Document Detail


Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
MedLine Citation:
PMID:  18505430     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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, IL7Ralpha 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.
Authors:
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; D Johnson
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-05-26
Journal Detail:
Title:  Clinical and experimental immunology     Volume:  153     ISSN:  1365-2249     ISO Abbreviation:  Clin. Exp. Immunol.     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-25     Completed Date:  2008-07-25     Revised Date:  2013-06-05    
Medline Journal Info:
Nlm Unique ID:  0057202     Medline TA:  Clin Exp Immunol     Country:  England    
Other Details:
Languages:  eng     Pagination:  75-80     Citation Subset:  IM    
Affiliation:
Department of Paediatric Immunology, Newcastle upon Tyne Hospitals Foundation Trust, Newcastle upon Tyne, UK. a.r.gennery@ncl.ac.uk
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MeSH Terms
Descriptor/Qualifier:
B-Lymphocytes / immunology*
DNA Helicases / genetics*
DNA-Binding Proteins / genetics*
Disease Progression
Female
Genotype
Humans
Infant
Infant, Newborn
Killer Cells, Natural / immunology
Male
Mutation*
Severe Combined Immunodeficiency / genetics*
Syndrome
T-Lymphocytes / immunology*
Thymus Gland / abnormalities
Chemical
Reg. No./Substance:
0/DNA-Binding Proteins; EC 3.6.1.-/DNA Helicases; EC 3.6.4.12/CHD7 protein, human
Comments/Corrections

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