Immunological abnormalities in CHARGE syndrome
K Writzl, CM Cale, CM Pierce, LC Wilson… - European journal of …, 2007 - Elsevier
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 …
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 …