title: Primary immunodeficiency diseases: a 30-year patient registry from the referral center for primary immunodeficiencies in Greece.
abstract: Primary Immunodeficiencies (PID) represent a group of heterogeneous immune diseases with important biological significance. We reviewed the records of children diagnosed with PID in the Referral Center for PID in our country in order to describe the epidemiological, clinical and laboratory characteristics of immunodeficient patients. During a 30-year period, 147 patients (101 males, 68.7 %), with a mean age of 6.5 years at the time of diagnosis, were diagnosed with PID. The most prevalent diagnoses of PID were: "Combined Immunodeficiency" in 46 (31.3 %) patients, "Well-defined immunodeficiency syndrome" in 35 (23.1 %) patients, "Predominantly antibody deficiency" in 30 (20.4 %) patients and "Congenital defect of phagocyte function or both" in 28 (19 %) patients. There was a higher prevalence of males with "Combined immunodeficiency" (p < 0.033) and "Predominantly antibody deficiency" (p < 0.02) compared to females. The median age of children at the onset of symptoms and at the time of diagnosis was 0.5y (IQR: 0.1-2.5) and 2y (IQR: 0.6-7.2), respectively. The median diagnostic delay was 0.9y (IQR: 0.2-4.8). This period was shorter for patients with "Combined immunodeficiency" [median 0.3y (IQR: 0.1-1)], and longer for those with "Predominantly antibody deficiency" [median 3.2y (IQR: 0.2-5.9) or "Disease of immune dysregulation" [median 3.2y (IQR: 0.1-6.6)]. Comparing the rates in our population with those of the European Registry (ESID), the rates of "Combined immunodeficiencies", "Well-defined syndromes" and "Congenital birth defects and/or function of phagocytes" were significantly higher in this study (p <0,001). PID registry analysis improves knowledge in the field of Immunology and enhances awareness, early detection, diagnosis, and management of this rare but significant group of diseases.
authors: Department of Immunology-Histocompatibility, Specialized Center & Referral Center for Primary Immunodeficiencies - Paediatric Immunology, "Aghia Sophia" Children's Hospital, Thivon & Papadiamantopoulou St, 11527, Athens, Greece.
authors: Athanasios
authors: A
authors: Michos
authors: Maria
authors: M
authors: Raptaki
authors: Sofia
authors: S
authors: Tantou
authors: Marianna
authors: M
authors: Tzanoudaki
authors: Kleopatra
authors: K
authors: Spanou
authors: Manolis
authors: M
authors: Liatsis
authors: Nikki
authors: N
authors: Constantinidou
authors: Evangelia
authors: E
authors: Paschali
authors: Ioanna
authors: I
authors: Varela
authors: Olga
authors: O
authors: Moraloglou
authors: Chryssa
authors: C
authors: Bakoula
authors: Maria
authors: M
authors: Kanariou
mesh_terms: D002648:Child; D002675:Child, Preschool; D042241:Early Diagnosis; D005060:Europe; D006115:Greece; D066275:Health Information Exchange; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000453:epidemiology* / Q000276:immunology; D007223:Infant; D008297:Male; D044382:Population Groups; D015995:Prevalence; D012017:Referral and Consultation; D012042:Registries; D012737:Sex Factors