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Title:

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

Document type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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
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:
1
Pages contribution:
151-8
Language:
eng
Fulltext / DOI:
doi:10.1016/j.jaci.2013.04.047
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/23727036
Print-ISSN:
0091-6749
TUM Institution:
Institut für Klinische Chemie und Pathobiochemie
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