Clinical, Immunological, and Genetic Findings in Iranian Patients With Mhc-Ii Deficiency: Confirmation of C.162Delg Rfxank Founder Mutation in the Iranian Population

Clinical, Immunological, and Genetic Findings in Iranian Patients With Mhc-Ii Deficiency: Confirmation of C.162Delg Rfxank Founder Mutation in the Iranian Population Publisher Pubmed

Mousavi Khorshidi MS¹ ; Seeleuthner Y^{2, 3} ; Chavoshzadeh Z⁴ ; Behfar M^{5, 6} ; Hamidieh AA^{5, 6} ; Alimadadi H⁷ ; Sherkat R⁸ ; Momen T⁹ ; Behniafard N^{10, 11} ; Eskandarzadeh S¹² ; Mansouri M⁴ ; Behnam M^{13, 14} ; Mahdavi M¹ ; Heydarazad Zadeh M⁴ Show All Authors

Mousavi Khorshidi MS¹
Seeleuthner Y^{2, 3}
Chavoshzadeh Z⁴
Behfar M^{5, 6}
Hamidieh AA^{5, 6}
Alimadadi H⁷
Sherkat R⁸
Momen T⁹
Behniafard N^{10, 11}
Eskandarzadeh S¹²
Mansouri M⁴
Behnam M^{13, 14}
Mahdavi M¹
Heydarazad Zadeh M⁴
Shokri M¹⁵
Alizadeh F¹
Movahedi M¹
Momenilandi M^{2, 3}
Keramatipour M¹⁶
Casanova JL^{2, 3, 17}
Cobat A^{2, 3, 17}
Abel L^{2, 3, 17}
Shahrooei M^{14, 18}
Parvaneh N^{1, 19}

Show Affiliations

1. Division of Allergy and Clinical Immunology, Department of Pediatrics, Childrenâ€™s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
2. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France
3. Imagine Institute, University Paris Cite, Paris, France
4. Allergy and Immunology Department, Mofid Childrenâ€™s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
5. Pediatric Cell and Gene Therapy Research Center, Gene, Cell & Tissue Research Institute, Tehran University of Medical Sciences, Tehran, Iran
6. Childrenâ€™s Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
7. Division of Gastroenterology, Department of Pediatrics, Childrenâ€™s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
8. Immunodeficiency Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
9. Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
10. Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
11. Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
12. Allergy and Clinical Immunology Department, Tabriz University of Medical Sciences, Tabriz, Iran
13. Student Research Committee, Semnan University of Medical Sciences, Semnan, Iran
14. Dr. Shahrooei Lab, 22 Bahman St., Ashrafi Esfahani Blvd, Tehran, Iran
15. Department of Pediatrics, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran
16. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
17. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, United States
18. Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Louvain, Belgium
19. Childrenâ€™s Medical Centre, No 62 Gharib St, Tehran, 1419733152, Iran

Source: Journal of Clinical Immunology Published:2023

Abstract

Purpose: Major histocompatibility complex class II (MHC-II) deficiency is a rare inborn error of immunity (IEI). Impaired antigen presentation to CD4 + T cells results in combined immunodeficiency (CID). Patients typically present with severe respiratory and gastrointestinal tract infections at early ages. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy. Methods: We describe the clinical, immunologic, and genetic features of eighteen unrelated Iranian patients with MHC-II deficiency. Results: Consanguinity was present in all affected families. The median age at the initial presentation was 5.5 months (range 7 days to 18 years). The main symptoms included failure to thrive, persistent diarrhea, and pneumonia. Autoimmune and neurologic features were also documented in about one-third of the patients, respectively. Thirteen patients carried RFXANK gene mutations, two carried RFX5 gene mutations, and three carried a RFXAP gene mutation. Six patients shared the same RFXANK founder mutation (c.162delG); limited to the Iranian population and dated to approximately 1296 years ago. Four of the patients underwent HSCT; three of them are alive. On the other hand, nine of the fourteen patients who did not undergo HSCT had a poor prognosis and died. Conclusion: MHC-II deficiency is not rare in Iran, with a high rate of consanguinity. It should be considered in the differential diagnosis of CID at any age. With the limited access to HSCT and its variable results in MHC-II deficiency, implementing genetic counseling and family planning for the affected families are mandatory. We are better determined to study the c.162delG RFXANK heterozygous mutation frequency in the Iranian population. © 2023, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

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Style	Citing Format
MLA	Mousavi Khorshidi MS, et al.. "Clinical, Immunological, and Genetic Findings in Iranian Patients With Mhc-Ii Deficiency: Confirmation of C.162Delg Rfxank Founder Mutation in the Iranian Population." Journal of Clinical Immunology, vol. 43, no. 8, 2023, pp. 1941-1952.
APA	Mousavi Khorshidi MS, Seeleuthner Y, Chavoshzadeh Z, Behfar M, Hamidieh AA, Alimadadi H, Sherkat R, Momen T, Behniafard N, Eskandarzadeh S, Mansouri M, Behnam M, Mahdavi M, Heydarazad Zadeh M, Shokri M, Alizadeh F, Movahedi M, Momenilandi M, Keramatipour M, ... Parvaneh N (2023). Clinical, Immunological, and Genetic Findings in Iranian Patients With Mhc-Ii Deficiency: Confirmation of C.162Delg Rfxank Founder Mutation in the Iranian Population. Journal of Clinical Immunology, 43(8), 1941-1952.
Chicago	Mousavi Khorshidi MS, Seeleuthner Y, Chavoshzadeh Z, Behfar M, Hamidieh AA, Alimadadi H, Sherkat R, et al.. "Clinical, Immunological, and Genetic Findings in Iranian Patients With Mhc-Ii Deficiency: Confirmation of C.162Delg Rfxank Founder Mutation in the Iranian Population." Journal of Clinical Immunology 43, no. 8 (2023): 1941-1952.
Harvard	Mousavi Khorshidi MS et al. (2023) 'Clinical, Immunological, and Genetic Findings in Iranian Patients With Mhc-Ii Deficiency: Confirmation of C.162Delg Rfxank Founder Mutation in the Iranian Population', Journal of Clinical Immunology, 43(8), pp. 1941-1952.
Vancouver	Mousavi Khorshidi MS, Seeleuthner Y, Chavoshzadeh Z, Behfar M, Hamidieh AA, Alimadadi H, et al.. Clinical, Immunological, and Genetic Findings in Iranian Patients With Mhc-Ii Deficiency: Confirmation of C.162Delg Rfxank Founder Mutation in the Iranian Population. Journal of Clinical Immunology. 2023;43(8):1941-1952.
BibTex	@article{ author = {Mousavi Khorshidi MS and Seeleuthner Y and Chavoshzadeh Z and Behfar M and Hamidieh AA and Alimadadi H and Sherkat R and Momen T and Behniafard N and Eskandarzadeh S and Mansouri M and Behnam M and Mahdavi M and Heydarazad Zadeh M and Shokri M and Alizadeh F and Movahedi M and Momenilandi M and Keramatipour M and Casanova JL and Cobat A and Abel L and Shahrooei M and Parvaneh N}, title = {Clinical, Immunological, and Genetic Findings in Iranian Patients With Mhc-Ii Deficiency: Confirmation of C.162Delg Rfxank Founder Mutation in the Iranian Population}, journal = {Journal of Clinical Immunology}, volume = {43}, number = {8}, pages = {1941-1952}, year = {2023} }
RIS	TY - JOUR AU - Mousavi Khorshidi MS AU - Seeleuthner Y AU - Chavoshzadeh Z AU - Behfar M AU - Hamidieh AA AU - Alimadadi H AU - Sherkat R AU - Momen T AU - Behniafard N AU - Eskandarzadeh S AU - Mansouri M AU - Behnam M AU - Mahdavi M AU - Heydarazad Zadeh M AU - Shokri M AU - Alizadeh F AU - Movahedi M AU - Momenilandi M AU - Keramatipour M AU - Casanova JL AU - Cobat A AU - Abel L AU - Shahrooei M AU - Parvaneh N TI - Clinical, Immunological, and Genetic Findings in Iranian Patients With Mhc-Ii Deficiency: Confirmation of C.162Delg Rfxank Founder Mutation in the Iranian Population JO - Journal of Clinical Immunology VL - 43 IS - 8 SP - 1941 EP - 1952 PY - 2023 ER -

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