Beyond Genes: The Social Dimensions of Inborn Errors of Immunity
Abstract
Inborn errors of immunity (IEIs) necessitate a well-funded healthcare system and substantial financial resources for diagnosis and treatment. More than that, these diseases and socioeconomic status are inversely related. Immune deficiencies are better managed by those with higher socioeconomic position, but the emotional and financial tolls of living with a compromised immune system can be devastating for patients and their families, causing them to struggle financially for years to come. For a long time, the patient and people close to her are impacted by these conditions. Conversely, the national healthcare system and patients' socioeconomic situation determine the likelihood of early diagnosis and successful treatment. Development of the immune system throughout infancy is really crucial. Fetal development is regulated by maternal nutrition, psychological stress, the mother's mental health, and supporting social networks. The immune system develops from conception and matures during neonatal and early childhood. Effective IEI management and therapy require genetic and social factors to interact. Geneticists, immunologists, healthcare providers, and politicians must collaborate to address IEIs. Insufficient resources for complete newborn screening and genetic testing for all patients make treating the increased incidence of autosomal recessive and genetic diseases in MENA problematic. Primary immunodeficiency (PID) treatments including stem cell transplantation and gene therapy are limited in Latin America and Africa. Parental comprehension, awareness, and attitudes of PID genetic testing depend on service accessibility, familial history, and individual circumstances. Patients resist genetic therapy due to financial constraints, notably the high cost of genetic testing. Hematopoietic stem cell transplantation (HSCT) may treat nonmalignant lymphohematopoietic diseases, myeloid and lymphoid malignancies, immunological deficits, genetic disorders, and inborn metabolic problems. Improving PID outcomes requires correcting these discrepancies. This review aims to underscore the critical need for heightened awareness and improved diagnostic methods for IEIs by analyzing the interplay between genetic factors and societal influences.
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4. Dinur-Schejter Y, Stepensky P. Social determinants of health and primary immunodeficiency. Annals of Allergy, Asthma & Immunology. 2022;128(1):12-8.
5. Moraes-Pinto MI, Suano-Souza F, Aranda CS. Immune system: development and acquisition of immunological competence. J Pediatr (Rio J). 2021;97 Suppl 1(Suppl 1):S59-s66.
6. Hossain Z, Reza AHMM, Qasem WA, Friel JK, Omri A. Development of the immune system in the human embryo. Pediatric Research. 2022;92(4):951-5.
7. Marques AH, O'Connor TG, Roth C, Susser E, Bjørke-Monsen AL. The influence of maternal prenatal and early childhood nutrition and maternal prenatal stress on offspring immune system development and neurodevelopmental disorders. Front Neurosci. 2013; 31;7:120.
8. Hoeffel G, Chen J, Lavin Y, Low D, Almeida FF, See P, et al. C-Myb(+) erythro-myeloid progenitor-derived fetal monocytes give rise to adult tissue-resident macrophages. Immunity. 2015;42(4):665-78.
9. Gomez Perdiguero E, Klapproth K, Schulz C, Busch K, Azzoni E, Crozet L, et al. Tissue-resident macrophages originate from yolk-sac-derived erythro-myeloid progenitors. Nature. 2015;518(7540):547-51.
10. Li Z, Liu S, Xu J, Zhang X, Han D, Liu J, et al. Adult Connective Tissue-Resident Mast Cells Originate from Late Erythro-Myeloid Progenitors. Immunity. 2018;49(4):640-53.e5.
11. Shimizu Y, Sakata-Haga H, Saikawa Y, Hatta T. Influence of Immune System Abnormalities Caused by Maternal Immune Activation in the Postnatal Period. Cells. 2023;12(5).
12. Santurtún A, Riancho J, Riancho JA. The Influence of Maternal and Social Factors During Intrauterine Life. In: Miszkiewicz JJ, Brennan-Olsen SL, Riancho JA, editors. Bone Health: A Reflection of the Social Mosaic. Singapore: Springer Singapore; 2019. p. 129-49.
13. Colbin A. Setting up the Immune System. In: Mizrahi A, Fulder S, Sheinman N, editors. Potentiating Health and the Crisis of the Immune System: Integrative Approaches to the Prevention and Treatment of Modern Diseases. Boston, MA: Springer US; 1997. p. 93-101.
14. Prentice RE, Wright EK, Flanagan E, Hunt RW, Moore GT, Nold-Petry CA, et al. The Effect of In Utero Exposure to Maternal Inflammatory Bowel Disease and Immunomodulators on Infant Immune System Development and Function. Cell Mol Gastroenterol Hepatol. 2023;16(1):165-81.
15. Gauthier TW. Prenatal Alcohol Exposure and the Developing Immune System. Alcohol Res. 2015;37(2):279-85.
16. Rezaei N, Pourpak Z, Aghamohammadi A, Farhoudi A, Movahedi M, Gharagozlou M, et al. Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. Am J Reprod Immunol. 2006;56(2):145-51.
17. Hamamy HA, Masri AT, Al-Hadidy AM, Ajlouni KM. Consanguinity and genetic disorders. Profile from Jordan. Saudi Med J. 2007;28(7):1015-7.
18. Al-Herz W, Aldhekri H, Barbouche M-R, Rezaei N. Consanguinity and Primary Immunodeficiencies. Human Heredity. 2014;77(1-4):138-43.
19. Aghamohammadi A, Abolhassani H, Moazzami K, Parvaneh N, Rezaei N. Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults. J Investig Allergol Clin Immunol. 2010;20(5):372-9.
20. Hafez M, El-Tahan H, Awadalla M, El-Khayat H, Abdel-Gafar A, Ghoneim M. Consanguineous matings in the Egyptian population. J Med Genet. 1983;20(1):58-60.
21. Bener A, Abdulrazzaq YM, al-Gazali LI, Micallef R, al-Khayat AI, Gaber T. Consanguinity and associated socio-demographic factors in the United Arab Emirates. Hum Hered. 1996;46(5):256-64.
22. Jurdi R, Saxena PC. The prevalence and correlates of consanguineous marriages in Yemen: similarities and contrasts with other Arab countries. J Biosoc Sci. 2003;35(1):1-13.
23. Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al Khaja N, Hamamy HA. Consanguinity and reproductive health among Arabs. Reprod Health. 2009;6:17.
24. 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. 2017;8:678.
25. Jamee M, Azizi G, Baris S, Karakoc-Aydiner E, Ozen A, Kiliç SŞ, et al. Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry. Clinical Immunology. 2022;244:109131.
26. Bittles AH. A community genetics perspective on consanguineous marriage. Community Genet. 2008;11(6):324-30.
27. Teebi AS, Teebi SA. Genetic diversity among the Arabs. Community Genet. 2005;8(1):21-6.
28. 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. Journal of Clinical Immunology. 2021;41(6):1339-51.
29. Espinosa-Rosales FJ, Condino-Neto A, Franco JL, Sorensen RU. Into Action: Improving Access to Optimum Care for all Primary Immunodeficiency Patients. J Clin Immunol. 2016;36(5):415-7.
30. Esser M. Primary immunodeficiency-Missed opportunities and treatment challenges. Current Allergy & Clinical Immunology. 2012;25(4):184-8.
31. Ahmad Azahari AHS, Hakim Zada F, Ismail IH, Abd Hamid IJ, Lim BWD, Ismail NAS, et al. Knowledge, awareness, and perception on genetic testing for primary immunodeficiency disease among parents in Malaysia: a qualitative study. Front Immunol. 2023;14:1308305.
32. Imai K, Oh A, Morishita A, Inoue Y. Physician awareness and understanding of primary immunodeficiency disorders: a web-based study in Japan. Immunol Med. 2023;46(1):45-57.
33. Boyarchuk O, Volyanska L, Kosovska T, Lewandowicz-Uszynska A, Kinash M. AWARENESS OF PRIMARY IMMUNODEFICIENCY DISEASES AMONG MEDICAL STUDENTS. Georgian Med News. 2018(285):124-30.
34. Veramendi-Espinoza LE, Zafra-Tanaka JH, Toribio-Dionicio C, Huamán MR, Pérez G, Córdova-Calderón W. Awareness of primary immunodeficiency diseases at a national pediatric reference center in Peru. Einstein (Sao Paulo). 2021;19:eAO6289.
35. Boyarchuk O, Lewandowicz-Uszyńska A, Kinash M, Haliyash N, Sahal I, Kovalchuk T. Physicians’ awareness concerning primary immunodeficiencies in the Ternopil Region of Ukraine. Pediatria Polska - Polish Journal of Paediatrics. 2018;93(3):221-8.
36. Waltenburg R, Kobrynski L, Reyes M, Bowen S, Khoury MJ. Primary immunodeficiency diseases: practice among primary care providers and awareness among the general public, United States, 2008. Genet Med. 2010;12(12):792-800.
37. Dantas EO, Aranda CS, Rêgo Silva AM, Tavares FS, Severo Ferreira JF, de Quadros Coelho MA, et al. Doctors' awareness concerning primary immunodeficiencies in Brazil. Allergol Immunopathol (Madr). 2015;43(3):272-8.
38. Dantas Ede O, Aranda CS, Nobre FA, Fahl K, Mazzucchelli JT, Felix E, et al. Medical awareness concerning primary immunodeficiency diseases in the city of São Paulo, Brazil. Einstein (Sao Paulo). 2013;11(4):479-85.
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| Files | ||
| Issue | Vol 7, No 1 (2024) | |
| Section | Review Article | |
| DOI | https://doi.org/10.18502/igj.v7i1.17516 | |
| Keywords | ||
| IEIs PIDs Immunological Dysregulation Immunodeficiency | ||
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How to Cite
1.
Karimzadeh-Soureshjani E, Pourhasan F, Ahmadi Simab P, Saeedi-Boroujeni A. Beyond Genes: The Social Dimensions of Inborn Errors of Immunity. Immunol Genet J. 2024;7(1):11-23.
