A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.
Leukocyte adhesion deficiency (LAD) is a genetic disease characterized clinically by severe bacterial infections, and biochemically by a deficiency in the surface expression of the CD11/CD18 leukocyte integrins. We studied a teenage girl with the moderate deficiency phenotype of LAD. B-lymphoblastoid cells from this patient displayed approximately 5% of normal levels of CD11/CD18 on the cell surface. Although a normal sized CD18 mRNA was detectable on Northern blotting, a small CD18 protein was present on Western blotting. Sequencing of the RNA revealed a single base pair substitution resulting in a glycine to serine amino acid substitution at amino acid 284. This amino acid substitution occurs within a highly conserved region of the extracellular domain of CD18 in which several other mutations have been identified in LAD.
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A L
AL
Department of Medicine, University of Washington School of Medicine, Seattle 98195.
Kerkering
M
M
Baker
D
D
Bauer
T R
TR
Embree
L J
LJ
Hickstein
D D
DD
D000293:Adolescent; D000595:Amino Acid Sequence; D000818:Animals; D015703:Antigens, CD / Q000235:genetics*; D001402:B-Lymphocytes / Q000276:immunology / Q000502:physiology; D001483:Base Sequence; D015139:Blotting, Southern; D018845:CD11 Antigens; D018821:CD18 Antigens; D002461:Cell Line, Transformed; D017124:Conserved Sequence; D004247:DNA / Q000302:isolation & purification; D005260:Female; D004854:Herpesvirus 4, Human / Q000235:genetics; D006801:Humans; D016023:Integrins / Q000235:genetics; D008969:Molecular Sequence Data; D009000:Monocytes / Q000502:physiology; D009504:Neutrophils / Q000502:physiology; D017354:Point Mutation; D012313:RNA / Q000235:genetics / Q000302:isolation & purification; D012333:RNA, Messenger / Q000096:biosynthesis; D016028:Receptors, Leukocyte-Adhesion / Q000235:genetics
D015703:Antigens, CD; D018845:CD11 Antigens; D018821:CD18 Antigens; D016023:Integrins; D012333:RNA, Messenger; D016028:Receptors, Leukocyte-Adhesion; D012313:RNA; D004247:DNA