Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome
نویسندگان
چکیده
منابع مشابه
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 infecti...
متن کاملANTIBODY DEFICIENCY AND AUTOIMMUNITY IN 22q11.2 DELETION SYNDROME
Gennery A, Barge D, O’Sullivan J, et al. Arch Dis Child. 2002;86:422–425 Purpose of the Study. The aim of this study was to investigate humoral immunity, particularly antibody response to pneumococcal polysaccharide, and autoimmune anomalies in a cohort of patients with 22q11 deletion. Study Population. Thirty-two patients from the Newcastle, United Kingdom (UK) Pediatric Immunology Clinic were...
متن کاملANTIBODY DEFICIENCY AND AUTOIMMUNITY IN 22q11.2 DELETION SYNDROME
Gennery A, Barge D, O’Sullivan J, et al. Arch Dis Child. 2002;86:422–425 Purpose of the Study. The aim of this study was to investigate humoral immunity, particularly antibody response to pneumococcal polysaccharide, and autoimmune anomalies in a cohort of patients with 22q11 deletion. Study Population. Thirty-two patients from the Newcastle, United Kingdom (UK) Pediatric Immunology Clinic were...
متن کاملSpecific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency.
Immunoglobulin (Ig) A deficiency has long been recognized in patients with chromosome 18 abnormalities. We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated pneumococcal polysaccharide vaccine, Pneumovax II, indicating a concomitant specif...
متن کاملEvans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome
We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2002
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.86.6.422