Immuno-deficiency in Schwartz-Jampel syndrome.
Two sisters born in a consanguineous marriage and affected by Schwartz-Jampel syndrome had a complex immunodeficiency, involving not only the humoral but also the cellular immune response.
D000015:Abnormalities, Multiple / Q000276:immunology*; D002648:Child; D003241:Consanguinity; D004406:Dysgammaglobulinemia; D005260:Female; D006130:Growth Disorders / Q000276:immunology*; D006801:Humans; D007153:Immunologic Deficiency Syndromes; D009136:Muscular Dystrophies / Q000276:immunology*; D013577:Syndrome