Article
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 - 1 Nov 2023
Mousavi Khorshidi Mohadese Sadat, Seeleuthner Yoann, Chavoshzadeh Zahra, Behfar Maryam, Hamidieh Amir Ali, Alimadadi Hosein, Sherkat Roya, Momen Tooba, Behniafard Nasrin, Eskandarzadeh Shabnam, Mansouri Mahboubeh, Behnam Mahdiyeh, Mahdavi Mohadese, Heydarazad Zadeh Maryam, Shokri Mehdi, Alizadeh Fatemeh, Movahedi Mahshid, Momenilandi Mana, Keramatipour Mohammad, Casanova Jean-Laurent, Cobat Aurélie, Abel Laurent, Shahrooei Mohammad, Parvaneh Nima
Abstract excerpt
PURPOSE: 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 (CID). 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...
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