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.

Comprehensive Report of Primary Immunodeficiency Disorders from a Tertiary Care Center in Marrakesh.

“…We have expected that the combined immunodeficiencies with associated or syndromic features were the most common in our study including 48.15% of patients. Also, the predominant category of PIDs in the ESID, LAGID registries is antibody deficiencies [8][9][10][11][12][13][14][15], however, this category represents only 7.4% in our study.…”

Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies

“…Despite high prevalence of mutations in complement genes [the most common are mutations in C2 with a prevalence about 1:20,000 individuals ( 14 )], CD represent only a minority of all PID in most national PID registries. Only 16 out of 3,083 (0.5%; year 2009), 13 out of 1,368 (0.9%; year 2012), 4 out of 147 (2.7%; year 2010), and 16 out of 348 (4.6%; year 2014) patients with CD were registered in the French ( 15 ), German ( 16 ), Greek ( 17 ), and Swiss ( 18 ) national PID registries, respectively. Low prevalence of CD was observed in the ESID registry as well.…”

Patient’s Experience in Pediatric Primary Immunodeficiency Disorders: Computerized Classification of Questionnaires

“…Early diagnosis is of paramount importance because the delay leads to increased mortality, morbidity, and reduced quality of life (3, 4). Although the time to diagnosis varies, diagnostic delay is common (5–8). …”