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Göteborgs universitets publikationer

Antibody deficiency in adults with 22q11.2 deletion syndrome.

Författare och institution:
Aron H. Björk (Institutionen för biomedicin, avdelningen för infektionssjukdomar); Sólveig Oskarsdóttir (Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik); Bengt A. Andersson (Institutionen för biomedicin, avdelningen för mikrobiologi och immunologi); Vanda Friman (Institutionen för biomedicin, avdelningen för infektionssjukdomar)
Publicerad i:
American journal of medical genetics. Part A, 158A ( 8 ) s. 1934-1940
Artikel, refereegranskad vetenskaplig
Sammanfattning (abstract):
There are limited data on immunological disorders, infection profile, and autoimmunity among adults with the 22q11.2 deletion syndrome (22q11.2DS) in the literature. To expand this knowledge base, we evaluated immunoglobulin levels, lymphocyte subsets, and T-cell function in 26 adults, consecutively referred to our 22q11.2DS multidisciplinary team. Their medical records were also reviewed with respect to frequency and severity of infections and autoimmune disorders. Six patients had low immunoglobulin levels; among these patients, one had a combined IgA and IgG1 deficiency, one had an isolated IgG3 deficiency, and four had a profound antibody deficiency comparable to common variable immunodeficiency (CVID). Three of the patients with profound antibody deficiency showed signs of reduced T-cell function measured as a low response to mitogen and/or antigen stimulation. The four patients with profound antibody deficiency suffered from more severe infections than the rest of the patient group. Three of them also had a history of both immune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AHA). Our results suggest that a subgroup of individuals with 22q11.2DS can develop a severe antibody deficiency associated with lower respiratory tract infections and autoimmune conditions. Early diagnosis of hypogammaglobulinemia among these individuals is important in order to provide optimal treatment. We therefore recommend an immunological evaluation and follow-up among adults with 22q11.2DS who have a history of autoimmune conditions or recurrent infections. © 2012 Wiley Periodicals, Inc.
Ämne (baseras på Högskoleverkets indelning av forskningsämnen):
Klinisk medicin
22q11.2 deletion syndrome; DiGeorge syndrome; velocardiofacial syndrome; immunodeficiency; common variable immunodeficiency; infections; autoimmunity
Postens nummer:
Posten skapad:
2012-07-16 10:39
Posten ändrad:
2012-08-13 16:05

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