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Toplam kayıt 6, listelenen: 1-6
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 ...
Additional Diverse Findings Expand The Clinical Presentation of Dock8 Deficiency
(Springer/Plenum Publishers, 2012)
We describe seven Turkish children with DOCK8 deficiency who have not been previously reported. Three patients presented with typical features of recurrent or severe cutaneous viral infections, atopic dermatitis, and ...
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 ...
Recurrent Viral Infections Associated with a Homozygous Coro1A Mutation That Disrupts Oligomerization and Cytoskeletal Association
(Mosby-Elsevier, 2016)
Background: Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T-B+ natural killer-positive severe combined immunodeficiency or T-cell lymphopenia with severe ...
Clinical Features Of Candidiasis In Patients With Inherited Interleukin 12 Receptor Beta 1 Deficiency
(Oxford Univ Press, 2014)
Background. Interleukin 12R beta 1 (IL-12R beta 1)-deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin ...