Selective Immunoglobulins deficiency in relatives antibody deficiency patient

Authors

Keywords:

selective IgA deficiency, first-degree relatives

Abstract

Introduction: one of the most common inborn errors of immunity is selective IgA deficiency.
Objetive:
determine the prevalence of selective IgA deficiency   in first-degree relatives of patients diagnosed with this immunological deficiency included in the registry of inborn errors of immunity in Sancti Spiritus province until 2023 year.
Methods
: a cross-sectional descriptive study was carried out in Sancti Spiritus province from July 1st,2020 to December 31st, 2023.The population was made up of 36 first-degree relatives of the 15 patients with selective IgA deficiency diagnosed, included in the Provincial Registry of inborn errors of immunity. The three relatives with serum IgA dosage below normal values for their range of age were respondents.
Results:
decreased IgA and IgG values were found only in some first-degree relatives and all showed IgM and CD3+CD4+T lymphocyte numbers within normal parameters. Female patients, adults and the mother as a predominated relative, most of them being asymptomatic.
Conclusions:
In a fifth part of the families with selective IgA deficiency patient studied, new cases with this immunological deficiency appeared. Asymptomatic disease was the most frequent phenotype.

Downloads

Download data is not yet available.

Author Biographies

Yralys Naranjo Herrera, Camilo Cienfuegos Provincial General Hospital Sancti Spiritus, Cuba

Specialist in Second Degree in Comprehensive General Medicine and First Degree in Immunology. Assistant Professor Master in Comprehensive Child Care

María del Carmen Chávez Alfonso, Camilo Cienfuegos Provincial General Hospital Sancti Spiritus, Cuba

Specialist in General Medicine, 1st Degree and in Immunology, 2nd Degree. Assistant Professor Master in infectious diseases

Valia Concepción Ulloa, Camilo Cienfuegos Provincial General Hospital Sancti Spiritus, Cuba

Specialist in General Medicine, 1st Degree and in Immunology, 2nd Degree Master in medical emergencies. Assistant Professor

Cándido Marcos León Márquez, Camilo Cienfuegos Provincial General Hospital Sancti Spiritus, Cuba

Specialist in Immunology, 1st Degree Assistant Professor

Grace Alicia De Lara García, Hospital General “Tomas Carrera Galiano” Trinidad, Sancti Spíritus, Cuba

Second Degree Specialist in Immunology Assistant Professor

Ernesto Gabriel Caraballosa Yero, Camilo Cienfuegos Provincial General Hospital Sancti Spiritus, Cuba

Specialist in Immunology, 1st Degree Master in Comprehensive Child Care. Assistant Professor

References

1.Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022;42:1508–20.

2.Olaya M, Cleves D, Guzmán T, Torres-Canchala L, Pachajoa H, MedinaValencia D, et al. Demographic and clinical characterization of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital. Allergol Immunopathol. 2022;50:17–22.

3.Rivoisy C, Gérard L, Boutboul D ,et al. Parental consanguinity is associated with a severe phenotype in common variable immunodeficiency. J Clin Immunol 2012; 32: 98– 105.

4.Villa M, Merhar C, Nievas E, Palma A, et al. Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad. Arch Argent Pediatr 2023;121(1):e202202885.

5.Boton Pereira DH, Primo LS, Pelizari G, Flores E, Moraes-Vasconcelos D de, Condino-Neto A, et al. Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach. Front Immunol. 2020;11:862.

6.Fernandes Pineda M, Mata Cortes 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 Médica Colombiana 2024; 49(1)

7.Pérez LC, Gónzalez M.Addine B,Miló CA,Marrón R. Inmunodeficiencias primarias por déficit de IgA. Heterogeneidad clínica y reto diagnóstico. Rev Ciencias Médicas[Revista en Internet] .2023 Oct [citado 2024 Jun 10];27(5):Disponible en:http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561-31942023000600019&lng=es. Epub 01– Sep– 2023.

8.Casanova JL,Abel L.Lethal Infectious Diseases as Inborn Errors of Immunity:Toward a Synthesis of the Germ and Genetic Theories Annual Review of Pathology:Mechanisms of Disease.Annual Rev 2021;16:23–50.

9.Elsink K, van Montfrans JM, van Gijn ME, Blom M, van Hagen PM, Kuijpers TW, et al. Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review. Clinical Immunology. 1 de abril de 2020;213:108359.

10.Alonso Valle A, Candelaria-Gómez B, Valdés-Lanza L. Inmunodeficiencias primarias: un reto para la inmunogenética. Rev Cuba Reumatol. 2020; 22( 2 ): e828

11.Valizadeh A, Yazdani R, Azizi G. A comparison of clinical and immunologic phenotypes in familial and sporadic forms of common variable immunodeficiency. Scandinavian Journal of Immunology 2017; 86: 239–247.

12.Yáñez L, Lama P, Rivacoba C, Zamorano J, Marinovic MA. Inmunodeficiencias primarias en niños gravemente enfermos: a propósito de 3 casos clínicos. Rev. chil. pediatr. [Internet]. 2017 [citado 2019 Jun 12]; 88(1): 136-141. Disponible en: https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0370-41062017000100010&lng=es. http://dx.doi.org/10.1016/j.rchipe.2016.07.011.

13.Yepes-Madrid N, Moreno-Giraldo LJ. Rol de la genómica en la identificación de pacientes con errores innatos de la inmunidad. Salutem Scientia Spiritus 2023; 9(3):74-79.

14.Villaa M, Merhara C, Nievasa E, Palmaa A, Di Giovannia D, Orellanaa JC, et al.Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad.Arch Argent Pediatr 2023;121(1):e202202885

15.Ortega Franco IE,Zavaleta Martínez O,Martín De Saro M,Blancas Galicia L,Espinosa Padilla SE.Registro de inmunodeficiencias primarias del Hospital Materno Infantil del Estado de Mexico.Alerg Asma Inmunol Pediatr.2023;32(1-3):17-22 doi:10.35366/115242

16.Sipe CJ, Vázquez PN, Skeate JG, et al. Targeted Genome Editing for the Correction or Alleviation of Primary Immunodeficiencies. In: Progress in Molecular Biology and Translational Science. 2021; 111-151; DOI: 10.1016/bs.pmbts.2021.03.00

17.Kohn LA, Kohn DB. Gene Therapies for Primary Immune Deficiencies. Front Immunol 2021; 12. DOI: 10.3389/ fimmu.2021.648951

Published

2025-02-01

How to Cite

1.
Naranjo Herrera Y, Chávez Alfonso M del C, Concepción Ulloa V, León Márquez CM, De Lara García GA, Caraballosa Yero EG. Selective Immunoglobulins deficiency in relatives antibody deficiency patient. Acta Méd Centro [Internet]. 2025 Feb. 1 [cited 2025 Jul. 1];19(1):e2055. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/e2055

Issue

Section

Original Articles