Autoimmunity in Primary Immunodeficiencies (PID)

Overview

Journal Clin Rev Allergy Immunol

Specialty Allergy & Immunology

Date 2022 Jun 1

PMID 35648371

Authors

Grace T Padron

Vivian P Hernandez-Trujillo

Affiliations

Soon will be listed here.

Abstract

Primary immunodeficiency (PID) may impact any component of the immune system. The number of PID and immune dysregulation disorders is growing steadily with advancing genetic detection methods. These expansive recognition methods have changed the way we characterize PID. While PID were once characterized by their susceptibility to infection, the increase in genetic analysis has elucidated the intertwined relationship between PID and non-infectious manifestations including autoimmunity. The defects permitting opportunistic infections to take hold may also lead the way to the development of autoimmune disease. In some cases, it is the non-infectious complications that may be the presenting sign of PID autoimmune diseases, such as autoimmune cytopenia, enteropathy, endocrinopathies, and arthritis among others, have been reported in PID. While autoimmunity may occur with any PID, this review will look at certain immunodeficiencies most often associated with autoimmunity, as well as their diagnosis and management strategies.

Citing Articles

Pathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.

Galletta F, Gambadauro A, Foti Randazzese S, Passanisi S, Sinatra V, Caminiti L Life (Basel). 2024; 14(10).

PMID: 39459629 PMC: 11509725. DOI: 10.3390/life14101329.

Adaptive Cellular Responses following SARS-CoV-2 Vaccination in Primary Antibody Deficiency Patients.

Gupta S, Su H, Agrawal S, Demirdag Y, Tran M, Gollapudi S Pathogens. 2024; 13(6).

PMID: 38921811 PMC: 11206773. DOI: 10.3390/pathogens13060514.

Polyamine Dysregulation and Nucleolar Disruption in Alzheimer's Disease.

Brooks W J Alzheimers Dis. 2024; 98(3):837-857.

PMID: 38489184 PMC: 11091575. DOI: 10.3233/JAD-231184.

T4 apoptosis in the acute phase of SARS-CoV-2 infection predicts long COVID.

Cezar R, Kundura L, Andre S, Lozano C, Vincent T, Muller L Front Immunol. 2024; 14:1335352.

PMID: 38235145 PMC: 10791767. DOI: 10.3389/fimmu.2023.1335352.

Immunological Evaluation of Pediatric Patients with Polyautoimmunity.

Mahdavi F, Tavakol M, Aghamahdi F, Sadri H, Chavoshzadeh Z, Jamee M Endocr Metab Immune Disord Drug Targets. 2023; 24(7):798-807.

PMID: 37702233 DOI: 10.2174/1871530323666230912124951.

References

Fischer A, Provot J, Jais J, Alcais A, Mahlaoui N . Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2017; 140(5):1388-1393.e8. DOI: 10.1016/j.jaci.2016.12.978. View

Carneiro-Sampaio M, Coutinho A . Early-onset autoimmune disease as a manifestation of primary immunodeficiency. Front Immunol. 2015; 6:185. PMC: 4419659. DOI: 10.3389/fimmu.2015.00185. View

Price S, Shaw P, Seitz A, Joshi G, Davis J, Niemela J . Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood. 2014; 123(13):1989-99. PMC: 3968385. DOI: 10.1182/blood-2013-10-535393. View

Hadjadj J, Aladjidi N, Fernandes H, Leverger G, Magerus-Chatinet A, Mazerolles F . Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood. 2019; 134(1):9-21. DOI: 10.1182/blood-2018-11-887141. View

Seidel M . Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. Blood. 2014; 124(15):2337-44. PMC: 4192747. DOI: 10.1182/blood-2014-06-583260. View

Gambineri E, Ciullini Mannurita S, Hagin D, Vignoli M, Anover-Sombke S, DeBoer S . Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome. Front Immunol. 2018; 9:2411. PMC: 6223101. DOI: 10.3389/fimmu.2018.02411. View

Kisand K, Peterson P . Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. J Clin Immunol. 2015; 35(5):463-78. DOI: 10.1007/s10875-015-0176-y. View

Cunningham-Rundles C, Maglione P . Common variable immunodeficiency. J Allergy Clin Immunol. 2012; 129(5):1425-1426.e3. DOI: 10.1016/j.jaci.2012.03.025. View

Buchbinder D, Nugent D, Fillipovich A . Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet. 2014; 7:55-66. PMC: 4012343. DOI: 10.2147/TACG.S58444. View

10.

Falcone E, Holland S . Gastrointestinal Complications in Chronic Granulomatous Disease. Methods Mol Biol. 2019; 1982:573-586. DOI: 10.1007/978-1-4939-9424-3_34. View

11.

Chan A, Leiding J, Liu X, Logan B, Burroughs L, Allenspach E . Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey. Front Immunol. 2020; 11:239. PMC: 7046837. DOI: 10.3389/fimmu.2020.00239. View

12.

Grimbacher B, Warnatz K, Yong P, Korganow A, Peter H . The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects. J Allergy Clin Immunol. 2016; 137(1):3-17. DOI: 10.1016/j.jaci.2015.11.004. View

13.

Giardino G, Gallo V, Prencipe R, Gaudino G, Romano R, De Cataldis M . Unbalanced Immune System: Immunodeficiencies and Autoimmunity. Front Pediatr. 2016; 4:107. PMC: 5052255. DOI: 10.3389/fped.2016.00107. View

14.

Schroder-Braunstein J, Kirschfink M . Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management. Mol Immunol. 2019; 114:299-311. DOI: 10.1016/j.molimm.2019.08.002. View

15.

Costagliola G, Cappelli S, Consolini R . Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications. J Clin Med. 2021; 10(20). PMC: 8538991. DOI: 10.3390/jcm10204729. View

16.

Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T . Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol. 2020; 40(1):66-81. PMC: 7082388. DOI: 10.1007/s10875-020-00758-x. View

17.

Shearer W, Dunn E, Notarangelo L, Dvorak C, Puck J, Logan B . Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol. 2013; 133(4):1092-8. PMC: 3972266. DOI: 10.1016/j.jaci.2013.09.044. View

18.

Buckley R . The long quest for neonatal screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2012; 129(3):597-604. PMC: 3294102. DOI: 10.1016/j.jaci.2011.12.964. View

19.

Omenn G . FAMILIAL RETICULOENDOTHELIOSIS WITH EOSINOPHILIA. N Engl J Med. 1965; 273:427-32. DOI: 10.1056/NEJM196508192730806. View

20.

de Saint-Basile G, Le Deist F, De Villartay J, Cerf-Bensussan N, Journet O, Brousse N . Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome). J Clin Invest. 1991; 87(4):1352-9. PMC: 295173. DOI: 10.1172/JCI115139. View