Hyper-IgM syndrome with CHARGE association.
A girl with coloboma of the iris, sensorineural deafness, growth delay, distinctive face, and cranial nerve dysfunction was diagnosed of CHARGE association in the first year of life. She presented with repeated otitis. At 3 yr of age, the patient suffered a septicemia (Streptococcus pneumoniae, Corynebacterium sp.). The immunoglobulin G (IgG) and IgA serum levels were decreased, IgM increased and cellular immunity parameters were normal, supporting the diagnosis of hyper-IgM (HIM) syndrome. The sequence of CD40 ligand and cytidine deaminase genes were normal. From then on, she was receiving immunoglobulin intravenously with an excellent outcome. Here, we report the first case of CHARGE association and HIM syndrome in the same patient. Although the cause could not be identified, a non-random link is likely.
Bahillo
Pilar
P
Department of Pediatrics, Hospital Clínico, University of Valladolid, Valladolid, Spain.
Cantero
Teresa
T
Solís
Pilar
P
Aragón
Paz
P
Gómez
Samuel
S
Cambronero
Rosario
R
D000015:Abnormalities, Multiple / Q000209:etiology; D002675:Child, Preschool; D002754:Choanal Atresia / Q000209:etiology* / Q000276:immunology; D003103:Coloboma / Q000209:etiology*; D003389:Cranial Nerve Diseases / Q000209:etiology; D005145:Face / Q000002:abnormalities; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006130:Growth Disorders / Q000209:etiology* / Q000276:immunology; D006319:Hearing Loss, Sensorineural / Q000209:etiology* / Q000276:immunology; D006330:Heart Defects, Congenital / Q000209:etiology* / Q000276:immunology; D006801:Humans; D006942:Hypergammaglobulinemia / Q000097:blood / Q000175:diagnosis* / Q000209:etiology*; D007070:Immunoglobulin A / Q000097:blood / Q000276:immunology; D007074:Immunoglobulin G / Q000097:blood / Q000276:immunology; D007075:Immunoglobulin M / Q000097:blood* / Q000276:immunology; D007498:Iris / Q000002:abnormalities*; D010031:Otitis / Q000209:etiology; D013577:Syndrome
D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M