Article

Clinical, immunological, and genetic findings in Iranian patients with MHC-II deficiency: confirmation of c.121delG RFXANK founder mutation in the Iranian population

2023-04-11

Abstract excerpt

<title>Abstract</title> <p><bold>Purpose:</bold> 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. Patients typically present with severe respiratory and gastrointestinal tract infections at early ages. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy...

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Literature Corpus work: addd206d-b5c5-5964-9cf1-24d81f44d01c
DOI: 10.21203/rs.3.rs-2726912/v1

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