Fethi Mellouli1,2, Imen Ben Mustapha3,4, Monia Ben Khaled5,3, Habib Besbes5,3, Monia Ouederni5,3, Najla Mekki3,4, Meriem Ben Ali3,4, Beya Larguèche3,4, Mongia Hachicha6, Tahar Sfar7, Neji Gueddiche8, Siheme Barsaoui9, Azza Sammoud10, Khadija Boussetta11, Saida Ben Becher12, Ahmed Meherzi13, Najoua Guandoura14, Lamia Boughammoura15, Abdelaziz Harbi16, Fethi Amri17, Fethi Bayoudh18, Najla Ben Jaballah19, Neji Tebib20, Asma Bouaziz21, Abdelmajid Mahfoudh6, Hajer Aloulou6, Lamia Ben Mansour6, Imen Chabchoub6, Raoudha Boussoffara7, Jalel Chemli16, Jihène Bouguila15, Saida Hassayoun16, Saber Hammami8, Zakia Habboul8, Agnès Hamzaoui22, Jamel Ammar22, Mohamed-Ridha Barbouche3,4, Mohamed Bejaoui5,3. 1. Service d'immuno hématologie pédiatriques, Centre National de Greffe de Moelle Osseuse de Tunis, 13 Rue du Djebel Lakhdhar, 1006, Tunis, Tunisia. melloulif@yahoo.fr. 2. Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia. melloulif@yahoo.fr. 3. Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia. 4. Laboratoire d'immunologie, Institut Pasteur de Tunis, Tunis, Tunisia. 5. Service d'immuno hématologie pédiatriques, Centre National de Greffe de Moelle Osseuse de Tunis, 13 Rue du Djebel Lakhdhar, 1006, Tunis, Tunisia. 6. Service de pédiatrie, hôpital de Sfax, Sfax, Tunisia. 7. Service de pédiatrie, hôpital de Mehdia, Mehdia, Tunisa. 8. Service de pédiatrie, hôpital de Monastir, Monastir, Tunisia. 9. Service de pédiatrie A, hôpital Bechir Hamza de Tunis, Tunis, Tunisia. 10. Service de pédiatrie B, hôpital Bechir Hamza de Tunis, Tunis, Tunisia. 11. Service de pédiatrie C, hôpital Bechir Hamza de Tunis, Tunis, Tunisia. 12. Service de pédiatrie PUC, hôpital Bechir Hamza de Tunis, Tunis, Tunisia. 13. Service de pédiatrie, hôpital Mongi Slim La Marsa, La Marsa, Tunisia. 14. Service de pédiatrie, hôpital de Bizerte, Bizerte, Tunisia. 15. Service de pédiatrie, hôpital Farhat Hached de Sousse, Sousse, Tunisia. 16. Service de pédiatrie, hôpital Sahloul de Sousse, Sousse, Tunisia. 17. Service de pédiatrie, hôpital de Kairouan, Kairouan, Tunisia. 18. Service de pédiatrie, hôpital Militaire de Tunis, Tunis, Tunisia. 19. Service de réanimation pédiatrique, hôpital Bechir Hamza de Tunis, Tunis, Tunisia. 20. Service de pédiatrie, hôpital La Rabta de Tunis, Tunis, Tunisia. 21. Service de pédiatrie, hôpital de Nabeul, Nabeul, Tunisia. 22. Service de pneumologie, hôpital l'Ariana de Tunis, Tunis, Tunisia.
Abstract
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.
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.
Authors: A Condino-Neto; R U Sorensen; A C Gómez Raccio; A King; F J Espinosa-Rosales; J L Franco Journal: Allergol Immunopathol (Madr) Date: 2014-10-05 Impact factor: 1.667
Authors: Vicki Modell; Megan Knaus; Fred Modell; Chaim Roifman; Jordan Orange; Luigi D Notarangelo Journal: Immunol Res Date: 2014-10 Impact factor: 2.829
Authors: Waleed Al-Herz; Aziz Bousfiha; Jean-Laurent Casanova; Helen Chapel; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Alain Fischer; Jose Luis Franco; Raif S Geha; Lennart Hammarström; Shigeaki Nonoyama; Luigi Daniele Notarangelo; Hans Dieter Ochs; Jennifer M Puck; Chaim M Roifman; Reinhard Seger; Mimi L K Tang Journal: Front Immunol Date: 2011-11-08 Impact factor: 7.561
Authors: Anderson Dik Wai Luk; Pamela P Lee; Huawei Mao; Koon-Wing Chan; Xiang Yuan Chen; Tong-Xin Chen; Jian Xin He; Nadia Kechout; Deepti Suri; Yin Bo Tao; Yong Bin Xu; Li Ping Jiang; Woei Kang Liew; Orathai Jirapongsananuruk; Tassalapa Daengsuwan; Anju Gupta; Surjit Singh; Amit Rawat; Amir Hamzah Abdul Latiff; Anselm Chi Wai Lee; Lynette P Shek; Thi Van Anh Nguyen; Tek Jee Chin; Yin Hsiu Chien; Zarina Abdul Latiff; Thi Minh Huong Le; Nguyen Ngoc Quynh Le; Bee Wah Lee; Qiang Li; Dinesh Raj; Mohamed-Ridha Barbouche; Meow-Keong Thong; Maria Carmen D Ang; Xiao Chuan Wang; Chen Guang Xu; Hai Guo Yu; Hsin-Hui Yu; Tsz Leung Lee; Felix Yat Sun Yau; Wilfred Hing-Sang Wong; Wenwei Tu; Wangling Yang; Patrick Chun Yin Chong; Marco Hok Kung Ho; Yu Lung Lau Journal: Front Immunol Date: 2017-07-12 Impact factor: 7.561