Sara Iranparast; Farhad Seif; Sanaz Tayebi; Farhad Abolnezhadian; Moosa Sharifat; Alireza Fazaeli; Neda Roshanravan; Azam Samei; Sholeh Khajoei
Abstract
Follicular helper T (TFH) cells are a subset of effector CD4+ T cells that support the differentiation of antigen-specific B cells in the germinal center. TFH cells are distinct from other established CD4+ T cell subsets and possess a list of transcription factors, including BCL6, IRF4, c-Maf, Batf, ...
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Follicular helper T (TFH) cells are a subset of effector CD4+ T cells that support the differentiation of antigen-specific B cells in the germinal center. TFH cells are distinct from other established CD4+ T cell subsets and possess a list of transcription factors, including BCL6, IRF4, c-Maf, Batf, NFAT1-2, and STAT3. The mentioned factors direct several activities such as cell differentiation, migration to the follicles, cell-to-cell interaction, as well as cell programming. Given that TFH cells are essential for the germinal center formation, affinity maturation and the development of most high-affinity antibodies. TFH cells may play crucial roles in different pathologic conditions, particularly autoimmune diseases. However, the mechanisms that cause functional differences of TFH cell responses are not exactly defined. In this review first the immunological profile of TFH cells will be discussed then attempts will be made to give a broad picture on the role of this key subset of T cells in autoimmune diseases.
Farhad Abolnezhadian; Sara Iranparast; Fatemeh Ahmadpour
Abstract
Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a cause of immunodeficiency. In the current paper, we ...
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Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a cause of immunodeficiency. In the current paper, we reported a case of identical twin brothers with a novel STK4 mutation, one of whom showed clinical manifestations associated with this mutation with a delay of two years. The mutation in the STK4 gene was identified employing Whole Exome Sequencing (WES), and we described the probable reasons for this delay. We found that the STK4 genetic defect caused almost the same clinical symptoms of immunodeficiency in the twin brothers. Meanwhile, the severity of the disease was higher in one of them, which may be due to extra genetic defect in LRBA, and likely differences in the percentage of B lymphocyte population and CD4+/ CD8+ state.
