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Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome
- Source :
- Archives of Disease in Childhood. 86:422-425
- Publication Year :
- 2002
- Publisher :
- BMJ, 2002.
-
Abstract
- 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.
- Subjects :
- Adult
Male
Adolescent
Chromosomes, Human, Pair 22
T-Lymphocytes
T cell
CD4-CD8 Ratio
Infections
medicine.disease_cause
Autoimmune Diseases
Autoimmunity
Immune system
Antigen
Recurrence
DiGeorge Syndrome
Humans
Medicine
Child
Immunodeficiency
Autoantibodies
Antigens, Bacterial
biology
business.industry
Polysaccharides, Bacterial
Autoantibody
Infant
medicine.disease
medicine.anatomical_structure
Child, Preschool
Pediatrics, Perinatology and Child Health
Immunology
Humoral immunity
biology.protein
Female
Original Article
Chromosome Deletion
Antibody
business
Subjects
Details
- ISSN :
- 14682044 and 00039888
- Volume :
- 86
- Database :
- OpenAIRE
- Journal :
- Archives of Disease in Childhood
- Accession number :
- edsair.doi.dedup.....98bd383d6f3d721f044a3d5dc274e5f2