Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population

Mon Feb 26 04:39:27 2024

(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. p. 12. ISSN 0271-9142

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Abstract

PurposeMajor 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.MethodsWe describe the clinical, immunologic, and genetic features of eighteen unrelated Iranian patients with MHC-II deficiency.ResultsConsanguinity 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.ConclusionMHC-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.

Item Type: Article
Creators:
CreatorsEmail
Khorshidi, M. S. M.UNSPECIFIED
Seeleuthner, Y.UNSPECIFIED
Chavoshzadeh, Z.UNSPECIFIED
Behfar, M.UNSPECIFIED
Hamidieh, A. A.UNSPECIFIED
Alimadadi, H.UNSPECIFIED
Sherkat, R.UNSPECIFIED
Momen, T.UNSPECIFIED
Behniafard, N.UNSPECIFIED
Eskandarzadeh, S.UNSPECIFIED
Mansouri, M.UNSPECIFIED
Behnam, M.UNSPECIFIED
Mahdavi, M.UNSPECIFIED
Zadeh, M. H.UNSPECIFIED
Shokri, M.UNSPECIFIED
Alizadeh, F.UNSPECIFIED
Movahedi, M.UNSPECIFIED
Momenilandi, M.UNSPECIFIED
Keramatipour, M.UNSPECIFIED
Casanova, J. L.UNSPECIFIED
Cobat, A.UNSPECIFIED
Abel, L.UNSPECIFIED
Shahrooei, M.UNSPECIFIED
Parvaneh, N.UNSPECIFIED
Keywords: CD4+lymphocytopenia Hematopoietic stem cell transplantation Inborn error of immunity MHC-II deficiency RFX5 gene RFXANK gene RFXAP gene Founder effect bare lymphocyte syndrome combined immunodeficiency complex disease transplantation expression survival binding promoter domain Immunology
Divisions:
Page Range: p. 12
Journal or Publication Title: Journal of Clinical Immunology
Journal Index: ISI
Identification Number: https://doi.org/10.1007/s10875-023-01562-z
ISSN: 0271-9142
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/4485

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