Document 0282
 DOCN  M9610282
 TI    Increased frequency of homozygosity of abnormal mannan-binding-protein
       alleles in patients with suspected immunodeficiency.
 DT    9601
 AU    Garred P; Madsen HO; Hofmann B; Svejgaard A; Department of Clinical
       Immunology, National University Hospital; (Rigshospitalet), Copenhagen,
       Denmark.
 SO    Lancet. 1995 Oct 7;346(8980):941-3. Unique Identifier : AIDSLINE
       MED/96006000
 AB    A low plasma concentration of mannan-binding protein (MBP) impairs
       opsonisation and phagocytosis. Three different mutations in the MBP gene
       have a dominant effect on MBP concentration. We investigated the
       frequency of the abnormal MBP alleles in 228 unrelated patients
       suspected of various non-HIV-related immunodeficiencies. The frequency
       of heterozygotes for the abnormal alleles was not different from that in
       the background population (36.0% and 37.4%, respectively). By contrast,
       the frequency of homozygotes for the abnormal alleles was significantly
       increased (8.3% and 0.8%, respectively; p = 0.0017). This finding
       implies that homozygotes for abnormal MBP alleles are predisposed to
       recurrent infections.
 DE    Alleles  Carrier Proteins/BLOOD/*GENETICS  Child, Preschool  Female
       Gene Frequency  Homozygote  Human  Immunologic Deficiency
       Syndromes/BLOOD/*GENETICS  Infant  Male  Support, Non-U.S. Gov't
       JOURNAL ARTICLE

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