Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.
Stepensky, Polina; Keller, Baerbel; Buchta, Mary; Kienzler, Ann-Kathrin; Elpeleg, Orly; Somech, Raz; Cohen, Sivan; Shachar, Idit; Miosge, Lisa A; Schlesier, Michael; Fuchs, Ilka; Enders, Anselm; Eibel, Hermann; Grimbacher, Bodo; Warnatz, Klaus
BACKGROUND: Profound combined immunodeficiency can present with normal numbers of T and B cells, and therefore the functional defect of the cellular and humoral immune response is often not recognized until the first severe clinical manifestation. Here we report a patient of consanguineous descent presenting at 13 months of age with hypogammaglobulinemia, Pneumocystis jirovecii pneumonia, and a suggestive family history. OBJECTIVE: We sought to identify the genetic alteration in a patient...[Show more]
|Collections||ANU Research Publications|
|Source:||Journal of Allergy and Clinical Immunology 131.2 (2013):477-485|
|Stepensky et al Deficiency of caspase 2013.docx.pdf||Submitted version||1.17 MB||Adobe PDF|
|1-s2.0-S0091674912026383-main.pdf||Published version||827.17 kB||Adobe PDF|
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