title: Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).
abstract: X-linked severe combined immunodeficiency (X-SCID) is a rare fatal disease that is caused by mutations in the gene encoding the gammac chain. In this study, 27 unrelated Japanese patients with X-SCID were examined in terms of their genetic mutations and surface expression of the gammac chain. Among 25 patients examined, excluding two patients with large deletions, 23 different mutations were identified in the IL2RG gene, including 10 novel mutations. One patient bearing an extracellular mutation and all three of the patients bearing intracellular mutations after exon 7 expressed the gammac chain on the cell surface. Overall, 84% of patients lacked surface expression of the gammac chain leading to a diagnosis of X-SCID.
authors: Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan. kumakis@idac.tohoku.ac.jp
authors: S
authors: S
authors: Kumaki
authors: N
authors: N
authors: Ishii
authors: M
authors: M
authors: Minegishi
authors: Y
authors: Y
authors: Ohashi
authors: I
authors: I
authors: Hakozaki
authors: S
authors: S
authors: Nonoyama
authors: K
authors: K
authors: Imai
authors: T
authors: T
authors: Morio
authors: I
authors: I
authors: Tsuge
authors: Y
authors: Y
authors: Sakiyama
authors: A
authors: A
authors: Miyanoshita
authors: J
authors: J
authors: Miura
authors: M
authors: M
authors: Mayumi
authors: T
authors: T
authors: Heike
authors: K
authors: K
authors: Katamura
authors: H
authors: H
authors: Takada
authors: I
authors: I
authors: Izumi
authors: J
authors: J
authors: Kamizono
authors: S
authors: S
authors: Hibi
authors: H
authors: H
authors: Sasaki
authors: M
authors: M
authors: Kimura
authors: A
authors: A
authors: Kikuta
authors: Y
authors: Y
authors: Date
authors: M
authors: M
authors: Sako
authors: H
authors: H
authors: Tanaka
authors: K
authors: K
authors: Sano
authors: K
authors: K
authors: Sugamura
authors: S
authors: S
authors: Tsuchiya
mesh_terms: D000911:Antibodies, Monoclonal; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D009154:Mutation; D015375:Receptors, Interleukin-2 / Q000737:chemistry / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D000911:Antibodies, Monoclonal; D015375:Receptors, Interleukin-2