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

Cai, Yu Qing; Zhang, Hang-Hu; Wang, Xiang Zhi; Xu, Chengyun; Chao, Yun Qi; Shu, Yingying; Tang, Lan

doi:10.1093/ofid/ofaa314

Cited by 6 publications

(1 citation statement)

References 57 publications

(46 reference statements)

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“…MHC-II de ciency is rare; most patients are reported from North Africa (15,16,17,18,19,20). The remaining patients are occasionally reported from other nationalities (21,22,23,24,25).…”

Section: Introductionmentioning

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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“…MHC-II de ciency is rare; most patients are reported from North Africa (15,16,17,18,19,20). The remaining patients are occasionally reported from other nationalities (21,22,23,24,25).…”

Section: Introductionmentioning

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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Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis

Alroqi,

Alhezam,

Almojali

et al. 2024

J Clin Immunol

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Purpose Major histocompatibility complex (MHC) class II deficiency is one of the combined immune deficiency disorders caused by defects in the MHC class II regulatory genes leading to abnormal T cells development and function. Therefore, patients mainly present with increased susceptibility to infections, diarrhea, and failure to thrive. In this report, we present one MHC class II deficient patient with a novel presentation with Hemophagocytic Lymphohistiocytosis (HLH). Methods Immunophenotyping of lymphocyte subpopulations and HLA-DR expression was assess by flow cytometry. Gene mutational analysis was performed by whole exome and Sanger sequencing. Results We reported a 7-year-old girl, who was diagnosed at age of 2 years with MHC class II deficiency by genetic testing and flow cytometry. Two years later, she developed disseminated BCGitis which was treated with proper antimicrobial agents. At the age of 7 years, she presented with clinical features fulfilling 6 diagnostic criteria of HLH including evidence of hemophagocytic activity in bone marrow aspiration. Accordingly, the diagnosis of HLH was established and the patient was started on IV Dexamethasone, Anakinra and IVIG. Eventually, patient started to improve and was discharged in good condition. Few months later, the patient was readmitted with severe pneumonia and sepsis leading to death. Conclusion Patients with MHC class II deficiency might present with disseminated BCGitis especially if the patient has severe T cell lymphopenia. Additionally, this immune defect might be added to the list of inborn errors of immunity that can be complicated with HLH.

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New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency

Li,

Lu,

Luo

2024

Immunol Res

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

Cited by 6 publications

References 57 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

Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis

New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency

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