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IRF4 is a transcription factor belonging to the Interferon Regulatory Factor (IRF) family of transcription factors. [8] [9] In contrast to some other IRF family members, IRF4 expression is not initiated by interferons; rather, IRF4 expression is promoted by a variety of bioactive stimuli, including antigen receptor engagement, lipopolysaccharide (LPS), IL-4, and CD40.
For instance, the remaining parts of the interferon regulatory factor sequence vary depending on the precise function of the protein. [2] The Kaposi sarcoma herpesvirus, KSHV, [4] is a cancer virus that encodes four different IRF-like genes; [5] including vIRF1, [6] which is a transforming oncoprotein that inhibits type 1 interferon activity. [7]
For ICF patients the most diffused therapy consists of repeated intravenous infusions of immunoglobulins for the patients entire lifespan. In 2007, Gennery et al. cured the humoral and cellular immunological defect in three ICF1 patients by hematopoietic stem cell transplantation (HSCT).
The mutation in CXCR4 increases signaling because it disrupts negative regulatory elements usually present, creating exaggerated functions of the receptor. The term "WHIM" is an acronym for the main manifestations of the disease: warts, hypogammaglobulinemia, recurrent infections, and myelokathexis .
[3] [4] [5] CD49b belongs to the integrin family and is a receptor for many (extracellular) matrix and non-matrix molecules. CD49b provides only little contribution to the differentiation and function of Tr1 cells. [3] They characteristically produce high levels of IL-10, IFN-γ, IL-5 and also TGF- β but neither IL-4 nor IL-2. [6]
[4] Autoimmune urticaria: Skin IgG against IgE or IgE receptor: Probable Not well established [5] [6] Bullous pemphigoid: Skin Anti-BP180, Anti-BP230 Confirmed 6-30 per 100,000 (mostly older adults) [7] Cicatricial pemphigoid: Mucous membranes, sometimes skin Anti-BP180, Anti-BP230 Confirmed Rare [8] Dermatitis herpetiformis: Skin Anti-tissue ...
Common variable immunodeficiency; Specialty: Immunology : Symptoms: Hypogammaglobulinemia, recurrent opportunistic infections, fatigue: Complications: Autoimmune manifestations; increased risk of malignancies such as gastric carcinomas, non-Hodgkin lymphoma; lymphocytic infiltration of tissues; nodular regenerative hyperplasia; enteropathy
PRDM1/BLIMP-1 is a master transcription factor regulating downstream cytokines. It is activated by TLRs and IRF-4, and is crucial in T cell, B cell, and myeloid lineage cell differentiations.