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- Title
Günlük Klinik Rutinde Sık Kullanılan Basit Laboratuvar Testlerinden (Primer) İmmün Yetmezlik Hastalığına Yaklaşım.
- Authors
Özdemir, Öner
- Abstract
Primary immune deficiency disease (PIDD) is a hereditary disorder, attributable to inherent defects in diverse elements of the immune system. PIDD causes susceptibility to infections and is frequently associated with a tendency to autoimmunity and/or immune dysregulation. Up-to-date, more than 330 PIDD have been defined and the molecular (genetic) origins for more than 320 of them are described. In this group, primary antibody deficiencies are the most common group and approximately 50% of PIDD patients have this defect. Clinical findings of PIDD typically appear early in life, although cases with delayed onset are progressively more documented. Affected PIDD patients usually manifest in clinic with recurrent infections, severe infections, or both, plus autoimmunity development that are accompanied with most of the PIDD. Timely diagnosis is indispensable for transferring patients to specialized centers and the commencement of proper treatment including stem cell transplantation. Consequently, the prompt diagnosis of PIDD is necessary for best possible management and better outcomes. In this review, a basic approach for the exploration of the most common PIDDs is described, outlining some of the typical clinical findings and most appropriate laboratory investigations from simple complete blood count to advanced genetic tests such as next generation sequencing.
- Subjects
AUTOIMMUNE diseases; IMMUNOLOGICAL deficiency syndrome complications; IMMUNOLOGICAL deficiency syndrome treatment; BLOOD cell count; CLINICAL pathology; DISEASE susceptibility; HEMATOPOIETIC stem cell transplantation; IMMUNE system; IMMUNOGLOBULINS; IMMUNOLOGICAL deficiency syndromes; GENETIC testing; SEQUENCE analysis; SYMPTOMS; DISEASE risk factors
- Publication
Journal of Current Pediatrics / Guncel Pediatri, 2019, Vol 17, Issue 1, p151
- ISSN
1304-9054
- Publication type
Article