Immunological abnormalities in CHARGE syndrome.
Eur J Med Genet
; 50(5): 338-45, 2007.
Article
in En
| MEDLINE
| ID: mdl-17684005
ABSTRACT
Immune deficiency can be part of CHARGE syndrome but often receives only limited attention. We present two patients with CHARGE syndrome confirmed CHD7 mutations who had severe T-cell deficiency, and review 15 CHARGE patients from the literature with immunological problems. Most of them had severe T-cell deficiency, although the spectrum also included mild T-cell deficiency and isolated humoral immune deficiency. We conclude that immunodeficiency can form an important symptom in CHARGE syndrome although the frequency and exact nature are still insufficiently known. We propose to evaluate immune functions in all CHARGE syndrome patients, to estimate the frequency and nature of the accompanying immunodeficiency, and to obtain better data regarding prognosis and management.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
Type of study:
Prognostic_studies
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Eur J Med Genet
Journal subject:
GENETICA MEDICA
Year:
2007
Document type:
Article
Affiliation country:
United kingdom