Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID)

Human Genetics

Volumn 107, Issue 4, 2000, Pages 406-408

  Kumaki, Satoru ^a   Ishii, Naoto ^b   Minegishi, Masayoshi ^a   Ohashi, Yoshiyuki ^a   Hakozaki, Ikuko ^a   Nonoyama, Shigeaki ^c   Imai, Kohsuke ^c   Morio, Tomohiro ^c   Tsuge, Ikuya ^d   Sakiyama, Yukio ^e   Miyanoshita, Akihiko ^f   Miura, Jun Ichi ^g   Mayumi, Mitsuhumi ^h   Heike, Toshio ⁱ   Katamura, Kenji ^j   Takada, Hidetoshi ^k   Izumi, Isho ^l   Kamizono, Junji ^m   Hibi, Shigeyoshi ⁿ   Sasaki, Hiroshi ^o   Kimura, Mitsuaki ^p   Kikuta, Atsushi ^q   Date, Yukiji ^r   Sako, Masahiro ^s   Tanaka, Haruki ^t   Sano, Kimihiko ^u   Sugamura, Kazuo ^b   Tsuchiya, Shigeru ^a   more..

^a TOHOKU UNIVERSITY   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^d NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e HOKKAIDO UNIVERSITY   (Japan)

^f Department of Pediatrics   (Japan)

^g ASAHIKAWA RED CROSS HOSPITAL   (Japan)

^h University of Fukui   (Japan)

ⁱ UNIVERSITY OF TOKYO   (Japan)

^j KYOTO UNIVERSITY   (Japan)

^k KYUSHU UNIVERSITY   (Japan)

^l Ibaraki Children's Hospital   (Japan)

^m UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

ⁿ KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^o KURASHIKI CENTRAL HOSPITAL   (Japan)

^p SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^q FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^r KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^s OSAKA CITY GENERAL HOSPITAL   (Japan)

^t OSAKA RED CROSS HOSPITAL   (Japan)

^u KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 2; DIAGNOSTIC AGENT; INTERLEUKIN 2 RECEPTOR; MONOCLONAL ANTIBODY;

ALPHA CHAIN; ARTICLE; CELL SURFACE; CLINICAL ARTICLE; COMBINED IMMUNODEFICIENCY; EXON; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; JAPAN; LYMPHOCYTE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; X CHROMOSOME LINKED DISORDER; CHEMISTRY; GENETIC LINKAGE; GENETICS; IMMUNOLOGY; INFANT; MUTATION; NUCLEOTIDE SEQUENCE; X CHROMOSOME;

ANTIBODIES, MONOCLONAL; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; JAPAN; LINKAGE (GENETICS); MALE; MUTATION; RECEPTORS, INTERLEUKIN-2; SEVERE COMBINED IMMUNODEFICIENCY; X CHROMOSOME;

EID: 0033623631     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000381     Document Type: Article

References (6)

1. Impairment of ligand binding and growth signaling of mutant IL-2 receptor γ-chains in patients with X-linked severe combined immunodeficiency
2. Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients
3. Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: Interleukin-15 binds to the B cells but is not internalized efficiently
4. Functional role of IL-4 and IL-7 in the development of X-linked severe combined immunodeficiency
5. Three novel mutations in the interleukin-2 receptor γ chain gene in four Japanese patients with X-linked severe combined immunodeficiency
6. The interleukin-2 receptor γ chain: Its role in the multiple cytokine receptor complexes and T cell development in XSCID