Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, type McKusick) with combined immune deficiency: variable expression and development of immunologic functions in sibs.
D002356:Cartilage / Q000002:abnormalities*; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D006968:Hypersensitivity, Delayed; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology; D007198:Indians, North American; D007223:Infant; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000276:immunology; D008297:Male; D010641:Phenotype; D012397:Rosette Formation; D013577:Syndrome