Author/Editor		Writzl, Karin; Cale, Catherine M; Pierce, Christine M; Wilson, Louise C; Hennekam, Raoul C
Title		Immunological abnormalities in CHARGE syndrome
Type		članek
Source		Eur J Med Genet
Vol. and No.		Letnik 50, št. 5
Publication year		2007
Volume		str. 338-45
Language		eng
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.
Descriptors		ABNORMALITIES DIGEORGE SYNDROME T-LYMPHOCYTES LYMPHOCYTE DEPLETION MUTATION CHROMOSOME DELETION CHILD