immune thrombocytopenia is a reduction in platelets caused by the production of antibodies against platelet antigens. Patients with idiopathic thrombocytopenic purpura also have circulating immune complexes. Immune neutropenia is a reduction in neutrophils caused by the production of antibodies against neutrophil antigens.