| 1 | IMD48, ZAP70
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| A novel Zap70 mutation with reduced protein stability demonstrates the rate-limiting threshold for Zap70 in T-cell receptor signalling.
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| Cauwe B, Tian L, Franckaert D, Pierson W, Staats KA, Schlenner SM, Liston A.
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| Immunology 141(3):377-87. doi: 10.1111/imm.12199. 2014
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| 2 | IMD48, ZAP70
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| Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity.
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| Picard C, Dogniaux S, Chemin K, Maciorowski Z, Lim A, Mazerolles F, Rieux-Laucat F, Stolzenberg MC, Debre M, Magny JP, Le Deist F, Fischer A, Hivroz C.
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| Eur J Immunol 39(7):1966-76. 2009
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| 3 | IMD48, ZAP70
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| Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling.
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| Toyabe S, Watanabe A, Harada W, Karasawa T, Uchiyama M.
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| Immunology 103(2):164-71.
2001
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| 4 | IMD48, ZAP70
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| Severe combined immunodeficiency due to a defect in the tyrosine kinase ZAP-70.
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| Elder ME.
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| Pediatr Res 39 : 743-748. 1996
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| 5 | IMD48, ZAP70
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| ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.
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| Chan AC, et al.
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| Science 264 : 1599-1601. 1994
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| 6 | IMD48, ZAP70
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| Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase.
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| Elder ME, et al.
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| Science 264 : 1596-1599. 1994
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