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Genetic screening of the patients with primary immunodeficiency by whole-exome sequencing
(New Rochelle, 2020)
Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of congenital disorders characterized by susceptibility to recurrent infections, allergy, malignancies and autoimmunity. The identification of ...
Lymphoma predisposing gene in an extended family: CD70 signaling defect
(Springer/Plenum Publishers, 2020)
Genome-wide sequencing studies in pediatric cancer cohorts indicate that about 10% of patients have germline mutations within cancer predisposition genes. Within this group, primary immune deficiencies take the priority ...
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
(2020)
Biallelic mutations in the genes encoding CD27 or its ligand CD70 underlie inborn errors of immunity characterized predominantly by EBV-associated immune dysregulation, such as chronic viremia, severe infectious mononucleosis, ...
ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients
(Wiley, 2020)
BackgroundDedicator of cytokinesis 8 (DOCK8) deficiency is the main cause of the autosomal recessive hyper-IgE syndrome (HIES). We previously reported the selective loss of group 3 innate lymphoid cell (ILC) number and ...
Invasive saprochaete capitata Infection in a patient with autosomal recessive CARD9 deficiency and a review of the literature
(Springer/Plenum Publishers, 2020)
Purpose Autosomal recessive (AR) CARD9 deficiency is an inherited immune disorder which results in impaired innate immunity against various fungi. Superficial and invasive fungal infections, mainly caused by Candida or ...
Mutational landscape of severe combined immunodeficiency patients from Turkey
(Wiley, 2020)
Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation ...
