title: Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency-a Report from the Slovenian National Registry.
abstract: An abnormal regulation of immune responses leads to autoimmune and inflammatory manifestations in patients with primary immunodeficiencies (PIDs). The objective of our study was to evaluate the frequency of non-infectious and non-malignant manifestations in a large cohort of patients included in the Slovenian national PID registry and to assess the time of manifestation onset with respect to the time of PID diagnosis. Medical records of registered patients were reviewed. Data on autoimmunity, lymphoproliferation, autoinflammation, allergies, PID diagnosis, and underlying genetic defects were collected and analyzed. The time of each manifestation onset was determined and compared with the time of PID diagnosis. As of May 2015, 247 patients with 50 different PIDs were registered in the Slovenian national PID registry (147 males, 100 females; mean age 20 years). Mean disease duration was 14 years; 78 % of patients were younger than 18 years; and 22 % of patients were adults. Diagnosis of PID was genetically confirmed in 51 % of patients. Non-infectious and non-malignant manifestations were present in 69/235 (29 %) patients, including autoimmune manifestations in 52/235 (22 %), lymphoproliferative/granulomatous in 28/235 (12 %), autoinflammatory in 12/247 (5 %), and allergic manifestations in 10/235 (4 %) of all registered patients. Autoimmune manifestations were present in all patients whose PIDs were classified as diseases of immune dysregulation, 47 % of patients with chronic granulomatous disease, and 38 % of patients with predominantly antibody immune deficiencies. A high prevalence of non-infectious and non-malignant manifestations among patients in the Slovenian national PID registry suggests common genetic factors of autoimmunity, inflammation, and immunodeficiency. Patients with PID should be routinely screened for autoimmune and inflammatory manifestations at the time of PID diagnosis and during the long-term follow up.
authors: Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Center Ljubljana, Ljubljana, Slovenia. stefan.blazina@kclj.si.
authors: Štefan
authors: Š
authors: Blazina
authors: Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Center Ljubljana, Ljubljana, Slovenia.
authors: Gašper
authors: G
authors: Markelj
authors: Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Center Ljubljana, Ljubljana, Slovenia.
authors: Anja Koren
authors: AK
authors: Jeverica
authors: Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Center Ljubljana, Ljubljana, Slovenia.|Department of Paediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
authors: Nataša
authors: N
authors: Toplak
authors: Department of Endocrinology, Diabetes and Metabolic Diseases, Children's Hospital Ljubljana, University Medical Center Ljubljana, Ljubljana, Slovenia.
authors: Nevenka
authors: N
authors: Bratanič
authors: Department of Paediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.|Department of Haematology and Oncology, Children's Hospital Ljubljana, University Medical Center Ljubljana, Ljubljana, Slovenia.
authors: Janez
authors: J
authors: Jazbec
authors: University Clinic of Pulmonary and Allergic Diseases Golnik, Golnik, Slovenia.
authors: Peter
authors: P
authors: Kopač
authors: Department of Special Laboratory Diagnostics, Children's Hospital Ljubljana, University Medical Center Ljubljana, Ljubljana, Slovenia.
authors: Maruša
authors: M
authors: Debeljak
authors: Institute of Microbiology and Immunology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
authors: Alojz
authors: A
authors: Ihan
authors: Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Center Ljubljana, Ljubljana, Slovenia.|Department of Paediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
authors: Tadej
authors: T
authors: Avčin
mesh_terms: D000328:Adult; D015551:Autoimmunity / Q000276:immunology*; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000453:epidemiology / Q000276:immunology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000453:epidemiology* / Q000276:immunology*; D007249:Inflammation / Q000453:epidemiology* / Q000276:immunology*; D008297:Male; D015995:Prevalence; D012042:Registries; D012189:Retrospective Studies; D017524:Slovenia / Q000453:epidemiology; D055815:Young Adult
keywords: Primary immunodeficiency; autoimmunity; inborn genetic diseases; inflammation; registry