ArticleJournal of clinical immunology2023
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.
Article in Journal of clinical immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases.BMC immunology · 2025Pooled it
- STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy.Journal of human immunity · 2026Article
- Identification of a putative founder effect involving the HACE1:c.1396C>T variant in two Iranian families and review of reported cases.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Clinical, immunological, treatment characteristics, and outcomes in 22 patients with major histocompatibility complex class II deficiency.Frontiers in immunology · 2026Article
- Major histocompatibility complex class II deficiency in Morocco: a 26-year retrospective cohort study.Frontiers in immunology · 2026Article
- Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons.PLoS genetics · 2025Article
- Case Report: A novel CIITA mutation causing MHC class II deficiency: first reported case in Morocco.Frontiers in immunology · 2025Article
- Major Histocompatibility Complex Class II Deficiency Beyond Infancy.Case reports in immunology · 2025Article
- New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency.Immunologic research · 2024Article
- FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.Cell · 2024Article
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Authors and funding
24 authors at 10 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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