title: Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.affiliation: 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.|Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia. melloulif@yahoo.fr.
authors.forename: Fethi
authors.initials: F
authors.lastname: Mellouli
authors.affiliation: Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia.|Laboratoire d'immunologie, Institut Pasteur de Tunis, Tunis, Tunisia.
authors.forename: Imen Ben
authors.initials: IB
authors.lastname: Mustapha
authors.affiliation: Service d'immuno hématologie pédiatriques, Centre National de Greffe de Moelle Osseuse de Tunis, 13 Rue du Djebel Lakhdhar, 1006, Tunis, Tunisia.|Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia.
authors.forename: Monia Ben
authors.initials: MB
authors.lastname: Khaled
authors.affiliation: Service d'immuno hématologie pédiatriques, Centre National de Greffe de Moelle Osseuse de Tunis, 13 Rue du Djebel Lakhdhar, 1006, Tunis, Tunisia.|Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia.
authors.forename: Habib
authors.initials: H
authors.lastname: Besbes
authors.affiliation: Service d'immuno hématologie pédiatriques, Centre National de Greffe de Moelle Osseuse de Tunis, 13 Rue du Djebel Lakhdhar, 1006, Tunis, Tunisia.|Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia.
authors.forename: Monia
authors.initials: M
authors.lastname: Ouederni
authors.affiliation: Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia.|Laboratoire d'immunologie, Institut Pasteur de Tunis, Tunis, Tunisia.
authors.forename: Najla
authors.initials: N
authors.lastname: Mekki
authors.affiliation: Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia.|Laboratoire d'immunologie, Institut Pasteur de Tunis, Tunis, Tunisia.
authors.forename: Meriem Ben
authors.initials: MB
authors.lastname: Ali
authors.affiliation: Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia.|Laboratoire d'immunologie, Institut Pasteur de Tunis, Tunis, Tunisia.
authors.forename: Beya
authors.initials: B
authors.lastname: Larguèche
authors.affiliation: Service de pédiatrie, hôpital de Sfax, Sfax, Tunisia.
authors.forename: Mongia
authors.initials: M
authors.lastname: Hachicha
authors.affiliation: Service de pédiatrie, hôpital de Mehdia, Mehdia, Tunisa.
authors.forename: Tahar
authors.initials: T
authors.lastname: Sfar
authors.affiliation: Service de pédiatrie, hôpital de Monastir, Monastir, Tunisia.
authors.forename: Neji
authors.initials: N
authors.lastname: Gueddiche
authors.affiliation: Service de pédiatrie A, hôpital Bechir Hamza de Tunis, Tunis, Tunisia.
authors.forename: Siheme
authors.initials: S
authors.lastname: Barsaoui
authors.affiliation: Service de pédiatrie B, hôpital Bechir Hamza de Tunis, Tunis, Tunisia.
authors.forename: Azza
authors.initials: A
authors.lastname: Sammoud
authors.affiliation: Service de pédiatrie C, hôpital Bechir Hamza de Tunis, Tunis, Tunisia.
authors.forename: Khadija
authors.initials: K
authors.lastname: Boussetta
authors.affiliation: Service de pédiatrie PUC, hôpital Bechir Hamza de Tunis, Tunis, Tunisia.
authors.forename: Saida Ben
authors.initials: SB
authors.lastname: Becher
authors.affiliation: Service de pédiatrie, hôpital Mongi Slim La Marsa, La Marsa, Tunisia.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Meherzi
authors.affiliation: Service de pédiatrie, hôpital de Bizerte, Bizerte, Tunisia.
authors.forename: Najoua
authors.initials: N
authors.lastname: Guandoura
authors.affiliation: Service de pédiatrie, hôpital Farhat Hached de Sousse, Sousse, Tunisia.
authors.forename: Lamia
authors.initials: L
authors.lastname: Boughammoura
authors.affiliation: Service de pédiatrie, hôpital Sahloul de Sousse, Sousse, Tunisia.
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Harbi
authors.affiliation: Service de pédiatrie, hôpital de Kairouan, Kairouan, Tunisia.
authors.forename: Fethi
authors.initials: F
authors.lastname: Amri
authors.affiliation: Service de pédiatrie, hôpital Militaire de Tunis, Tunis, Tunisia.
authors.forename: Fethi
authors.initials: F
authors.lastname: Bayoudh
authors.affiliation: Service de réanimation pédiatrique, hôpital Bechir Hamza de Tunis, Tunis, Tunisia.
authors.forename: Najla Ben
authors.initials: NB
authors.lastname: Jaballah
authors.affiliation: Service de pédiatrie, hôpital La Rabta de Tunis, Tunis, Tunisia.
authors.forename: Neji
authors.initials: N
authors.lastname: Tebib
authors.affiliation: Service de pédiatrie, hôpital de Nabeul, Nabeul, Tunisia.
authors.forename: Asma
authors.initials: A
authors.lastname: Bouaziz
authors.affiliation: Service de pédiatrie, hôpital de Sfax, Sfax, Tunisia.
authors.forename: Abdelmajid
authors.initials: A
authors.lastname: Mahfoudh
authors.affiliation: Service de pédiatrie, hôpital de Sfax, Sfax, Tunisia.
authors.forename: Hajer
authors.initials: H
authors.lastname: Aloulou
authors.affiliation: Service de pédiatrie, hôpital de Sfax, Sfax, Tunisia.
authors.forename: Lamia Ben
authors.initials: LB
authors.lastname: Mansour
authors.affiliation: Service de pédiatrie, hôpital de Sfax, Sfax, Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Chabchoub
authors.affiliation: Service de pédiatrie, hôpital de Mehdia, Mehdia, Tunisa.
authors.forename: Raoudha
authors.initials: R
authors.lastname: Boussoffara
authors.affiliation: Service de pédiatrie, hôpital Sahloul de Sousse, Sousse, Tunisia.
authors.forename: Jalel
authors.initials: J
authors.lastname: Chemli
authors.affiliation: Service de pédiatrie, hôpital Farhat Hached de Sousse, Sousse, Tunisia.
authors.forename: Jihène
authors.initials: J
authors.lastname: Bouguila
authors.affiliation: Service de pédiatrie, hôpital Sahloul de Sousse, Sousse, Tunisia.
authors.forename: Saida
authors.initials: S
authors.lastname: Hassayoun
authors.affiliation: Service de pédiatrie, hôpital de Monastir, Monastir, Tunisia.
authors.forename: Saber
authors.initials: S
authors.lastname: Hammami
authors.affiliation: Service de pédiatrie, hôpital de Monastir, Monastir, Tunisia.
authors.forename: Zakia
authors.initials: Z
authors.lastname: Habboul
authors.affiliation: Service de pneumologie, hôpital l'Ariana de Tunis, Tunis, Tunisia.
authors.forename: Agnès
authors.initials: A
authors.lastname: Hamzaoui
authors.affiliation: Service de pneumologie, hôpital l'Ariana de Tunis, Tunis, Tunisia.
authors.forename: Jamel
authors.initials: J
authors.lastname: Ammar
authors.affiliation: Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia.|Laboratoire d'immunologie, Institut Pasteur de Tunis, Tunis, Tunisia.
authors.forename: Mohamed-Ridha
authors.initials: MR
authors.lastname: Barbouche
authors.affiliation: Service d'immuno hématologie pédiatriques, Centre National de Greffe de Moelle Osseuse de Tunis, 13 Rue du Djebel Lakhdhar, 1006, Tunis, Tunisia.|Faculté de medicine de Tunis, Université El Manar II, Tunis, Tunisia.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Bejaoui
mesh_terms: D017668:Age of Onset; D000906:Antibodies / Q000235:genetics / Q000378:metabolism*; D001402:B-Lymphocytes / Q000502:physiology*; D003165:Complement System Proteins / Q000235:genetics; D003241:Consanguinity; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000145:classification / Q000453:epidemiology* / Q000401:mortality; D007223:Infant; D008297:Male; D015995:Prevalence; D012042:Registries; D016019:Survival Analysis; D013601:T-Lymphocytes / Q000502:physiology*; D014416:Tunisia
chemical_list: D000906:Antibodies; D003165:Complement System Proteins
keywords: Primary immunodeficiencies; Tunisia; diagnosis; management; treatments