Ara
Toplam kayıt 13, listelenen: 1-10
IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
(Wiley, 2013)
IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12R1 is a receptor chain of ...
Isg15 Deficiency and Increased Viral Resistance in Humans but Not Mice
(2016)
ISG15 is an interferon (IFN)-α/β-induced ubiquitin-like protein. It exists as a free molecule, intracellularly and extracellularly, and conjugated to target proteins. Studies in mice have demonstrated a role for Isg15 in ...
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 ...
Defective Pneumococcal Antibody Response In Patients With Recurrent Respiratory Tract Infections
(Turkish J Pediatrics, 2017)
Streptococcus pneumoniae is a common pathogen responsible for pulmonary infections and the leading cause of mortality and morbidity in patients with particularly B cell immunodeficiencies. Antibody production is the principal ...
Clinical And Genetic Features Of Il12R Beta 1 Deficiency: Single Center Experience Of 18 Patients
(Turkish J Pediatrics, 2016)
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by infections with weakly virulent mycobacteria (BCG and environmental mycobacteria), M. tuberculosis, Salmonella, candida and some other intracellular ...
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 ...
Rasgrp1 Deficiency Causes Immunodeficiency With Impaired Cytoskeletal Dynamics
(Nature Publishing Group, 2016)
RASGRP1 is an important guanine nucleotide exchange factor and activator of the RAS-MAPK pathway following T cell antigen receptor (TCR) signaling. The consequences of RASGRP1 mutations in humans are unknown. In a patient ...
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 ...