Immune deficiency in CHARGE association.
CHARGE association is the sporadic, non-random concurrence of Coloboma of the eye, Heart anomalies, choanal Atresia, Retardation of growth and development, Genitourinary anomalies, Ear anomalies and deafness (CHARGE association). Other abnormalities have also been reported in small numbers of patients with CHARGE association. The molecular basis of the CHARGE association is not clear. The spectrum of CHARGE association anomalies is wide and includes multiple systems. CHARGE association shares features with DiGeorge sequence, but no specific immune abnormalities are identified with the CHARGE association. The present study reports immune defects observed in three patients with CHARGE association. All patients presented with frequent upper and lower respiratory infections. The underlying immune abnormalities differ: one patient has impaired T-cell proliferation and poor antibody response to polysaccharide (pneumococcal) antigens; another has T-cell lymphopenia; and the third has a mild IgG2 subclass deficiency. Their course has so far been benign and they are all managed with prophylactic antibiotics. Although no single abnormality of the immune system is recognized in these patients, immune deficiency is considered among the occasional components of the CHARGE association.
Theodoropoulos
Demetrios S
DS
Department of Allergy, Marshfield Clinic, Marshfield, Wisconsin 54449, USA. theodoropoulos.demetrios@marshfieldclinic.org
D000015:Abnormalities, Multiple / Q000276:immunology*; D000906:Antibodies / Q000276:immunology; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications; D003638:Deafness / Q000150:complications; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007154:Immune System Diseases / Q000150:complications*; D008607:Intellectual Disability / Q000150:complications; D008231:Lymphopenia / Q000150:complications; D008297:Male; D013601:T-Lymphocytes / Q000276:immunology*
D000906:Antibodies