Author information
- 1
- a Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center , Tehran University of Medical Sciences , Tehran , Iran.
- 2
- b Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital , Alborz University of Medical Sciences , Karaj , Iran.
- 3
- c Division of Clinical Immunology, Department of Laboratory Medicine , Karolinska Institutet at Karolinska University Hospital Huddinge , Stockholm , Sweden.
Abstract
BACKGROUND:
Ataxia telangiectasia (AT) is a primary immunodeficiency associated with recurrent infections. We aimed to investigate clinical and immunological classification in AT patients who suffer from a different spectrum of humoral immune defects.
METHODS:
AT patients were categorized according to the ability of class switching and patients with hyper IgM (HIgM) profile were defined as class switching defect (CSD).
RESULTS:
Serum immunoglobulin profile in 66 AT patients showed normal immunoglobulin level (22.8%), IgA deficiency (37.9%) and hypogammaglobulinemia (18.1%) in the majority of patients, while 21.2% had HIgM profile revealing CSD. CSD does not affect the frequency of infections, however, the frequency of lymphoproliferation (p < 0.001), and autoimmunity (p = 0.004) were significantly higher in this group. Neurologic symptoms in CSD patients are mild or appear after recurrent infections, therefore these patients were usually misdiagnosed as HIgM syndrome.
CONCLUSIONS:
Although most of AT patients have reduced IgA levels or normal immunoglobulin levels, but a fraction of these patients may show CSD ensuing HIgM-profile. CSD poses affected individuals at higher risk of non-infectious complications.
KEYWORDS:
Ataxia telangiectasia; IgA deficiency; class switching defect; humoral immune defects; hyper IgM syndrome; hypogammaglobulinemia; immune deficiency; infection
- PMID:
- 28162005
- DOI:
- 10.1080/1744666X.2017.1292131
- [Indexed for MEDLINE]