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Titel:

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

Dokumenttyp:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Autor(en):
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,...     »
Zeitschriftentitel:
J Allergy Clin Immunol
Jahr:
2013
Band / Volume:
132
Heft / Issue:
1
Seitenangaben Beitrag:
151-8
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.jaci.2013.04.047
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/23727036
Print-ISSN:
0091-6749
TUM Einrichtung:
Institut für Klinische Chemie und Pathobiochemie
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