Inborn errors of immunity in inflammatory bowel disease patients

Authors

Keywords:

inflammatory bowel disease, inborn errors of immunity

Abstract

Introduction: Inborn errors of immunity are a group of inherited diseases with diverse clinical presentations consistent of inflammatory bowel disease.
Objective: To describe the behavior of inborn errors of immunity in inflammatory bowel disease patients in Sancti Spíritus during 2014-2023 period of time.
Methods: A descriptive, observational, cross-sectional study was conducted in Sancti Spíritus from January 2014 to December 2023 in adult patients diagnosed with inflammatory bowel disease seen in a provincial immunology clinic, taking into account inclusion and exclusion criteria. The variables that determined the objective were: sex, immunological study, family history of inborn errors of immunity, and age.
Results: Inborn errors of immunity were diagnosed in six patients, in a 3:3 ratio for both sexes. 100% of male diagnoses corresponded to predominant antibody deficiency, a group that predominated in the population. The mean age at diagnosis was 29 years, and only one (1.32%) had a family history of inborn errors of immunity.
Conclusions: The majority of patients diagnosed with inborn errors of immunity were in the group of predominant antibody deficiencies associated with Crohn's disease. All male patients had antibody deficiency, and the most prevalent ages for diagnosis of inborn errors of immunity were in the second and third decades of life.

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Author Biographies

Valia Concepción Ulloa, Provincial General Hospital "Camilo Cienfuegos", Sancti-Spíritus, Cuba

Specialist in Comprehensive General Medicine and in Immunology. Master's Degree in Emergency Medicine. Assistant Professor. Postgraduate Professor. Immunology Department

Ernesto Caraballosa Yero, Provincial General Hospital "Camilo Cienfuegos", Sancti-Spíritus, Cuba

First-level specialist in immunology. Master's degree in comprehensive child care. Assistant professor. Immunology Department

Haydelisis Peraza González, Provincial General Hospital "Camilo Cienfuegos", Sancti-Spíritus, Cuba

Gastroenterology Specialist, Grade 1 and 2. Master's Degree in Satisfactory Longevity. Assistant Professor. Gastroenterology Department

María del Carmen Chávez Alfonso, Provincial General Hospital "Camilo Cienfuegos", Sancti-Spíritus, Cuba

Specialist in Comprehensive General Medicine and in Immunology. Master's degree in infectious diseases. Assistant professor. Principal undergraduate professor. Immunology Department

Yudania Reyes Cepero, Provincial General Hospital "Camilo Cienfuegos", Sancti-Spíritus, Cuba

Bachelor's degree in Biology. Master's degree in Infectious Diseases. Assistant Professor. Immunology Department

Yralys Naranjo Herrera, Provincial General Hospital "Camilo Cienfuegos", Sancti-Spíritus, Cuba

Specialist in Comprehensive General Medicine with a first-degree degree in Immunology. Master's degree in comprehensive child care. Assistant professor. Immunology Department

References

1. Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol [Internet]. 2020 [citado 20/01/2023]; 40(1): [aprox. 3p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/32048120/

https://doi.org/10.1007/s10875-020-00758-x

2. Velásquez-Ortiz María Guadalupe, O’Farrill-Romanillos Patricia María, Berrón-Ruiz Laura. Conceptos generales de las inmunodeficiencias humorales. Rev alerg Méx [Internet]. 2020 [citado 20/01/2023]; 67(2): [aprox. 3p.]. Disponible en: https://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S2448-91902020000200142&lng=es.

3. Taskin, RB, Topyıldız E, Edeer Karaca, N, Aksu G, Yılmaz Karapınar D, Kutukculer, N. Autoimmune Cytopenias Are Highly Associated with Inborn Errors of Immunity and They May Be the Initial Presentations in Cases without Severe Infections. International archives of allergy and immunology [Internet]. 2024 [citado 20/01/2023]; 185(4): [aprox. 4p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/38154455/

https://doi.org/10.1159/000535258

4. Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol [Internet]. 2022 [citado 20/01/2023]; 42(7): [aprox. 6p.].Disponible en: https://pubmed.ncbi.nlm.nih.gov/35748970/

https://doi.org/10.1007/s10875-022-01289-3

5. IJspeert H, Edwards ES, O’Hehir RE, Dalm VA, Van Zelm MC. Update on inborn errors of immunity. J Allergy Clin Immunol [Internet]. 2025 [citado 02//04/2025]; 155(3): [aprox. 3p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/39724969/

https://doi.org/10.1016/j.jaci.2024.12.1075

6. Malik A, Stringer E, Warner N, van Limbergen J, Vandersteen A, Muise A, et al. Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity. Pediatrics [Internet]. 2021 [citado 20/01/2023]; 148(5): [aprox. 4p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/34686572/

https://doi.org/10.1542/peds.2021-050614

7. Sasahara Y, Uchida T, Suzuki T, Abukawa D. (2022). Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia. Front Immunol [Internet]. 2022 [citado 20/01/2023]; 12: [aprox. 2p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/35095863/

https://doi.org/10.3389/fimmu.2021.786538

8. Hall CHT, de Zoeten EF. Understanding very early onset inflammatory bowel disease (VEOIBD) in relation to inborn errors of immunity. Immunol Rev [Internet]. 2024 [citado 20/01/2023]; 322(1): [aprox. 4p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/38115672/

https://doi.org/10.1111/imr.13302

9. Both T, Dalm VASH, Richardson SA, van Schie N, van den Broek LM, de Vries AC, et al. Inflammatory bowel disease in primary immunodeficiency disorders is a heterogeneous clinical entity requiring an individualized treatment strategy: A systematic review. Autoimmun Rev [Internet]. 2021 [citado 20/01/2023]; 20(8): [aprox. 3p.]. Disponible en : https://pubmed.ncbi.nlm.nih.gov/34118459/

https://doi.org/10.1016/j.autrev.2021.102872

10. Deng M, Mao H. Inborn errors of immunity in mainland China: the past, present and future. BMJ Paediatrics Open [Internet]. 2023 [citado 20/01/2023]; 7(1):e002002. Disponible en : https://pmc.ncbi.nlm.nih.gov/articles/PMC10357751/

https://doi.org/10.1136/bmjpo-2023-002002

11. Vosughimotlagh A, Rasouli SE, Rafiemanesh H, Safarirad M, Sharifinejad N, Madanipour A, et al. Manifestaciones clínicas de la deficiencia de inmunoglobulina A: una revisión sistemática y metanálisis. Alergia Asma Clin Immunol [Internet]. 2023 [citado 20/01/2023]; 19(1): [aprox. 3p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/37641141/

https://doi.org/10.1186/s13223-023-00826-y

12. Malesza IJ, Malesza M, Krela-Kaźmierczak I, Zielińska A, Souto EB, Dobrowolska A, et al. Primary Humoral Immune Deficiencies: Overlooked Mimickers of Chronic Immune-Mediated Gastrointestinal Diseases in Adults. Int J Mol Sci [Internet]. 2020 [citado 20/01/2023]; 21(15):[aprox. 2p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/32718006/

https://doi.org/10.3390/ijms21155223

13. Pérez-Acevedo LC, González-Costa M, Addine-Ramírez MC, Miló-Valdés CA, Marrón-González R. Inmunodeficiencias primarias por déficit de IgA. Heterogeneidad clínica y reto diagnóstico. Rev Ciencias Médicas [Internet]. 2023 [citado 20/01/2023]; 27: e6004. Disponible en:

https://revcmpinar.sld.cu/index.php/publicaciones/article/view/6004

14. Wang JJF, Dhir A, Hildebrand KJ, Turvey SE, Schellenberg R, Chen LYC, et al. Inborn errors of immunity in adulthood. Allergy Asthma Clin Immunol [Internet]. 2024 [citado 20/01/2023]; 20(1): [aprox. 3p.]. Disponible en: https://aacijournal.biomedcentral.com/articles/10.1186/s13223-023-00862-8

https://doi.org/10.1186/s13223-023-00862-8

15. Fernandes-Pineda M, Matta-Cortés L, Zea-Vera A. Errores innatos de la inmunidad: Enfermedades de niños y adultos. Caracterización de pacientes de la consulta externa de inmunología clínica durante seis años de seguimiento. Acta Med Col [Internet]. 2023 [citado 12/09/2024]; 49(1). Disponible en: https://www.actamedicacolombiana.com/ojs/index.php/actamed/article/view/3092

https://doi.org/10.36104/amc.2024.3092

16. Dasanayake D, Bustamante J, Boisson-Dupuis S, Karunatilleke C, Thambyrajah J, Puel A, et al. Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022. Journal of clinical immunology. J Clin Inmunol [Internet]. 2023 [citado 12/09/2024]; 43(8): [aprox. 4p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/37480474/

https://doi.org/10.1007/s10875-023-01542-3

17. González-Costa M, Addine Ramírez BC, Pérez Acevedo LC, Viamonte Piña V, Figueredo Santos O, Marrón González R. Enfermedades autoinmunes asociadas a inmunodeficiencias primarias. Rev Cubana Hematol Inmunol Hemoter [Internet]. 2023 [citado 18/10/2024]; 39. Disponible en: https://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-02892023000100004&lng=es.

18. Ortega-Franco IE, Zavaleta-Martínez Ó, Martin-De Saro M, Blancas GL, Espinosa PSE. Registro de inmunodeficiencias primarias del Hospital Materno Infantil del Estado de México. Alergia Asma Inmunol Pediatr [Internet]. 2023 [citado 18/10/2024]; 32(1-3): [aprox. 3p.]. Disponible en: https://www.medigraphic.com/cgi-bin/new/resumen.cgi?IDARTICULO=115242

https://dx.doi.org/10.35366/115242

19. Aghamohammadi A, Rezaei N, Yazdani R, Delavari S, Kutukculer N, Topyildiz E, et al. Consensus Middle East and North Africa Registry on Inborn Errors of Immunity. J Clin Immunol [Internet]. 2021 [citado 18/10/2024]; 41(6): [aprox. 3p.]. Disponible en: https://pmc.ncbi.nlm.nih.gov/articles/PMC8310844/

https://doi.org/10.1007/s10875-021-01053-z

20. Geng B, Ding X, Li X, Hu L, Zhao W, Gong H, et al. Los subgrupos de linfocitos T de sangre periférica son posibles biomarcadores de la gravedad de la enfermedad y los resultados clínicos en pacientes con colitis ulcerosa: un estudio retrospectivo. BMC Gastroenterol [Internet]. 2023 [citado 24/08/2024 agosto]; 136(2023). Disponible en: https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-023-02769-5#citeas

https://doi.org/10.1186/s12876-023-02769-5

21. Koutroumpakis F, Phillips AE, Yadav D, Machicado JD, Ahsan M, Ramos Rivers C, et al. Serum IgG4 Subclass Deficiency Defines a Distinct, Commonly Encountered, Severe Inflammatory Bowel Disease Subtype. Inflamm Bowel Dis [Internet]. 2021 [citado 24/08/2024]; 27(6): [aprox. 3p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/32879976/

https://doi.org/10.1093/ibd/izaa230

22. Berrón-Ruiz L. Enfermedades autoimunitarias en pacientes con inmunodeficiencia común variable. Rev Alerg Mex [Internet]. 2021 [citado 24/08/2024]; 6(1):[aprox. 2p.]. Disponible en: https://www.scielo.org.mx/pdf/ram/v68n1/2448-9190-ram-68-01-48.pdf

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Published

2025-04-15

How to Cite

1.
Concepción Ulloa V, Caraballosa Yero E, Peraza González H, Chávez Alfonso M del C, Reyes Cepero Y, Naranjo Herrera Y. Inborn errors of immunity in inflammatory bowel disease patients. Acta Méd Centro [Internet]. 2025 Apr. 15 [cited 2025 Jul. 1];19(1):e2079. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/e2079

Issue

Vol. 19 (2025): PUBLICACIÓN CONTINUA

Section

Original Articles

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