| 1 | CARD11, iMD11
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| A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family.
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| Desjardins M, Arjunaraja S, Stinson JR, Dorjbal B, Sundaresan J, Niemela J, Raffeld M, Matthews HF, Wang A, Angelus P, Su HC, Mazer BD, Snow AL.
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| Front Immunol. Dec 12;9:2944. doi: 10.3389/fimmu.2018.02944. eCollection 2018 2018
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| 2 | CARD11, IMD11
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| Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency.
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| Greil J, Rausch T, Giese T, Bandapalli OR, Daniel V, Bekeredjian-Ding I, Stütz AM, Drees C, Roth S, Ruland J, Korbel JO, Kulozik AE.
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| J Allergy Clin Immunol 131(5):1376-83.e3. doi: 10.1016/j.jaci.2013.02.012. Epub 2013 Apr 3.
2013
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| 3 | CARD11, IMD11
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| Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.
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| Stepensky P, Keller B, Buchta M, Kienzler AK, Elpeleg O, Somech R, Cohen S, Shachar I, Miosge LA, Schlesier M, Fuchs I, Enders A, Eibel H, Grimbacher B, Warnatz K.
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| J Allergy Clin Immunol 131(2):477-85.e1. doi: 10.1016/j.jaci.2012.11.050.
2013
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