title: A familial case of hyper-IgM immunodeficiency.
abstract: A 22-year-old male was diagnosed as having immunodeficiency with hyper-IgM based upon recurrent pneumonia, marked elevation of serum IgM and markedly decreased level of IgG. IgG-or IgA-bearing B cells were not detected in peripheral blood while a number and a proportion of peripheral blood T lymphocytes were normal. Peripheral blood lymphocytes from this patient proliferated normally in response to T-independent and T-dependent B cell mitogens, and to T cell mitogens. Furthermore, the same type of dysgammaglobulinemia with increased IgM was found in the patient's father and brother. From these observations, it is suggested that it is a rare case of autosomal dominant or polygenal inheritance of hyper-IgM immunodeficiency.
authors.affiliation: First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Iwakiri
authors.forename: T
authors.initials: T
authors.lastname: Nakano
authors.forename: M
authors.initials: M
authors.lastname: Harada
authors.forename: S
authors.initials: S
authors.lastname: Nagafuchi
authors.forename: T
authors.initials: T
authors.lastname: Teshima
authors.forename: N
authors.initials: N
authors.lastname: Ono
authors.forename: Y
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Niho
mesh_terms: D000328:Adult; D001706:Biopsy; D016516:CD4-CD8 Ratio; D002908:Chronic Disease; D004406:Dysgammaglobulinemia / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D006801:Humans; D007075:Immunoglobulin M / Q000172:deficiency*; D008198:Lymph Nodes / Q000473:pathology; D008297:Male; D010375:Pedigree; D011014:Pneumonia / Q000235:genetics / Q000276:immunology / Q000473:pathology; D012008:Recurrence
chemical_list: D007075:Immunoglobulin M