Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988–2012)

• Published in: Journal of clinical immunology Vol. 35; no. 8; pp. 745 - 753
• Main Authors: Mellouli, Fethi, Mustapha, Imen Ben, Khaled, Monia Ben, Besbes, Habib, Ouederni, Monia, Mekki, Najla, Ali, Meriem Ben, Larguèche, Beya, Hachicha, Mongia, Sfar, Tahar, Gueddiche, Neji, Barsaoui, Siheme, Sammoud, Azza, Boussetta, Khadija, Becher, Saida Ben, Meherzi, Ahmed, Guandoura, Najoua, Boughammoura, Lamia, Harbi, Abdelaziz, Amri, Fethi, Bayoudh, Fethi, Jaballah, Najla Ben, Tebib, Neji, Bouaziz, Asma, Mahfoudh, Abdelmajid, Aloulou, Hajer, Mansour, Lamia Ben, Chabchoub, Imen, Boussoffara, Raoudha, Chemli, Jalel, Bouguila, Jihène, Hassayoun, Saida, Hammami, Saber, Habboul, Zakia, Hamzaoui, Agnès, Ammar, Jamel, Barbouche, Mohamed-Ridha, Bejaoui, Mohamed
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.11.2015; Springer Nature B.V; Springer Verlag
• Subjects: Age of Onset; Antibodies - genetics; Antibodies - metabolism; B-Lymphocytes - physiology; Biomedical and Life Sciences; Biomedicine; Complement System Proteins - genetics; Consanguinity; Female; Humans; Immunologic Deficiency Syndromes - classification; Immunologic Deficiency Syndromes - epidemiology; Immunologic Deficiency Syndromes - mortality; Immunology; Infant; Infectious Diseases; Internal Medicine; Life Sciences; Male; Medical Microbiology; Original Article; Prevalence; Registries; Survival Analysis; T-Lymphocytes - physiology; Tunisia; Tunisia; diagnosis; Primary immunodeficiencies; management; Tunisia; treatments
• ISSN: 0271-9142; 1573-2592
• DOI: 10.1007/s10875-015-0206-9

Purpose Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to not only recurrent infections but also autoimmune diseases and malignancies. The aim of this study was to describe and analyze the distribution, clinical features and eventual outcome of PID among Tunisian patients. Methods We reviewed the record of 710 patients diagnosed with Primary Immunodeficiency Diseases (PIDs) from the registry of the Tunisian Referral Centre for PIDs over a 25-year period. Results The male-to-female ratio was 1.4. The median age at the onset of symptoms was 6 months and at the time of diagnosis 2 years. The estimated prevalence was 4.3 per 100,000 populations. The consanguinity rate was found in 58.2 % of families. According to the International Union of Immunological Societies classification, spectrums of PIDs were as follows: combined T-cell and B-cell immunodeficiency disorders account for the most common category (28.6 %), followed by congenital defects of phagocyte (25.4 %), other well-defined immunodeficiency syndromes (22.7 %), predominant antibody deficiency diseases (17.7 %), diseases of immune dysregulation (4.8 %), defect of innate immunity (0.4 %) and complement deficiencies (0.4 %). Recurrent infections, particularly lower airway infections (62.3 %), presented the most common manifestation of PID patients. The overall mortality rate was 34.5 %, mainly observed with combined immunodeficiencies. Conclusion The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of Combined Immunodeficiencies and phagocyte defects in number and/or function. More is needed to improve PID diagnosis and treatment in our country.