Journal of Clinical Immunology

, Volume 33, Issue 4, pp 865–870

Clinical, Immunological and Genetic Findings of a Large Tunisian Series of Major Histocompatibility Complex Class II Deficiency Patients

  • Imen Ben-Mustapha
  • Khaoula Ben-Farhat
  • Naouel Guirat-Dhouib
  • Emna Dhemaied
  • Beya Larguèche
  • Meriem Ben-Ali
  • Jalel Chemli
  • Jihène Bouguila
  • Lamia Ben-Mansour
  • Fethi Mellouli
  • Monia Khemiri
  • Mohamed Béjaoui
  • Mohamed-Ridha Barbouche
Brief Communication

DOI: 10.1007/s10875-013-9863-8

Cite this article as:
Ben-Mustapha, I., Ben-Farhat, K., Guirat-Dhouib, N. et al. J Clin Immunol (2013) 33: 865. doi:10.1007/s10875-013-9863-8

Abstract

Introduction

Major histocompatibility complex class II (MHC-II) expression deficiency is a combined primary immunodeficiency leading to the impairment of the cellular and humoral immune responses. A majority of affected patients belong to consanguineous families particularly from the Maghreb, where a founder effect for a highly frequent mutation (named c.338-25_338del26) in the RFXANK gene was reported. Herein, we report the largest single Maghrebian country series of MHC-II deficient patients.

Patients and Methods

In Tunisia, among 551 PIDs diagnosed from 1993 to 2011, 54 had an MHC-II deficiency. The clinical features and immunological investigations were retrospectively analyzed in 34 children of them belonging to 28 kindred. The genetic study included the c.338-25_338del26 screening by the amplification of the affected region using polymerase chain reaction (PCR) followed by direct sequencing.

Results

Consanguinity was present in 22 out of 28 families. Mean age at the first infection was 6.1 months. Chronic diarrhea with failure to thrive and pulmonary infections were the most common manifestations occurring in 26 and 28 patients respectively. The most specific laboratory findings were the defect of MHC-II (HLA-DR) expression in all patients. The c.338-25_338del26 mutation was identified in 25 of them.

Conclusion

In Maghrebian settings, pediatricians should definitely consider this diagnosis in the presence of an early onset of severe and recurrent infections of the respiratory and intestinal tracts, particularly protracted diarrhea with a failure to thrive. The founder effect for the c.338-25_338del26 mutation in the RFXANK gene is also confirmed, facilitating prenatal diagnosis as a preventive approach in the Tunisian affected families with severe forms, particularly in the context of limited access to bone marrow transplantation.

Keywords

MHC-II deficiency primary immunodeficiency disease RFXANK gene Tunisia 

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Imen Ben-Mustapha
    • 1
  • Khaoula Ben-Farhat
    • 2
  • Naouel Guirat-Dhouib
    • 3
  • Emna Dhemaied
    • 4
  • Beya Larguèche
    • 4
  • Meriem Ben-Ali
    • 2
  • Jalel Chemli
    • 5
  • Jihène Bouguila
    • 5
  • Lamia Ben-Mansour
    • 6
  • Fethi Mellouli
    • 3
  • Monia Khemiri
    • 7
  • Mohamed Béjaoui
    • 3
  • Mohamed-Ridha Barbouche
    • 1
  1. 1.Laboratoire de cyto-immunologie, LR11IPT02Institut Pasteur de TunisTunisTunisia
  2. 2.LR11IPT02Institut Pasteur de TunisTunisTunisia
  3. 3.Centre National de Greffe de Moelle OsseuseTunisTunisia
  4. 4.Laboratoire de cyto-immunologieInstitut Pasteur de TunisTunisTunisia
  5. 5.Service de PédiatrieCHU SahloulSousseTunisia
  6. 6.Service de pédiatrieCHU Hédi ChakerSfaxTunisia
  7. 7.Service de PédiatrieHôpital d’EnfantsTunisTunisia

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