Selective Immunoglobulins deficiency in relatives antibody deficiency patient
Keywords:
selective IgA deficiency, first-degree relativesAbstract
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
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
Downloads
Published
How to Cite
Issue
Section
License
Authors who have publications with this journal agree to the following terms:
- Authors will retain their copyright and assign to the journal the right of first publication of their work, which will simultaneously be subject to a Creative Commons License / Attribution-Noncommercial 4.0 International (CC BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.
- Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g., depositing it in an institutional repository or publishing it in a monographic volume) as long as the initial publication in this journal is indicated.
- Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which can produce interesting exchanges and increase citations of the published work. (See The effect of open access).