A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

HH Jabara, T Ohsumi, J Chou, MJ Massaad… - Journal of allergy and …, 2013 - Elsevier
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 first-cousin marriage, who
experienced recurrent bacterial and candidal infections with bronchiectasis, growth delay …