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Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome

Lookup NU author(s): Professor Andrew GenneryORCiD, Dr John O'Sullivan, Dr Terence Flood, Dr Mario Abinun, Professor Andrew Cant


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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. Aims: 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 greater than or equal to4 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.

Publication metadata

Author(s): Flood TJ; O'Sullivan JJ; Abinun M; Cant AJ; Gennery AR; Barge D

Publication type: Article

Publication status: Published

Journal: Archives of Disease in Childhood

Year: 2002

Volume: 86

Issue: 6

Pages: 422-425

ISSN (print): 0003-9888

ISSN (electronic):

Publisher: BMJ Group


DOI: 10.1136/adc.86.6.422


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