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Cvid Associated With Systemic Amyloidosis
(2015)
Common variable immunodeficiency (CVID) is a frequent primary immune deficiency (PID), which consists of a heterogeneous group of disorders and can present with recurrent infections, chronic diarrhea, autoimmunity, chronic ...
Functional Analysis Of Naturally Occurring Dclre1C Mutations And Correlation With The Clinical Phenotype Of Artemis Deficiency
(Mosby-Elsevier, 2015)
Background: The endonuclease ARTEMIS, which is encoded by the DCLRE1C gene, is a component of the nonhomologous end-joining pathway and participates in hairpin opening during the V(D)J recombination process and repair of ...
Human Intracellular Isg15 Prevents Interferon-Alpha/Beta Over-Amplification And Auto-Inflammation
(Nature Publishing Group, 2015)
Intracellular ISG15 is an interferon (IFN)-alpha/beta-inducible ubiquitin-like modifier which can covalently bind other proteins in a process called ISGylation; it is an effector of IFN-alpha/beta-dependent antiviral ...
The Extended Clinical Phenotype of 64 Patients with Dedicator of Cytokinesis 8 Deficiency
(Mosby-Elsevier, 2015)
Background: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical ...