Gene: [0Xq131/IL2RG] interleukin 2 receptor, gamma (antigen CD132); severe combined immunodeficiency disease, X-linked (SCIDX1, SCIDX2); immunodeficiency 4 (thymic epithelial hypoplasia; MIM:300400); agammaglobulinemia, swiss type (MIM:300400); immunodeficiency 6 (combined immunodeficiency, X-linked; MIM:312863); [SCIDX1 ]
REL | GEM:10p1/IL2RA; GEM:22q13/IL2RB. |
REF | MUT "Clark PA &: Hum
Genet, 96, 427-432, 1995 ASS,MUT "Jones AM &: Hum Genet, 99, 677-680, 1997 FUN "Kondo M &: Science, 262, 1874-1877, 1993 FUN,PAT "Leonard WJ: Annu Rev Med, 47, 229-239, 1996 MUT "Noguchi M &: Cell, 73, 147-157, 1993a CLO,LOC "Noguchi M &: JBC, 268, 13601-13608, 1993b CLO,SEQ,STR "Noguchi M &: Science, 262, 1877-1880, 1993c FUN "Ohbo K &: JBC, 270, 7479-7486, 1995 MUT "Pepper AE &: AJHG, 57, 564-571, 1995 MUT "Puck JM &: J Clin Invest, 95, 895-899, 1995 CLO,LOC "Puck JM &: AJHG, 53, 176-184, 1993a CLO,LOC "Puck JM &: Hum Mol Genet, 2, 1099-1104, 1993b CLO,LOC "Puck JM &: CCG, 58, 2082-2083, 1991 CLO,LOC "Puck JM &: New Engl J Med, 322, 1063-1066, 1990 CLO,SEQ "Puck JM &: AJHG, 44, 724-730, 1989a CLO,SEQ "Puck JM &: CCG, 51, (HGM10), 1061, 1989b FUN "Russell SM &: Science, 262, 1880-1883, 1993 MUT "Schmalstieg FC &: J Clin Invest, 95, 1169-1173, 1995 CLO,SEQ "Takeshita T &: Science, 257, 379-382, 1992 |
SWI | SWISSPROT: P31785 |
KEY | imm, recp, mem |
CLA | coding, basic |
LOC | 0X q13.1 |
MIM | MIM: 308380 |
SYN | SCIDX1 |
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