medigraphic.com
ISSN 1561-2996 (Electronic)
ISSN 0864-0289 (Print)

2022, Number 1

<< Back Next >>

Rev Cubana Hematol Inmunol Hemoter 2022; 38 (1)

Severe Combined Immunodeficiency: Case presentation

Burón HJS, Insua AC

Language: Spanish
References: 12
Page: 1-11
PDF size: 308.94 Kb.


ABSTRACT

Introduction: Primary Immunodeficiencies are a heterogeneous group of inherited disorders caused by defects in development or function of the immune system. Severe Combined Immunodeficiencies constitute 15% of the primary immunodeficiencies, they are acute and patients rarely survive without treatment after the first year of life, requiring a quick diagnosis and treatment.
Objective: To present a case on Severe Combined Immunodeficiency, a condition infrequently reported and with unfavorable evolution.
Case presentation: Six-month-old male infant with a history of four admissions to the Intensive Care Unit due to infections, in the latter one due to bilateral bronchopneumonia. He was evaluated by Immunology and a Severe Combined Immunodeficiency was diagnosed by the clinic (infections by opportunistic germs: Candida albicans and Pneumocistys jirovecii) and immunological studies (with a decrease in IgG antibodies: 0.02 g/L, IgM: 0.1 g/L and IgA: 0 g/L), decreased lymphocyte subpopulations (CD3/CD4: 9.3%, CD3/CD8: 5.6%, CD19: 0%, CD 16: 0.73%), in addition to severe thymic hypoplasia (120 mm2). Treatment with broad spectrum antimicrobials and immunostimulants (Hebertrans and Biomodulin T) was started. He evolved unfavorably and died of septic shock.
Conclusions: Severe Combined Immunodeficiency is a pediatric emergency that must be taken into account in patients with a history of recurrent infections, it is vital to know the early clinical manifestations that allow a suspected diagnosis, making use of all the available tools for its confirmation. Early diagnosis is the key element in reducing morbidity and mortality related to these diseases.


REFERENCES

  1. Seoane Reula ME, de Arriba Méndez S. Diagnóstico y manejo de las inmunodeficiencias primarias en niños. Protoc diagn ter pediatr [Internet]. 2019 [acceso 27/03/2021];2:415-35. Disponible en: https://www.aeped.es/sites/default/files/documentos/28_imunodeficiencias_primarias.pdf

  2. Macías Abraham C. Una mirada al diagnóstico y tratamiento de las inmunodeficiencias primarias en Cuba. Rev Cubana Hematol Inmunol Hemoter [Internet]. 2019 [acceso 27/03/2021];35(4):[aprox. 0 p.]. Disponible en: http://www.revhematologia.sld.cu/index.php/hih/article/view/1178

  3. Abolhassani H, Azizi G, Sharifi L, Yazdani R, Mohsenzadegan M, Delavari S, et al. Global systematic review of primary immunodeficiency registries. Expert Rev Clin Immunol. 2020 Jul; 16(7):717-32. DOI: https://10.1080/1744666X.2020.1801422

  4. McCusker C, Upton J, Warrington R. Primary immunodeficiency. Allergy Asthma Clin Immunol. 2018 Sep 12;14(Suppl 2):61. DOI: https://10.1186/s13223-018-0290-5

  5. Alonso Valle A, Candelaria Gómez B, Valdés Lanza L. Inmunodeficiencias primarias: un reto para la inmunogenética. Rev Cuba Reumatol [Internet]. 2020 Ago [acceso 27/03/2021];22(2):e828. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1817-59962020000200009

  6. Murguía Pérez JG, Pérez-Gaxiola G. Inmunode?ciencia combinada grave: informe de caso. Alergia Inmunol Pediatr. [Internet]. 2020 [acceso 27/03/2021];29(1):37-41. Disponible en: https://www.medigraphic.com/pdfs/alergia/al-2020/al201e.pdf

  7. Fallah S, Mesdaghi M, Mansouri M, Babaie D, Karimi A, Fahimzad S, et al. Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital. Iranian J Allergy Asthma Immunol. [Internet]. 2018 [acceso 27/03/2021];17(2):201-7. Disponible en: https://ijaai.tums.ac.ir/index.php/ijaai/article/view/1457

  8. Pérez LC, Corredera R, Prado OA, Addine BDC, Marrón R. Evolución ecosonográfica e inmunológica en un caso de hipoplasia tímica severa. Introducción de variaciones terapéuticas. 16 de Abril [Internet]. 2017 [acceso 27/03/2021];56(266):170-4. Disponible en: https://www.medigraphic.com/pdfs/abril/abr-2017/abr17266g.pdf

  9. Sánchez Segura M, Marsán Suárez V, Macías Abraham C, Pino Blanco D, Socarrás Ferrer BB, del Valle Pérez LO, et al. Agammaglobulinemia ligada al x o de bruton. Rev Cubana Hematol Inmunol Hemoter [Internet].2014 Dic [acceso 25/03/2021];30(4):395-404. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-02892014000400011&lng=es.

  10. Rozmus J, Junker A, Thibodeau ML, Grenier D, Turvey SE, Yacoub W, et al. Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study. J Clin Immunol. 2013;33(8):1310-16. DOI: https://10.1007/s10875-013-9952-8

  11. Speckmann C, Uhlmann A, Doerken S , Wolkewitz M, Pohl A, Ehl S. A prospective outcome study of patients with profound combined immunodeficiency (P-CID). LymphoSign Journal [Internet]. 2015 [acceso 25/03/2021];2(2). Disponible en: https://lymphosign.com/doi/full/10.14785/lpsn-2015-0002

  12. Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, et al. Clinical, Immunological, and Molecular Findings in 57 Patients with Severe Combined Immunodeficiency (SCID) From India. Front Immunol. 2019 Feb 4;10:23. DOI: https://10.3389/fimmu.2019.00023




2020     |     www.medigraphic.com