A nonsense mutation in IKBKB causes combined immunodeficiency-Reference-Cited by-同舟云学术

A nonsense mutation in IKBKB causes combined immunodeficiency

Published:2014-09-25 Issue:13 Volume:124 Page:2046-2050
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Mousallem Talal¹²³,Yang Jialong²³,Urban Thomas J.⁴³,Wang Hongxia²⁵³,Adeli Mehdi⁶³,Parrott Roberta E.²³,Roberts Joseph L.²³,Goldstein David B.⁴³,Buckley Rebecca H.²⁵³^ORCID,Zhong Xiao-Ping²⁵³

Affiliation:

1. Department of Internal Medicine, Section of Pulmonary, Critical Care, Allergy and Immunological Diseases, Wake Forest University School of Medicine, Wake Forest Baptist Medical Center, Winston-Salem, NC;

2. Department of Pediatrics, Division of Allergy and Immunology,

3. Laboratory Medicine Center, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China

4. Center for Human Genome Variation, and

5. Department of Immunology, Duke University Medical Center, Durham, NC;

6. Hamad Medical Corporation, Doha, Qatar; and

Abstract

Key PointsA nonsense mutation in IKBKB caused the absence of IKKβ and a lack of T- and B-cell activation through their antigen receptors. IKKβ is not necessary for development of T or B lymphocytes but is important for their activation and for the development/function of NK cells.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/124/13/2046/1379980/2046.pdf

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4. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.;Feske;Nature,2006

5. STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.;Picard;N Engl J Med,2009

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