title: Congenital tuftsin deficiency.
abstract: The serum tuftsin activity in four different pediatric groups has been studied: (a) 20 premature infants, (b) 20 full-term infants, (c) 20 normal children (controls), and (d) 5 patients with recurrent and severe infections of the respiratory system, skin, and lymph nodes. The normal children as well as the premature and full-term infants had normal tuftsin activity. Tuftsin activity in the serum of the 5 patients in group (d) was absent. Cellular and humoral immunity in these patients was normal. All patients have been shown to have a mutant peptide that is strongly inhibitory to the normal tetrapeptide tuftsin. The clinical response of these patients to gamma-globulin was excellent.
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D007239:Infections / Q000209:etiology; D008198:Lymph Nodes; D008297:Male; D012141:Respiratory Tract Infections / Q000209:etiology; D012874:Skin Diseases, Infectious; D014405:Tuftsin / Q000037:antagonists & inhibitors / Q000097:blood / Q000172:deficiency*; D005719:gamma-Globulins / Q000627:therapeutic use
chemical_list: D005719:gamma-Globulins; D014405:Tuftsin