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

Fethi Mellouli (1, 2) , Imen Ben Mustapha (3, 1) , Monia Ben Khaled (2, 1) , Habib Besbes (2, 1) , Monia Ouederni (2, 1) , Najla Mekki (1, 3) , Meriem Ben Ali (1, 3) , Beya Larguèche (1, 3) , Mongia Hachicha (4) , Tahar Sfar (5) , Neji Gueddiche (6) , Siheme Barsaoui (7) , Azza Sammoud (8) , Khadija Boussetta (9) , Saida Ben Becher (10) , Ahmed Meherzi (11) , Najoua Guandoura (12) , Lamia Boughammoura (13) , Abdelaziz Harbi (14) , Fethi Amri (15) , Fethi Bayoudh (16) , Najla Ben Jaballah (17) , Neji Tebib (18) , Asma Bouaziz (19) , Abdelmajid Mahfoudh (4) , Hajer Aloulou (19) , Lamia Ben Mansour (4) , Imen Chabchoub (4) , Raoudha Boussoffara (5) , Jalel Chemli (5, 14) , Jihène Bouguila (13) , Saida Hassayoun (14) , Saber Hammami (6) , Zakia Habboul (6) , Jamel Ammar , Mohamed-Ridha Barbouche (3) , Mohamed Bejaoui (2, 1)

1 Faculté de Médecine de Tunis
2 Ctr Natl Greffe Moelle Osseuse -Tunis
3 Institut Pasteur de Tunis
4 Hedi Chaker Hospital [Sfax]
5 Serv Pediat
6 Département pédiatrique [Hôpital Fattouma Bourguiba - Monastir]
7 Serv Pediat
8 Serv Pediat B
9 Serv Pediat C
10 Serv Pediat PUC
11 Centre Hospitalier Universitaire Mongi Slim [La Marsa]
12 hopital bizerte
13 Hôpital Farhat Hached, Sousse
14 Hopital Sahloul Sousse
15 Hôpital de Kairouan
16 Hôpital militaire-Tunis
17 Serv Reanim Pediat
18 Hôpital La Rabta [Tunis]
19 Hôpital de Nabeul

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. 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. 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. 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.

Keywords: Primary immunodeficiencies; diagnosis; management; treatments; Tunisia

Domains: Life Sciences [q-bio]

Fethi Mellouli, Imen Ben Mustapha, Monia Ben Khaled, Habib Besbes, Monia Ouederni, et al.. Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012). Journal of Clinical Immunology, 2015, 35 (8), pp.745-753. ⟨10.1007/s10875-015-0206-9⟩. ⟨pasteur-01375025⟩