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, 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.
journal_name
Clin Exp Immunoljournal_title
Clinical and experimental immunologyauthors
Gennery AR,Slatter MA,Rice J,Hoefsloot LH,Barge D,McLean-Tooke A,Montgomery T,Goodship JA,Burt AD,Flood TJ,Abinun M,Cant AJ,Johnson Ddoi
10.1111/j.1365-2249.2008.03681.xsubject
Has Abstractpub_date
2008-07-01 00:00:00pages
75-80issue
1eissn
0009-9104issn
1365-2249pii
CEI3681journal_volume
153pub_type
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