Skip to main content

Advertisement

SpringerLink
Log in

Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Molecular Profile

  • Original Research
  • Published:
Journal of Clinical Immunology Aims and scope Submit manuscript

Abstract

Major Histocompatibility Complex (MHC) class II deficiency is a combined primary immunodeficiency disease that leads to overwhelming and recurrent infections. It was found to account for 19 % of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular features of 11 Kuwaiti patients who presented with MHC class II deficiency between 2004 and 2011.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Ting JP, Trowsdale J. Genetic control of MHC class II expression. Cell 2002;109(Suppl:S21-33). Epub 2002/05/02.

  2. Nekrep N, Fontes JD, Geyer M, Peterlin BM. When the lymphocyte loses its clothes. Immunity. 2003;18(4):453–7. Epub 2003/04/23.

    Article  PubMed  CAS  Google Scholar 

  3. Picard C, Fischer A. Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency. Immunol Allergy Clin North Am. 2010;30(2):173–8. Epub 2010/05/25.

    Article  PubMed  Google Scholar 

  4. Matheux F. Cellular and gene therapy for major histocompatibility complex class II deficiency. News Physiol Sci. 2004;19(3):154–8.

    PubMed  CAS  Google Scholar 

  5. Reith W, Fischer A. Molecular basis of major histocompatibility complex class II deficiency. In: Ochs HD SC, Puck JM, editors. Primary immunodeficiency diseases. New York: Oxford University Press; 2007. p. 227–41.

    Google Scholar 

  6. Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, et al. Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Blood. 2011;118(19):5108–18. Epub 2011/09/13.

    Article  PubMed  CAS  Google Scholar 

  7. Al-Mousa H, Al-Shammari Z, Al-Ghonaium A, Al-Dhekri H, Al-Muhsen S, Al-Saud B, et al. Allogeneic stem cell transplantation using myeloablative and reduced-intensity conditioning in patients with major histocompatibility complex class II deficiency. Biol Blood Marrow Transplant: J Am Soc Blood Marrow Transplant. 2010;16(6):818–23. Epub 2010/01/19.

    Article  Google Scholar 

  8. Al-Herz W, Ragupathy R, Massaad MJ, Al-Attiyah R, Nanda A, Engelhardt KR, et al. Clinical, immunologic and genetic profiles of DOCK8- deficient patients in Kuwait. Clin Immunol. 2012;143(3):266–72.

    Article  PubMed  CAS  Google Scholar 

  9. Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol. 2003;112(5):973–80. Epub 2003/11/12.

    Article  PubMed  Google Scholar 

  10. Ward AM. PRU handbook of clinical immunochemistry. 8th ed. Sheffield: PRU Publication; 2004.

    Google Scholar 

  11. Al-Herz W, Naguib KK, Notarangelo LD, Geha RS, Alwadaani A. Parental consanguinity and the risk of primary immunodeficiency disorders: report from the Kuwait National Primary Immunodeficiency Disorders Registry. Int Arch Allergy Immunol. 2011;154(1):76–80. Epub 2010/07/29.

    Article  PubMed  Google Scholar 

  12. Naamane H, El Maataoui O, Ailal F, Barakat A, Bennani S, Najib J, et al. The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. Eur J Pediatr. 2010;169(9):1069–74. Epub 2010/04/24.

    Article  PubMed  CAS  Google Scholar 

  13. Saleem MA, Arkwright PD, Davies EG, Cant AJ, Veys PA. Clinical course of patients with major histocompatibility complex class II deficiency. Arch Dis Child. 2000;83(4):356–9. Epub 2000/09/22.

    Article  PubMed  CAS  Google Scholar 

  14. Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol. 2010;126(3):602–10. e1-11. Epub 2010/08/03.

    Article  PubMed  Google Scholar 

  15. Renella R, Picard C, Neven B, Ouachee-Chardin M, Casanova JL, Le Deist F, et al. Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infections. Br J Haematol. 2006;134(5):510–6. Epub 2006/07/20.

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

We thank the patients and their families for their participation in this study. We are grateful to all health care providers who helped in managing these patients. We also thank Dr. Jean Villard from Geneva University Hospital for his support. Special thanks to all personnel working at the Immunology Laboratory, Department of Microbiology, Faculty of Medicine in Kuwait for their participation in the diagnosis of the patients. We also thank the Dasman Diabetes Institute in Kuwait for their support in doing the mutation analysis. Mike Recher was supported by the Swiss National Science Foundation (Grant Nr.:PASMP3-127678). The project was supported by a grant from the Kuwait Foundation for Advancement of Sciences (2010-1302-05).

Author information

Authors and Affiliations

  1. Department of Pediatrics, Faculty of Medicine, Kuwait University, 24923 Safat, 13110, Kuwait, Kuwait

    Waleed Al-Herz

  2. Allergy & Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Kuwait, Kuwait

    Waleed Al-Herz

  3. Dasman Genome Centre, Dasman Diabetes Institute, Kuwait, Kuwait

    Osama Alsmadi & Motasem Melhem

  4. Division of Immunology and The Manton Center for Orphan Disease Research, Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Mike Recher, Francesco Frugoni & Luigi D. Notarangelo

Authors
  1. Waleed Al-Herz
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Osama Alsmadi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Motasem Melhem
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Mike Recher
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Francesco Frugoni
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Luigi D. Notarangelo
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Waleed Al-Herz.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Al-Herz, W., Alsmadi, O., Melhem, M. et al. Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Molecular Profile. J Clin Immunol 33, 513–519 (2013). https://doi.org/10.1007/s10875-012-9831-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10875-012-9831-8

Keywords

Search

Navigation