ORIGINAL ARTICLE

Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome

A R Gennery¹, D Barge², J J O'Sullivan³, T J Flood¹, M Abinun¹, A J Cant¹

¹ Department of Paediatric Immunology, Newcastle General Hospital, Newcastle upon Tyne NE4 6BE, UK
² Department of Clinical Immunology, Royal Victoria Infirmary, Newcastle upon Tyne
³ Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne

Correspondence to:
Correspondence to:
Dr A R Gennery, Department of Paediatric Immunology, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne NE4 6BE, UK;
ARGennery{at}aol.com

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 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.

Keywords: 22q11.2 deletion; humoral immunodeficiency; polysaccharide antibody deficiency; autoimmunity

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