MHC Class II Deficiency with Normal CD4+ T Cell Counts:  A Case Report

Abolnezhadian, Farhad; Saeedi-Boroujeni, Ali; Iranparast, Sara

doi:10.18502/ijaai.v17i6.624

Cited by 5 publications

(4 citation statements)

References 14 publications

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“…We report on 18 Iranian MHC-II de cient unrelated patients in this case series. Thirteen patients are new, and ve have been reported previously (26,27,28,29,30). Informed consent for participating in the study was obtained from the patients or their parents.…”

Section: Methodsmentioning

confidence: 99%

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

et al. 2023

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Purpose: Major histocompatibility complex class II (MHC-II) de ciency is a rare inborn error of immunity (IEI). Impaired antigen presentation to CD4+ T-cells results in combined immunode ciency. 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 de ciency.Results: Consanguinity was present in all affected families. The median age at the initial presentation was 5.5 months (range seven days to 18 years). The main symptoms included failure to thrive, persistent diarrhea, and pneumonia. Autoimmune and neurologic features were documented in 30% 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 1,296 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 combined immunode ciency (CID) at any age. With the limited access to HSCT and its variable results in MHC-II de ciency, implementing genetic counseling and family planning for the affected families are mandatory. We better determined the c.162delG RFXANKheterozygous mutation frequency in the Iranian population.

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Section: Methodsmentioning

confidence: 99%

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

et al. 2023

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“…MHC II deficiency is divided into 4 groups, groups A to D, which are CIITA, RFXANK, RFX5, and RFXAP, respectively [ 4 ]. Group B MHC II deficiency is the most common, with more than half of the patients [ 11 ]. Besides the RFXANK gene mutation, most MHC II deficiency patients present with the context of consanguinity or ethnically similar communities, the majority in North Africa [ 12 ].…”

Section: Literature Reviewmentioning

confidence: 99%

A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review

Cai

Zhang

Wang

et al. 2020

Open Forum Infectious Diseases

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Major histocompatibility complex (MHC) II deficiency is a rare primary immunodeficiency disorder which is characterized by the deficiency of MHC class II molecules. The disease is caused by transcription factor mutations including class II transactivator (CIITA), regulatory factor X-5 (RFX5), RFX associated protein (RFXAP) and RFXAP containing ankyrin repeat (RFXANK), respectively. Mutations in the RFXANK gene account for more than 70% of all known patients worldwide. Herein, we reported a 10-month-old boy with MHC II deficiency caused by a novel mutation in RFXANK gene (c.337+1G>C) The boy was admitted to the hospital due to pneumonia and diarrhea at four months of age. Genetic analysis revealed a novel homozygous mutation in the RFXANK gene which derived from the c.337+1G>C heterozygous mutations in the RFXANK gene of his parents. The boy died 3 months after the diagnosis. More than 200 cases have been reported; and literature review revealed different mutation rates of four transcription factors in different countries or regions. This is the first case report of MHC II deficiency from East Asia. We also described all gene mutations which causing MHC II deficiency and epidemiology of MHC II deficiency with gene mutations in this paper.

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“…The discrepancy between these conclusions may lie within an inability to distinguish survival from proliferation, thymic output versus peripheral T cell survival, or the subtype of peripheral T cells analyzed (for example, naïve versus memory) ( 2 , 8 ). Even in the complete absence of MHC class II molecules, in both mice and humans, peripheral T cells can be maintained for prolonged times ( 9 , 10 ), raising the possibility of the existence of alternative mechanisms regulating naïve T cell survival.…”

Section: Introductionmentioning

confidence: 99%

Suppression of caspase 8 activity by a coronin 1–PI3Kδ pathway promotes T cell survival independently of TCR and IL-7 signaling

et al. 2021

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MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case Report

Cited by 5 publications

References 14 publications

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

A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review

Suppression of caspase 8 activity by a coronin 1–PI3Kδ pathway promotes T cell survival independently of TCR and IL-7 signaling

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