Treatment of Patients with Inborn Errors of Immunity Should Not Be Postponed until Genetic Confirmation
-
Saba Fekrvand
,
Samaneh Abdolahzade
,
Marjan Aghajani
,
Mina Ahmadi
,
Mostafa Alavi-Moghaddam
,
Saba Arshi
,
Maryam Asarehzadegan Dezfouli
,
Marzieh Asgharyan
,
Parisa Ashournia
,
Aida Askari Sarvestani
,
Raheleh Assari
,
Hadi Badiee
,
Sima Bahrami
,
Maryam Behfar
,
Nasrin Behniafard
,
Mahsa Choroom Kheirabadi
,
Zahra Daneshmandi
,
Mohammad Hassan Bemanian
,
Taher Cheraghi
,
Kian Darabi
,
Sepideh Darougar
,
Sarehsadat Ebrahimi
,
Golnaz Eslamian
,
Maryam Esmaeilbeig
,
Morteza Fallahpour
,
Nader Faraji
,
Shahin Farzadmanesh
,
Kimiya HajiAbbasi Someesaraie
,
Arash Kalantari
,
Mahdieh Karimizadeh
,
Elham Kaviani
,
Mehrnaz Mesdaghi
,
Majid Marjani
,
Mohammadreza Modaresi
,
Iraj Mohammadzadeh
,
Mahshid Movahedi
,
Masoud Movahedi
,
Mohammad Nabavi
,
Leyla Norouzi-Barough
,
Anahita Razaghian
,
Mansoureh Shariat
,
Sahar Seraj
,
Soodeh Seyedi
,
Seyedehshabnam Seyedsalehi
,
Alireza Shafiei
,
Zahra Shahraki Ghadimi
,
Behzad Shakerian
,
Samin Sharafian
,
Sima Shokri
,
Marzieh Tavakol
,
Ahmad Vosughimotlagh
,
Reza Yazdani
,
Nima Rezaei
Abstract
None.
1. Bousfiha AA, Jeddane L, Moundir A, Poli MC, Aksentijevich I, Cunningham-Rundles C, et al. The 2024 update of IUIS phenotypic classification of human inborn errors of immunity. J Hum Immun. 2025;1(1):e20250002.
2. Rezaei N SM, de Vries E, Bousfiha AA, Orange J, Puck J. Introduction on inborn errors of immunity. In Rezaei N, ed. Inborn errors of immunity: definition, diagnosis, and management. Springer Nature, Switzerland 2025. 1-120.
3. Abolhassani H, Avcin T, Bahceciler N, Balashov D, Bata Z, Bataneant M, et al. Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021. Front Immunol. 2022;13:1032358.
4. Pimenta F, Palma SMU, Constantino-Silva RN, Grumach AS. Hypogammaglobulinemia: a diagnosis that must not be overlooked. Braz J Med Biol Res. 2019;52(10):e8926.
5. Grumach AS, Goudouris ES. Inborn Errors of Immunity: how to diagnose them? Jornal de Pediatria. 2021;97.
6. dos Santos Vilela MM. Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it. Jornal de Pediatria. 2021;97:S67-S74.
7. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999;93(3):190-7.
8. Conley ME. Genetics of hypogammaglobulinemia: what do we really know? Curr Opin Immunol. 2009;21(5):466-71.
9. Reza Y, Samaneh A, Parisa A, Aida A, Sima B, Maryam B, et al. National Consensus Guideline on Diagnosis and Management of Predominantly Antibody Deficiencies. Immunology and Genetics Journal. 2024;7(2).
10. Donadieu J, Beaupain B, Fenneteau O, Bellanne-Chantelot C. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. Br J Haematol. 2017;179(4):557-74.
11. Min KI, Byeon S. Diagnosis and management of neutropenia. Blood Res. 2025;60(1):30.
12. Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet J Rare Dis. 2011;6(1):26.
13. Fekrvand S, Yazdani R, Abdolahzade S, Ashournia P, Askarisarvestani A, Bahrami S, et al. National Consensus Guideline on Diagnosis and Management of Congenital Neutropenias. Immunology and Genetics Journal. 2024.
14. Song E, Jaishankar GB, Saleh H, Jithpratuck W, Sahni R, Krishnaswamy G. Chronic granulomatous disease: a review of the infectious and inflammatory complications. Clin Mol Allergy. 2011;9(1):10.
15. Staudacher O, von Bernuth H. Clinical presentation, diagnosis, and treatment of chronic granulomatous disease. Front Pediatr. 2024;12:1384550.
16. Justiz-Vaillant AA, Williams-Persad AF, Arozarena-Fundora R, Gopaul D, Soodeen S, Asin-Milan O, et al. Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment. Microorganisms. 2023;11(9):2233.
17. Lugo Reyes SO, Gonzalez Garay A, Gonzalez Bobadilla NY, Rivera Lizarraga DA, Madrigal Paz AC, Medina-Torres EA, et al. Efficacy and Safety of Interferon-Gamma in Chronic Granulomatous Disease: a Systematic Review and Meta-analysis. J Clin Immunol. 2023;43(3):578-84.
18. Delavari S, Yazdani R, Abolhassani H, Salami F, Ashournia P, Askarisarvestani A, et al. National Consensus Guideline on Diagnosis and Management of Chronic Granulomatous Disease. Immunol Genet J. 2025;8(3):258-266.
2. Rezaei N SM, de Vries E, Bousfiha AA, Orange J, Puck J. Introduction on inborn errors of immunity. In Rezaei N, ed. Inborn errors of immunity: definition, diagnosis, and management. Springer Nature, Switzerland 2025. 1-120.
3. Abolhassani H, Avcin T, Bahceciler N, Balashov D, Bata Z, Bataneant M, et al. Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021. Front Immunol. 2022;13:1032358.
4. Pimenta F, Palma SMU, Constantino-Silva RN, Grumach AS. Hypogammaglobulinemia: a diagnosis that must not be overlooked. Braz J Med Biol Res. 2019;52(10):e8926.
5. Grumach AS, Goudouris ES. Inborn Errors of Immunity: how to diagnose them? Jornal de Pediatria. 2021;97.
6. dos Santos Vilela MM. Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it. Jornal de Pediatria. 2021;97:S67-S74.
7. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999;93(3):190-7.
8. Conley ME. Genetics of hypogammaglobulinemia: what do we really know? Curr Opin Immunol. 2009;21(5):466-71.
9. Reza Y, Samaneh A, Parisa A, Aida A, Sima B, Maryam B, et al. National Consensus Guideline on Diagnosis and Management of Predominantly Antibody Deficiencies. Immunology and Genetics Journal. 2024;7(2).
10. Donadieu J, Beaupain B, Fenneteau O, Bellanne-Chantelot C. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. Br J Haematol. 2017;179(4):557-74.
11. Min KI, Byeon S. Diagnosis and management of neutropenia. Blood Res. 2025;60(1):30.
12. Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet J Rare Dis. 2011;6(1):26.
13. Fekrvand S, Yazdani R, Abdolahzade S, Ashournia P, Askarisarvestani A, Bahrami S, et al. National Consensus Guideline on Diagnosis and Management of Congenital Neutropenias. Immunology and Genetics Journal. 2024.
14. Song E, Jaishankar GB, Saleh H, Jithpratuck W, Sahni R, Krishnaswamy G. Chronic granulomatous disease: a review of the infectious and inflammatory complications. Clin Mol Allergy. 2011;9(1):10.
15. Staudacher O, von Bernuth H. Clinical presentation, diagnosis, and treatment of chronic granulomatous disease. Front Pediatr. 2024;12:1384550.
16. Justiz-Vaillant AA, Williams-Persad AF, Arozarena-Fundora R, Gopaul D, Soodeen S, Asin-Milan O, et al. Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment. Microorganisms. 2023;11(9):2233.
17. Lugo Reyes SO, Gonzalez Garay A, Gonzalez Bobadilla NY, Rivera Lizarraga DA, Madrigal Paz AC, Medina-Torres EA, et al. Efficacy and Safety of Interferon-Gamma in Chronic Granulomatous Disease: a Systematic Review and Meta-analysis. J Clin Immunol. 2023;43(3):578-84.
18. Delavari S, Yazdani R, Abolhassani H, Salami F, Ashournia P, Askarisarvestani A, et al. National Consensus Guideline on Diagnosis and Management of Chronic Granulomatous Disease. Immunol Genet J. 2025;8(3):258-266.
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| Issue | Vol 9, No 1 (2026) | |
| Section | Letter | |
| DOI | https://doi.org/10.18502/igj.v9i1.21885 | |
| Keywords | ||
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How to Cite
1.
Fekrvand S, Abdolahzade S, Aghajani M, Ahmadi M, Alavi-Moghaddam M, Arshi S, Asarehzadegan Dezfouli M, Asgharyan M, Ashournia P, Askari Sarvestani A, Assari R, Badiee H, Bahrami S, Behfar M, Behniafard N, Choroom Kheirabadi M, Daneshmandi Z, Bemanian MH, Cheraghi T, Darabi K, Darougar S, Ebrahimi S, Eslamian G, Esmaeilbeig M, Fallahpour M, Faraji N, Farzadmanesh S, HajiAbbasi Someesaraie K, Kalantari A, Karimizadeh M, Kaviani E, Mesdaghi M, Marjani M, Modaresi M, Mohammadzadeh I, Movahedi M, Movahedi M, Nabavi M, Norouzi-Barough L, Razaghian A, Shariat M, Seraj S, Seyedi S, Seyedsalehi S, Shafiei A, Shahraki Ghadimi Z, Shakerian B, Sharafian S, Shokri S, Tavakol M, Vosughimotlagh A, Yazdani R, Rezaei N. Treatment of Patients with Inborn Errors of Immunity Should Not Be Postponed until Genetic Confirmation. Immunol Genet J. 2026;9(1):26-28.
