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Document type:
journal article 
Author(s):
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 
Title:
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. 
Abstract:
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.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,...    »
 
Journal title abbreviation:
J Allergy Clin Immunol 
Year:
2013 
Journal volume:
132 
Journal issue:
Pages contribution:
151-8 
Language:
eng 
Print-ISSN:
0091-6749 
TUM Institution:
Institut für Klinische Chemie und Pathobiochemie