Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects
P Stepensky, B Keller, M Buchta, AK Kienzler… - Journal of allergy and …, 2013 - Elsevier
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 with combined …
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 with combined …