Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/82698
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Type: Journal article
Title: Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome
Author: Gennery, A.
Slatter, M.
Rice, J.
Hoefsloot, L.
Barge, D.
McLean-Tooke, A.
Montgomery, T.
Goodship, J.
Burt, A.
Flood, T.
Abinun, M.
Cant, A.
Johnson, D.
Citation: Clinical and Experimental Immunology, 2008; 153(1):75-80
Publisher: Blackwell Publishing Ltd
Issue Date: 2008
ISSN: 0009-9104
1365-2249
Statement of
Responsibility: 
A. R. Gennery, M. A. Slatter, J. Rice, L. H. Hoefsloot, D. Barge, A. McLean-Tooke, T. Montgomery, J. A. Goodship, A. D. Burt, T. J. Flood, M. Abinun , A. J. Cant and D. Johnson
Abstract: More than 11 genetic causes of severe combined immunodeficiency (SCID) have been identified, affecting development and/or function of T lymphocytes, and sometimes B lymphocytes and natural killer (NK) cells. Deletion of 22q11.2 is associated with immunodeficiency, although less than 1% of cases are associated with T–B + NK + SCID phenotype. Severe immunodeficiency with CHARGE syndrome has been noted only rarely Omenn syndrome is a rare autosomal recessive form of SCID with erythroderma, hepatosplenomegaly, lymphadenopathy and alopecia. Hypomorphic recombination activating genes 1 and 2 mutations were first described in patients with Omenn syndrome. More recently, defects in Artemis, RMRP, IL7Rα and common gamma chain genes have been described. We describe four patients with mutations in CHD7, who had clinical features of CHARGE syndrome and who had T–B + NK + SCID (two patients) or clinical features consistent with Omenn syndrome (two patients). Immunodeficiency in patients with DiGeorge syndrome is well recognized − CHARGE syndrome should now be added to the causes of T–B + NK + SCID, and mutations in the CHD7 gene may be associated with Omenn-like syndrome.
Keywords: CHARGE syndrome
CHD7
DiGeorge syndrome
graft versus host disease
microdeletion 22q11
Omenn syndrome
severe combined immunodeficiency
thymic aplasia
Rights: © 2008 British Society for Immunology
DOI: 10.1111/j.1365-2249.2008.03681.x
Published version: http://dx.doi.org/10.1111/j.1365-2249.2008.03681.x
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