Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome.
BACKGROUND
Although severe T cell immunodeficiency in DiGeorge anomaly is rare, previous studies of humoral function in these patients have found no antibody abnormalities but have not examined the response to polysaccharide antigens. Isolated cases of autoimmunity have been reported. Several patients with 22q11.2 deletion attending our immunology clinic suffered recurrent sinopulmonary infection or autoimmune phenomena.


OBJECTIVE
To investigate humoral immunodeficiency, particularly pneumococcal polysaccharide antibody deficiency, and autoimmune phenomena in a cohort of patients with 22q11.2 deletion.


METHODS
A history of severe or recurrent infection and autoimmune symptoms were noted. Lymphocyte subsets, immunoglobulins, IgG subclasses, specific vaccine antibodies, and autoantibodies were measured. Subjects were vaccinated with appropriate antigens as indicated.


RESULTS
Of 32 patients identified, 26 (81%) had severe or recurrent infection, of which 13 (50%) had abnormal serum immunoglobulin measurements and 11/20 >/=4 years old (55%) had an abnormal response to pneumococcal polysaccharide. Ten of 30 patients (33%) had autoimmune phenomena; six (20%) were symptomatic.


CONCLUSIONS
Humoral immunodeficiency is more common than previously recognised in patients with 22q11.2 deletion. Normal T cell function and immunoglobulin levels do not exclude poor specific antibody responses. Patients should be referred for formal immunological assessment of cellular and humoral immune function.
Gennery
A R
AR
Department of Paediatric Immunology, Newcastle General Hospital, Newcastle upon Tyne NE4 6BE, UK. ARGennery@aol.com
Barge
D
D
O'Sullivan
J J
JJ
Flood
T J
TJ
Abinun
M
M
Cant
A J
AJ
D000293:Adolescent; D000328:Adult; D000942:Antigens, Bacterial / Q000276:immunology*; D001323:Autoantibodies / Q000032:analysis; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology*; D016516:CD4-CD8 Ratio; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics / Q000276:immunology*; D005260:Female; D006801:Humans; D007223:Infant; D007239:Infections / Q000235:genetics / Q000276:immunology*; D008297:Male; D011135:Polysaccharides, Bacterial / Q000276:immunology*; D012008:Recurrence; D013601:T-Lymphocytes / Q000276:immunology
D000942:Antigens, Bacterial; D001323:Autoantibodies; D011135:Polysaccharides, Bacterial