Article
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.
The Journal of allergy and clinical immunology - 1 Jul 2013
Jabara Haifa H, Ohsumi Toshiro, Chou Janet, Massaad Michel J, Benson Halli, Megarbane Andre, Chouery Eliane, Mikhael Raymond, Gorka Oliver, Gewies Andreas, Portales Pierre, Nakayama Toshinori, Hosokawa Hiroyuki, Revy Patrick, Herrod Henry, Le Deist Francoise, Lefranc Gerard, Ruland Jürgen, Geha Raif S
Abstract excerpt
BACKGROUND: Combined immunodeficiency (CID) is characterized by severe recurrent infections with normal numbers of T and B lymphocytes but with deficient cellular and humoral immunity. Most cases are sporadic, but autosomal recessive inheritance has been described. In most cases, the cause of CID remains unknown. OBJECTIVE: We wanted to identify the genetic cause of CID in 2 siblings, the products of a...
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