Clinical and laboratory features of patients with an inherited deficiency of neutrophil membrane complement receptor type 3 (CR3) and the related membrane antigens LFA-1 and p150,95.
Over the last 3 years a group of more than 20 patients has been described worldwide who have a similar history of recurrent bacterial infections and an inherited deficiency of three related leukocyte membrane surface antigens known as CR3, LFA-1 (lymphocyte function-associated antigen type 1), and p150,95 (function unknown). These antigens share a common beta-chain structure linked noncovalently to one of three distinct alpha-chain types. It is believed that the patients with this disease have a reduced or absent ability to synthesize the common beta subunit of the antigen family, resulting in absent or reduced expression of all three antigen family members on different leukocyte types. Neutrophils have a reduced phagocytic and respiratory burst response to bacteria and yeast as well as a reduced ability to adhere to various substrates and migrate into sites of infection. In vitro functional studies of normal neutrophils, monocytes, and lymphocytes treated with monoclonal antibodies to the individual alpha and beta chains of these antigens suggest that most of the clinical features of the patients may be due to the neutrophil and monocyte deficiency of CR3. Although natural killer-cell activity is diminished or absent, no immune deficiency of the patients' lymphocytes attributable to the absence of LFA-1 has been detected. Diagnosis of this disease has been facilitated by the commercial availability of monoclonal antibodies specific for the alpha chains of CR3 and p150,95.
D000293:Adolescent; D000911:Antibodies, Monoclonal; D000954:Antigens, Surface / Q000235:genetics*; D001424:Bacterial Infections / Q000276:immunology; D002648:Child; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics / Q000276:immunology*; D007231:Infant, Newborn; D016169:Lymphocyte Function-Associated Antigen-1; D016177:Macrophage-1 Antigen; D008297:Male; D009000:Monocytes / Q000276:immunology; D009504:Neutrophils / Q000276:immunology*; D011951:Receptors, Complement / Q000235:genetics*
D000911:Antibodies, Monoclonal; D000954:Antigens, Surface; D016169:Lymphocyte Function-Associated Antigen-1; D016177:Macrophage-1 Antigen; D011951:Receptors, Complement