Recurrent infectious diseases in human CD53 deficiency.
We report a familiar syndrome of recurrent heterogeneous infectious diseases, caused by bacteria, fungi, and viruses, which has as its only detectable defect the lack of CD53 antigen expression in neutrophils. All other assays ruled out known causes of recurrent infectious diseases due to either leukocyte adhesion or phagocytosis defects. CD53 belongs to the transmembrane-4 superfamily of proteins, which are a novel group of membrane proteins implicated in growth regulation and cell motility and possibly cell adhesion. We postulate that defects in these membrane proteins can be clinically manifested as complex recurrent infections.
Mollinedo
F
F
Instituto de Biología y Genética Molecular, Facultad de Medicina, CSIC-Universidad de Valladolid, Spain.
Fontán
G
G
Barasoain
I
I
Lazo
P A
PA
D000293:Adolescent; D000328:Adult; D015703:Antigens, CD / Q000097:blood* / Q000235:genetics; D000945:Antigens, Differentiation, T-Lymphocyte / Q000097:blood* / Q000235:genetics; D003141:Communicable Diseases / Q000209:etiology* / Q000235:genetics / Q000276:immunology*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000209:etiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009504:Neutrophils / Q000276:immunology; D010641:Phenotype; D012008:Recurrence; D060265:Tetraspanin 25
D015703:Antigens, CD; D000945:Antigens, Differentiation, T-Lymphocyte; C554894:CD53 protein, human; D060265:Tetraspanin 25