title: Hyper-IgM immunodeficiency with disseminated cryptococcosis.
abstract: We describe two siblings with X-linked hyper-IgM immunodeficiency. One patient developed disseminated cryptococcosis. Co-culture of this patient's T cells with normal B cells suppressed IgG and IgA production. The CD40 ligand gene of one patient was examined and contained a nonsense mutation at nucleotide 475. CD40 ligand is a membrane protein which is expressed on activated T cells and induces B-cell proliferation. These results suggest that there is a defect in T- and B-cell interactions in this immunodeficiency syndrome. It is also possible that patients with this syndrome are predisposed to cryptococcal infections.
authors.affiliation: Department of Pediatrics, School of Medicine, Keio University.
authors.forename: M
authors.initials: M
authors.lastname: Iseki
authors.forename: M
authors.initials: M
authors.lastname: Anzo
authors.forename: N
authors.initials: N
authors.lastname: Yamashita
authors.forename: N
authors.initials: N
authors.lastname: Matsuo
mesh_terms: D015703:Antigens, CD / Q000235:genetics; D023201:CD40 Ligand; D015984:Causality; D002675:Child, Preschool; D003453:Cryptococcosis / Q000453:epidemiology / Q000209:etiology*; D017809:Fatal Outcome; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000097:blood / Q000150:complications* / Q000235:genetics / Q000276:immunology; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007075:Immunoglobulin M / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000097:blood / Q000150:complications* / Q000235:genetics / Q000276:immunology; D007223:Infant; D008024:Ligands; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D012008:Recurrence; D014960:X Chromosome
chemical_list: D015703:Antigens, CD; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D008024:Ligands; D008562:Membrane Glycoproteins; D023201:CD40 Ligand