Primary immunodeficiencies : Report of 33 Pediatric Tunisian cases.

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Published Sep 7, 2016
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Vol. 94 No. 4 (2016): Issue Apr 2016

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Sonia Halioui-Louhaichi
Ons Azzabi
Nadia Mattoussi
Hasna Labiadh
Khadija Bousseta
Neji Tebib
Taher Gargah
Sayda Ben Becher
Mohamed Ridha Barbouch
Mohamed Bejaoui
Ahmed Maherzi

Abstract

abstract
Background: Primary immunodeficiencies (PID) are a group of heterogeneous and relatively rare diseases.
Aim : to determine the clinical characteristics, outcome and genetic data of primary immunodeficiencies in pediatrics patients.
Methods : A retrospective, descriptive and multicentered study, enrolling 33 children presenting a PID in Tunis, during a period of 22 years (1991-2012).
Resultats : a masculine predominance has been noticed with a sex ratio at 2,3. Consanguinity was found in 71% of family cases. History of early infant deaths was found in 42% of cases. The media age of diagnosis was of 1 year 2 months. The median diagnosis delay was of 11 months and 1/2. Most frenquently observed PID were combined immunodeficiency (36%), mostly severe combined immunodeficiency (SCID) (21%), followed by congenial defects of phagocyte function (33%), mostly chronic granulomatosis disease (21%). Antibody defects were found in 21% of cases. Most frequently observed out comes were lung infections (66%) recurrent oral thrush (57%) and diarrhea (42%). Most important complications were severe infections and bronchiectasis. 30% of patients were dead by the end of the study. A molecular characterization was performed in 33% of patients, and an antenatal diagnosis was performed in 10% of cases.
Conclusion : The PID are a group of disease with variable expressions and etiologies. Their frequency remains understimated in Tunisia, and their management, difficult and insufficient. We suggest the establishment of systematic genetic consulting visit, the creation of a national registry and developing bone marrow transplantation in children in Tunisia.

Keywords:

Primary immunodeficiencies , children, antenatal diagnosis, bone marrow transplantation.

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References

  1. Notarangelo LD, Fischer A, Raif Geha RS et al. Primary immunodeficiencies : 2009 update. International Union of Immunological Societies Expert Commitee on Primary Immunodeficiencies. J Allergy Clin Immunol 2009 ;124:1161-78.
  2. Samarghitean C, Vihinen M. Bioinformatics services related to diagnosis of primary immunodeficiencies. Curr Opinion Allergy Clin Immunol 2009 ;9:531-6.
  3. Barbouch MR, Galal N, Ben Mustapha I et al. Primary immunodeficiencies in highly consanguinious North African population. Ann NY Acad Sci 2001;1238:42-52.
  4. Bousfiha AA, Jeddani L, El Hafidi N et al. First Report on the Moroccan Registry of Primary Immunodeficiencies : 15 Years of Experience (1998-2012). J Clin Immunol 2014;34:459-68.
  5. Al Herz W. Primary immunodeficiency Disorders in kuwait : First report from kuwait National Primary Immunodeficiency Registry (2004-2006). J Clin Immunol 2008; 28 :186-93.
  6. Al-Herz W, Bousfiha A, Casanova JL et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodefiency. Front Immunol 2011;2:1-26.
  7. Mouthon L, Berezné A, Guillevin L, Lassouad K. Diagnostic des déficits immunitaires primitifs à l'âge adulte. Presse Med 2006;35:903-11.
  8. Bejaoui M, Barbouch MR, Sassi A et al. Les déficits immunitaires primitifs en Tunisie : étude de 152 cas. Arch Pediatr.1997;4:827-31.
  9. Gathmann B, Binder N, Ehl S, Kindle G. The European internet-based patient and research database for primary immunodeficiencies : update 2011. Clin Exp Immunol 2012;167:479-91.
  10. Leiva LE, Zelazco M, Oleastro M et al. Primary immunodeficiency diseases in Latin America : the second report of the LAGID Registry. J Clin Immunol 2007;27:101-8.
  11. Djidjik R, Messaoudani N, Tahiat A et al. Clinical, immunological and genetic features in eleven Algerian patients with major Histocompatibility complex class II expression deficiency. Allergy Asthma Clin Immunol [En ligne] 2012 Aout [04/03/2014];[5 pages]. Disponible à l'URL : http://www.aacijournal.com/content/8/1/14.
  12. Rezaei N, Aghamohammadi A, Moin M et al. Frequency and clinical manifestations of patients with primay immunodeficiency disorders in Iran : update from the Iranian Primary Immunodeficiency Registry. J Clin Immunol 2006;26:519-32.
  13. CEREDIH. The French national registry of primary immunodeficiency diseases. Clin Immunol 2010;135:264-72.
  14. Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency : a new paradigm is needed for the 21st century. Ann NY Acad Sci 2011;1238:7-14
  15. Costa-Carvalho BT, Grumach AS, Franco JL et al. Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice. J Clin Immunol 2014;34:10-22.
  16. Marks DJ, Miyagi K, Rahman FZ, Novelli M, Bloom SL, Segal AW. Inflammatory bowel disease in CGD repreoduces the clinicopathological features of Crohn's disease. Am J Gastroenterology 2009;104:117-24.
  17. Al-Muhsen SZ. Gastrointestinal and hepatic manifestations of primary immunodeficiency desaeases. Saudi J Gastroenterol 2010;16:66-74.
  18. Kotlarz D, Beier R, Murugan D et al. Loss of interleukin-10 signaling and infantile inflammatory bowel disease : implications for diagnosis and therapy. Gastroenterology 2012;143:347-55.
  19. Spencer SD, Di Marco F, Hooley J et al. The orphan receptor CRF2-4 is an essential subunit of the interleukin 10 receptor. J Exp Med.1998;187:571-8.
  20. De Vries E. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol 2012;167:108-19.
  21. Admou B, Haouach K, Ailal F, Benhasaine I, Barbouche MR, Bejaoui M. Déficits immunitaires primitifs : approche diagnostique pour les pays émergents. IBS 2010;25:257-65.
  22. Rhim JW, Kim KH, Kim BS et al. Prevalence of primary immunodeficiency in Korea. J Korean Med Sci.2012 ;27 :788-93.