medigraphic.com
SPANISH

Revista Cubana de Pediatría

ISSN 1561-3119 (Electronic)
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2021, Number 4

<< Back Next >>

Rev Cubana Pediatr 2021; 93 (4)

Combined primary immunodeficiency

Pérez CM, Rodríguez PM, Acosta TJR, Casado HI
Full text How to cite this article

Language: Spanish
References: 11
Page: 1.10
PDF size: 425.83 Kb.


Key words:

primary immunodeficiency, T cells, B cells, recurrent infections.

ABSTRACT

Introduction: Primary immunodeficiencies are genetic diseases. They are made up of more than 200 diseases that have recurrent infections in common. Combined immunodeficiency is characterized by recurrent episodes of sepsis of the respiratory, digestive and skin system, especially opportunistic germs. The clinical picture is highly variable and multiple clinical phenotypes are known.
Objective: Assess the clinical and immunological manifestations of non-severe combined primary immunodeficiency through a case.
Case presentation: 8-month-old male, white infant who presented multiple respiratory and digestive infections, milk intolerance, associated with recurrent wheezing and exanthematic manifestations. He had several hospitalizations even in the intensive care service due to severe sepsis and completed treatments with penicillins, cephalosporins, sulfas, phosphocin, vancomycin and metronidazole. The immunological study revealed a marked decrease in lymphocyte subpopulations and decreased concentrations of the IgG4 subclass. The diagnosis of primary immunodeficiency of the non-severe combined type was established. The treatment used included intravenous gamma globulin and transfer factor. An evident clinical improvement was confirmed.
Conclusions: The recurrent infections together with the results of the studies allowed to diagnose this primary immunodeficiency. Early diagnosis and timely treatment improve the patient's quality of life.


REFERENCES

  1. Yañeza L, Lamaa P, Rivacoba C, Zamoranoa J, Marinovica MA. Inmunodeficiencias primarias en niños gravemente enfermos: a propósito de 3 casos clínicos. Rev Chil Pediatr. 2017;88:1. DOI: http://dx.DOI.org/10.1016/j.rchipe.2016.07.011

  2. Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, et al. Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 2017 [acceso 07/05/2019];139:232. Disponible en: Disponible en: https://openaccess.bezmialem.edu.tr/bitstream/handle/20.500.12645/10396/PIIS0091674916306248.pdf?sequence=1

  3. Marciano BE, Holland SM. Primary Immunodeficiency Diseases: Current and Emerging Therapeutics. Front Immunol. 2017. DOI: 10.3389/fimmu.2017.00937

  4. Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, et al. International Consensus Document (ICON): Common Variable Immunodeficiency Disorders. J Allerg Clin Immunol Practice. 2016 [acceso 22/06/2017];4(1):38-59. Disponible en: Disponible en: https://www.jaci-inpractice.org/action/showPdf?pii=S2213-2198%2815%2900441-9

  5. Hernández MC, Espinosa RF, Espinosa PS, Hernández MA, Blancas GL. Conceptos básicos de las inmunodeficiencias primarias. Rev Alerg Méx. 2016 [acceso 03/03/2016];63:3. Disponible en: Disponible en: https://www.redalyc.org/pdf/4867/486755023009.pdf

  6. Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med. 2014 [acceso 04/05/2017];140:1177. Disponible en: Disponible en: https://www.nejm.org/DOI/full/10.1056/NEJMoa1401177

  7. Ponsford MJ, Klocperk A, Pulvirenti F, Dalm V, Milota T, Cinetto F, et al. IgE in the allergy clinic - when is it primary immunodeficiency? Allergy. 2018 [acceso 07/05/2019];73:2122-36. Disponible en: Disponible en: https://onlinelibrary.wiley.com/DOI/pdfdirect/10.1111/all.13578

  8. Azizi G, Abolhassani H, Asgardoon MH, Alinia T, Yazdani R, Mohammadi J, et al. Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management. Expert Rev Clin Immunol. 2017 [acceso 03/03/2017];13:2. Disponible en: Disponible en: https://www.tandfonline.com/DOI/abs/10.1080/1744666X.2016.1224664?journalCode=ierm20

  9. Tosato F, Bucciol G, Pantano G, Putti MC, Sanzari MC, Basso G, et al. Lymphocytes Subsets Reference Values in Childhood. Cytometry Part A 2015 [acceso 09/03/2015];81:5. Disponible en: Disponible en: https://onlinelibrary.wiley.com/DOI/pdfdirect/10.1002/cyto.a.22520

  10. Marasco C, Venturelli A, Rao L, Vacca A, Carratu M. Management of common variable immunodeficiency by subcutaneous IgG self-administration during pregnancy - a case report. Clin Case Rep. 2017 [acceso 11/05/2017];5:8. Disponible en: Disponible en: https://onlinelibrary.wiley.com/DOI/pdf/10.1002/ccr3.692

  11. Farmand S, Sundin M. Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care. Current Opin Hematol. 2015 [acceso 06/05/2016];22:1. Disponible en: Disponible en: https://journals.lww.com/co-hematology/Abstract/2015/01000/Hyper_IgE_syndromes__recent_advances_in.4.aspx




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Rev Cubana Pediatr. 2021;93