Primary immunodeficiency: modern approaches to diagnosis and therapy

Первичные иммунодефициты: современные подходы в диагностике и терапии
Dinara Gabdullina 1, Oksana Ussenova 1, Marina Morenka 1, Yelena Kovzel 2
More Detail
1 Astana Medical University, Department of children’s diseases №1, Astana, Kazakhstan
2 Republican Diagnostic Center, Department of Allergology, pulmonology and orphan diseases, Astana, Kazakhstan
J CLIN MED KAZ, Volume 1, Issue 39, pp. 12-15. https://doi.org/10.23950/1812-2892-2016-1-12-15
OPEN ACCESS 4338 Views 3571 Downloads
Download Full Text (PDF)

ABSTRACT

By definition, primary immunodeficiencies (PID) are a large group of severe, genetically determined diseases, the cause of which is the violation of the cascade of the immune response of the body. A WHO scientific group to date have identified about 250 nosological forms of the PID, the International Union of Immunological societies (International Societies Union of Immunological) recognized the relationship of primary immunodeficiency with more than 270 genes; we identified over 4500 mutations. Data of the International Foundation for primary immunodeficiency (Account Modell Fondation) indicate that, on Earth at least 10 million people suffer from some form of PID. If we compare the data of the European indices with the number of inhabitants of the Republic of Kazakhstan, currently in our country should be at least 3000 patients with a congenital defect of the immune system, thus, by 2015, was registered in 34 patients with PID. The clinical picture of PID has different forms of manifestation, the main syndromes are: infectious, neoplastic, allergic and autoimmune syndromes. Strategy in the treatment of PID depends mainly on the nature of the gene defect and suggests maintenance therapy (substitution therapy with immunoglobulins) and causal treatment (bone marrow transplantation/hematopoietic stem cells, gene therapy).
Keywords: primary immunodeficiencies, genetic diseases

CITATION

Gabdullina D, Ussenova O, Morenka M, Kovzel Y. Primary immunodeficiency: modern approaches to diagnosis and therapy. Journal of Clinical Medicine of Kazakhstan. 2016;1(39):12-5. https://doi.org/10.23950/1812-2892-2016-1-12-15

REFERENCES

  • Tuzakina I.A. K voprosu diagnostiki immunopatologii (On the question of diagnostic immunopathology), Medicinskaja immunologija, 2010, Vol. 12, No. 6, pp. 485-496 (in Russian).
  • ChurinaM.A., Ostankova Y.V., Semenov A.V., Guseva M.N., Totoljan A.A. Molekulyarno-geneticheskaja diagnostika (Molecular-genetic theory), Medicinskaja immunologija, 2015, Vol. 17, P. 240 (in Russian).
  • TuzakinaI.A., Karakina M.L., Vlasova E.V. Analiz klinicheskih projavlenii debjutapervichnyh immunodeficitov u vzroslyh (Analysis of clinical manifestations of primary immunodeficiencies debut in adults), Medicinskaja immunologija, 2014,Vol. 16, No. 4,pp. 367-374 (in Russian).
  • Luncov A.V., Skorohodkina O.V., Nurhametova D.F. Infekcionnyi sindrom u bolnyh spervichnymi immunodeficitamii vozmozhnosti ego korekcii (Infectious syndrome in patients with primary immunodeficiencies and possibilities of its correction), Prakticheskaja medicina, 2015,Vol. 2, No. 4,pp. 72-75 (in Russian).
  • Otarbaev N.K., Kovzel E.F. Pervichnye immunodeficity (Primary immunodeficiencies), Metodicheskie recomendacii, 2014, pp. 5-15 (in Russia).
  • LuechaO. Primary Immunodeficiency Diseases; A 20 Years Experience in a Tertiary University Hospital at Ramathibodi, J Allergy ClinImmunol, 2012, Vol. 129, No. 2, P. 158.
  • KapustinaA.S. Klinicheskie proyavleniya, Immunologicheskie osobennosti i effektivnost terapii pervichnyh immunodeficitov u vzroslyh (Clinical manifestations, immunological characteristics and the effectiveness of treatment of primary immunodeficiency in adults),dis. kand. med. nauk, 2011,pp.2-5 (in Russia).
  • Kolhir P.V. Dokazatelnaya allergologiya-immunologiya (Evidence allergist-immunologist), Practicheskaya medicina, 2010,pp.477-500 (in Russia).
  • Moiseeva T.N. Pervichnue immunodeficity. Rezultaty prospectivnogo nablyudeniya (Primary immunodeficiencies. Results of prospective study), avtoref. dis. kand. med. nauk, 2009,pp.2-4 (in Russia).
  • DeVryz E. Mnogostupenchatyi diagnosticheski i protocol skriniga pacientov nanalichie pervichnogo immunodeficita, razrabotanny j dlja vrachej-neimmunologov (Multistage diagnostic protocol screening patients for the presence of primary immunodeficiency, designed for doctorsnot an immunologist), Medicinskaja immunologija, 2013, Vol. 15, No. 5,pp. 477-492 (in Russia).
  • Wehr C. et al. Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency. JAllergyClinImmunol, 2015, Vol. 135, No. 4, pp. 988-997.
  • Bocharova K.A. Podhody k vedeniju bolnyh s pervichnymi immunodeficitnymi sostojanijami (Approaches to the management of patients with primary immunodeficiency), Nauchnyevedomosti. Serijamedicina. Farmacija, 2011,Vol. 13, No. 4,pp. 203- 207 (in Russia).
  • Modell V., GeeB., Lewis D.B., Orange J.S., Roifman C.M., Routes J.M., etal. Global study of primary immunodeficiency diseases (PI)-diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res., 2011, Vol. 51, No.1, pp. 61–70.
  • 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 Immunodeficiency. Front Immunol., 2014.Vol. 5, P. 162.
  • Cunningham-Rundles. Key aspects for successful immunoglobulin therapy of primary immunodeficiencies. Clinical and Experimental Immunology, 2011, Vol.164, No. 2, pp. 16–19.
  • Hernandez-Trujillo V. etal. Validity of Primary Immunodeficiency Disease Diagnoses in United States Medicaid Data. J ClinImmunol, 2015, Vol.35,pp. 566-572.
  • Lankisch P.et al. The Duesseldorf Warning Signs for Primary Immunodeficiency: Is it Time to Change the Rules? J ClinImmunol, 2015, Vol.35, No.3,pp. 273-279.
  • Lehman H., Hernandez-Trujillo V., Ballow M. Diagnosing Primary Immunodeficiency: A Practical Approach for the Nonimmunologist, Curr MedRes Opin,2015, Vol. 31, No. 4,pp.697-706.
  • Ljubimova N.E., Ostankova Ju.V., Semenov A.V., Gordukova M.V., Korsunskij I.A., Filipenko M.L., Totoljan A.A. Opredelenie znachenij normy trecikrecvperefericheskoj krovi novorozhdennyh (Determination of rules of track and crack in the peripheral blood of newborns),Medicinskaja immunologija,2015,Vol. 17,pp. 238-239 (in Russia).
  • Guseva M.N., Semenov A.V., Totoljan A.A. Opredelenie kolichestvennogo soderzhanija trecikrecvperefericheskoj krovi bolnyh Х-sceplennoja gammaglobulinemij (Quantification oftrec and krec blood in patients with X-linked agammaglobulinemia), Medicinskaja immunologija,2015,Vol. 17,pp. 234-235 (in Russia).
  • Farinelli G., Capo V., Scaramuzza S., Aiuti A.Lentiviral vectors for the treatment of primary immunodeficiencies, J Inherit Metab Dis, 2014, Vol.37, No. 4,pp. 525-533. 
  • EspanolT.,Prevot J., Drabwell J., Sondhi S., Olding L. Improving current immunoglobulin therapy for patients with primary immunodeficiency: quality of life and views on treatment. Patient Prefer Adherence, 2014, Vol.8, pp. 621–629.
  • Rezaei N., Hedayat M., Aghamohammadi A., Nichols K.E. Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies,J Allergy ClinImmunol,2011, Vol. 127, No. 13. pp. 29-41.
  • Notarangelo L.D. Primary immunodeficiencies. J Allergy ClinImmunol, 2010, Vol. 125, No. 2 (suppl 2), pp. 182-94.
  • Buckley R.H. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res, 2011, Vol.49, pp. 25-43.
  • Kobrynski L., Powell R.W., Bowen S. Prevalence and morbidity of primary immunodeficiency diseases, United States 2001– 2007,J ClinImmunol,2014, Vol. 34, No. 8, pp. 954–61.
  • Bousfiha A.A., Jeddane L., Ailal F., Benhsaien I., Mahlaoui N., Casanova J.L., et al. Primary immunodeficiency diseases worldwide: more common than generally thought,J ClinImmunol,2013, Vol. 33, No. 1,pp. 1–7.
  • Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century,Ann N YAcadSci,2011, Vol.123, No. 8. pp. 7–14.
  • Gathmann B, Grimbacher B, Beaute J, Dudoit Y, Mahlaoui N, Fischer A, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2006–2008, ClinExpImmunol, 2009, Vol. 157 (Suppl 1), pp. 3–11.