Manejo Clínico y Diagnóstico para Pacientes con Enfermedades de Inmunodeficiencia Primaria Por Déficit de Anticuerpos

Palabras clave: Anticuerpos/deficiencia, Anticuerpos/inmu - nología, Síndromes de Inmunodeficienci, Enfermedades de Inmunodeficiencia Primaria, Células Productoras de Anti - cuerpos, Inmunización Pasiva

Resumen

Las inmunodeficiencias primarias son un grupo de más de 400 enfermedades, en las cuales el sistema inmune pierde sus funciones de reconocimiento de patógenos o funciona de forma inapropiada. Algunas de ellas son relativamente comunes; mientras otras son raras. Estas enfermedades son en ocasiones de por vida, debilitantes y costosas1,2 Sin embargo, muchos progresos se han hecho desde su descripción original en el año de 1952. Se han dado grandes pasos en cuanto a su entendimiento de las Inmunodeficiencias Primarias a nivel genético, de sus características, y tratamiento. Algunos tipos afectan un único tipo de célula; otros afectan más de un componente del sistema inmune2,3. Tomando en cuenta que la aproximación es entre 1-2% de la población, a nivel país se puede decir que un aproximado entre 170 000 a 340 000 pacientes en el país no cuentan con un diagnóstico y muchos mueren por falta de este. El número de afiliados al Instituto Ecuatoriano de Seguridad Social hasta julio de 2021 es de 3 672,611 por lo que se considera que un estimado de 36 726 a 73 452 pacientes podrían presentar este tipo de enfermedades y requerir de atención por infecciones a repetición, enfermedad autoinmune y enfermedades linfopro-liferativas, además de que sin un tratamiento específico podrían fallecer debido a infecciones graves o tener discapacidad permanente, lo que implica mayor carga para el sistema de Seguridad Social en subsidios y menores ingresos. Ecuador, cuenta con 86 pacientes diagnosticados, según la base de datos de la Sociedad Latino-Americana de Inmunodeficiencias4.Algunas terapias, como la de reemplazo para inmunoglobulinas, a la que es tributaria más del 60% de estas patologías permite que la esperanza de vida y la morbilidad casi alcancen a aquellos que no presentan la enfermedad5–7.

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Citas

Solé D. Primary immunodeficiencies: ¿a diagnostic challenge? J Pediatr (Rio J) [Internet]. 2021 Mar-Apr 1;97: S1–2. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0021755720302540

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 Jan 11;40(1):66–81. Available from: http://link.springer.com/10.1007/s10875-020-00758-x

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 [Internet]. 2020 Jul 2;16(7):717–32. DOI: https://doi.org/10.1080/1744666X.2020.1801422

Latin American Society for Immunodeficiencies. Lasid Registry [Internet]. 2021 [cited 2021 Mar 4]. Available from: https://lasidregistry.org/lasid/statistics/general

Modell V, Orange JS, Quinn J, Modell F. Global reporton primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes. Immunol Res [Internet]. 2018 Jun 9; 66:367–80. Available from:

http://link.springer.com/10.1007/s12026-018-8996-5

Condino-Neto A, Espinosa-Rosales FJ. Changing the Lives of People With Primary Immunodeficiencies (PI) With Early Testing and Diagnosis. Front Immunol [Internet]. 2018 Jun 25;9(JUN). Available

from: https://www.frontiersin.org/article/10.3389/fimmu.2018.01439/full

Wilder P van, Odnoletkova I, Mouline M, de Vries E. Immunoglobulin Replacement Therapy is critical and cost-effective in increasing life expectancy and quality of life in patients suffering from Common Variable Immunodeficiency Disorders (CVID): A health-economic assessment. Lu K, editor. PLoS One [Internet]. 2021 Mar 4;16(3 March): e0247941. DOI: https://dx.plos.org/10.1371/journal.pone.0247941

Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human Inborn Errors of

Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol [Internet]. 2020 Jan 17; 40:24–64. Available from:

http://link.springer.com/10.1007/s10875-019-00737-x

Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova J-L, Chatila T, et al. International Union of Immuno

logical Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol [Internet]. 2018 Jan 11 [cited 2021 Mar 2];38(1):96–128. Available from:

http://link.springer.com/10.1007/s10875-017-0464-9

Modell F, Puente D, Modell V. From genotype to phenotype. Further studies measuring the impact of a Physician Education and Public Awareness Campaign on early diagnosis and management of Primary Immunodeficiencies. Immunol Res [Internet]. 2009 Jul 13 [cited 2022 Jan 3]; 44:132–49. Available from: http://link.springer.com/10.1007/s12026-008-8092-3

Bousfiha AA, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova J-L, et al. Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought. J Clin Immunol [Internet]. 2013 Jan 31 [cited 2020 Jan 6]; 33:1–7. Available from: http://link.springer.com/10.1007/s10875-012-9751-7

Quinn J, Orange JS, Modell V, Modell F. The case for severe combined immunodeficiency (SCID) and T cell lym

phopenia newborn screening: saving lives...one at a time.

Immunol Res [Internet]. 2020 Feb 4; 68:48–53. Available from:

http://link.springer.com/10.1007s12026-020-09117-9

Chapel H, Prevot J, Gaspar HB, Español T, Bonilla FA, Solis L, et al. Primary Immune Deficiencies - Principles of

Care. Front Immunol [Internet]. 2014 Dec 15;5(DEC):1–12. Available from:

https://www.frontiersin.org/articles/10.3389/fimmu.2014.00627/full

Kumrah R, Vignesh P, Patra P, Singh A, Anjani G, Saini P, et al. Genetics of severe combined immunodeficiency [Internet]. Vol. 7, Genes and Diseases. Chongqing University; 2020 [cited 2021 Mar 5]. p. 52–61. Available from: https://doi.org/10.1016/j.gendis.2019.07.004

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 [Internet]. Vol. 213, Clinical Immunology. Academic Press Inc.; 2020 [cited 2021 Mar 2]. Available from:

www.elsevier.com/locate/yclim

Heimall J, Cowan MJ. Long term outcomes of severe combined immunodeficiency: therapy implications. [cited

Mar 5]; Available from: https://pubmed.ncbi.nlm.nih.gov/28918671/

Chinn IK, Shearer WT. Severe Combined Immunodeficiency Disorders [Internet]. Immunology and Allergy Cli

nics of North America. W.B. Saunders; 2015 [cited 2021 Mar 2015]. Vol. 35 (4):671–94. Available from:

https://linkinghub.elsevier.com/retrieve/pii/S088985611500051X

Nordin J, Solís L, Prévot J, Mahlaoui N, Chapel H, Sánchez-Ramón S, et al. The PID Principles of Care: Where

Are We Now? A Global Status Report Based on the PID Life Index. Front Immunol [Internet]. 2021 Nov 18 [cited

Jan 3];12. Available from: https://www.frontiersin.org/articles/10.3389/fimmu.2021.780140/full

Zelm MC van, Condino-Neto A, Barbouche MR. Editorial: Primary Immunodeficiencies Worldwide [Internet].

Vol. 10, Frontiers in Immunology. Frontiers Media S.A.; 2020. Available from:

https://www.frontiersin.org/article/10.3389/fimmu.2019.03148/full

Buckley R. Diagnostic & Clinical Care Guidelines for Primary Immunodeficiency Diseases, 3rd Edition [Internet]. 2015. Available from:

https://primaryimmune.org/sites/default/files/publications/2015-Diagnostic-and-Clinical-Care-Guidelines-for-PI_1.pdf

Singh S, Zhao X, Zhang H. Primary Immune Deficiencies – A rapidly emerging area of basic and clinical research [Internet]. Genes and Diseases. Chongqing University; March 2020; Vol. 7(1): 1-2. [cited 2021 Mar 5]. Available from: https://doi.org/10.1016/j.gendis.2020.01.006

Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol [Internet]. 2010 Feb [cited 2021 Mar 5];125(2 SUPPL. 2): S182–94. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0091674909011622

Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol [Internet]. 2007 Sep 19;27(5):497–502. Available from:

https://link.springer.com/10.1007/s10875-007-9103-1

Pedroza LA, Guerrero N, Stray-Pedersen A, Tafur C, Macias R, Muñoz G, et al. First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis. Front Pediatr [Internet]. 2017 Feb 10 [cited 2021 Mar 5];5. Available from: http://journal.frontiersin.org/article/10.3389/fped.2017.00017/full

Villavicencio MF, Pedroza LA. Diagnosis of primary immunodeficiency diseases in the developing world: The need for education and networking with the developed world [Internet]. Vol. 31, Current Opinion in Pediatrics. Lippincott Williams and Wilkins; 2019 [cited 2021 Mar 5]. p. 835–42. Available from: https://journals.lww.com/10.1097/MOP.0000000000000834

Modell V, Gee B, Lewis DB, Orange JS, Roifman CM, Routes JM, et al. Global study of primary immunodeficiency diseases (PI)—diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res [Internet]. 2011 Oct 21;51(1):61–70. Available from:

http://link.springer.com/10.1007/s12026-011-8241-y

Aluri J, Desai M, Gupta M., Dañvo A., Terance A, Rosenzweig S. et al. Clinical, Immunological, and Molecular

Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India. Front Immunol | www.frontiersin.org [Internet]. 2019 [cited 2021 Mar 5]; 10:23. Available from:

https://www.frontiersin.org/articles/10.3389/fimmu.2019.00023/full

Gennery AR, Speckmann C, Pai S-Y, Van Der Burg M, Mahlaoui N, Gaspar HB. Universal Newborn Screening for Severe Combined Immunodeficiency (SCID). Front Pediatr | [Internet]. 2019 [cited 2021 Mar 5]; 7:373. Available from:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759820#:~:text=NBS%20for%20SCID%20based%20on,SCID%20patients%20and%20cost%20effectiveness.

Thomas C, Durand-Zaleski I, Frenkiel J, Mirallié S, Léger A, Cheillan D, et al. Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results. Clin Immunol [Internet]. 2019 May; 202:33–9. Available from:

https://www.sciencedirect.com/science/article/abs/piiS1521661619300051?via%3Dihub.

Leung D, Lee PPW, Lau YL. Review of a decade of international experiences in severe combined immunodeficiency newborn screening using t-cell receptor excision circle [Internet]. Vol. 25, Hong Kong Journal of Paediatrics. 2020. p. 30–41. Available from:

https://www.semanticscholar.org/paper/Review-of-a-Decade-of-International-Experiences-in-Leung-Lee/a45a26098c92a81b93eb86fe9b66d2fdfe61bdea

Van der Ploeg CPB, Blom M, Bredius RGM, van der Burg M, Schielen PCJI, Verkerk PH, et al. Cost-effectiveness of newborn screening for severe combined immunodeficiency. Eur J Pediatr [Internet]. 2019 May 25;178(5):721–9. Available from: http://link.springer.com/10.1007/s00431-019-03346-332. Costa-Carvalho BT, Grumach AS, Franco JL, Espinosa-Rosales FJ, Leiva LE, King A, et al. Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice [Internet]. Vol. 34, Journal of Clinical Immunology. 2014 [cited 2022 Jan 3]. p. 10–22. Available from:

http://link.springer.com/10.1007/s10875-013-9954-6

Bahrami A, Sayyahfar S, Soltani Z, Khodadost M, Moazzami B, Rezaei N. Evaluation of the frequency and diag

nostic delay of primary immunodeficiency disorders among suspected patients based on the 10 warning sign criteria: A cross-sectional study in Iran. Allergol Immunopathol (Madr) [Internet]. 2020 Nov 1;48(6):711–9. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0301054620300641

Rich RR. Clinical immunology: principles and practice [Internet]. 2001. 1–13 p. ISBN: 0723431612. Available

from: http://www.lib.hiroshima-u.ac.jp/?page_id=254#catdbn-BA5411721X

Sriaroon P, Ballow M. Immunoglobulin Replacement Therapy for Primary Immunodeficiency [Internet]. Immunology and Allergy Clinics of North America. W.B. Saunders; 2015. 35(4): 713–30. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0889856115000557

Berger M. Choices in IgG replacement therapy for primary immune deficiency diseases: Subcutaneous IgG vs.

intravenous IgG and selecting an optimal dose [Internet]2011. Vol. 11(6), 2011: 532–8. Available from: https://journals.lww.com/00130832-201112000-00007

Gardulf A, Nicolay U, Asensio O, Bernatowska E, Böck A, Costa-Carvalho BT, et al. Children and adults with pri

mary antibody deficiencies gain quality of life by subcutaneous IgG self-infusions at home. J Allergy Clin Immunol

[Internet]. [cited 2022 Jan 3];2004 oct. 114(4):936–42. Available from:

https://linkinghub.elsevier.com/retrieve/pii/S0091674904019980

Condino-Neto A, Costa-Carvalho BT, Grumach AS, King A, Bezrodnik L, Oleastro M, et al. Guidelines for the use of human immunoglobulin therapy in patients with primary immunodeficiencies in Latin America. Allergol Immunopathol (Madr) [Internet]. 2014 May-Jun;42(3):245–60. Available from:

https://linkinghub.elsevier.com/retrieve/pii/S0301054612002984

Krivan G, Jolles S, Granados EL, Paolantonacci P, Ouaja R, Cissé OA, et al. New insights in the use of immunoglobulins for the management of immune deficiency (PID) patients. Am J Clin Exp Immunol Internet].

;6(5):76–83. Available from: http://www.ncbi.nlm.nih.gov/pubmed/29181272

Shabaninejad H, Asgharzadeh A, Rezaei N, Rezapoor A. A Comparative Study of Intravenous Immunoglobulin and Subcutaneous Immunoglobulin in Adult Patients with Primary Immunodeficiency Diseases: A Systematic Review and Meta-Analysis. Expert Rev Clin Immunol [Internet]. 2016 May 3;12(5):595–602. Available from: http://www.tandfonline.com/doi/full/10.1586/1744666X.2016.1155452

Shrestha P, Karmacharya P, Wang Z, Donato A, Joshi AY. Impact of IVIG vs. SCIG on IgG trough level and infection incidence in primary immunodeficiency diseases: A systematic review and meta-analysis of clinical studies. World Allergy Organ J [Internet]. 2019;12(10):100068. Available from:

https://doi.org/10.1016/j.waojou.2019.100068

Abolhassani H, Tavakol M, Chavoshzadeh Z, Alireza M, Momen T, Yazdani R. et al. National Consensus on Diagnosis and Management Guidelines for Primary Immunodeficiency. Immunol Genet J [Internet]. 2019 [cited 2022 Jan 3];2(1):8–20. Available from:

https://igj.tums.ac.ir/index.php/igj/article/view/9/11

McCusker C, Upton J, Warrington R. Primary immunodeficiency. Allergy, Asthma Clin Immunol Internet]. 2018 Sep 12 [cited 2021 Mar 5];14(S2):61. Available from:

https://aacijournal.biomedcentral.com/articles/10.1186/s13223-018-0290-5

Picard C, Al-Herz W, Bousfiha A, Casanova J-L, Chatila T, Conley ME, et al. Primary Immunodeficiency Diseases:

an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol [Internet]. 2015 Nov 19;35(8):696–726. Available from: http://link.springer.com/10.1007/s10875-015-0201-1

Riaz I Bin, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol [Internet]. 2019 Apr 16 [cited 2022 Jan 3];10(MAR). Available from: https://www.frontiersin.org/article/10.3389/fimmu.2019.00777/full

Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, et al. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. J Allergy Clin Immunol [Internet]. 2020 Oct 1 [cited 2021 Mar 5];146(4):901–11. Available from: https://doi.org/10.1016/j.jaci.2019.11.051

Barrios Y, Franco A, Alonso-Larruga A, Sánchez-Machín I, Poza-Guedes P, Gonzalez R, et al. Success With Multidisciplinary Team Work: Experience of a Primary Immunodeficiency Unit. J Investig Allergol Clin Immunol [Internet]. 2020 Jun 18;30(3):208–10. Available from: http://www.jiaci.org/summary/vol30-issue3-num2028

Al-Mousa H, Al-Saud B. Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care. Front Immunol [Internet]. 2017 Jun 26 [cited 2021 Mar 5];8(JUN). Available from: http://journal.frontiersin.org/article/10.3389/fimmu.2017.00678/full

USA. Comité de Asesoramiento Médico de la Jeffrey Modell Foundation. 10 señales de peligro de las inmunodeficiencias primarias. Disponible en:

https://pacientes.seicap.es/semana-mundial-de-las-inmunodeficiencias-primarias-del-22-al-29-de-abril_36001

Publicado
2022-06-30
Cómo citar
1.
De la Torre Cevallos R. Manejo Clínico y Diagnóstico para Pacientes con Enfermedades de Inmunodeficiencia Primaria Por Déficit de Anticuerpos. CAMbios-HECAM [Internet]. 30jun.2022 [citado 30ene.2023];21(1):1-4: e767. Available from: https://revistahcam.iess.gob.ec/index.php/cambios/article/view/767