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Hematopoietic stem cell transplantation in CD40 ligand deficiency: a single-center experience
(Wiley, 2020)
Deficiency of the CD40L, expressed on the surface of T lymphocytes, is caused by mutations in the glycoproteinCD40L (CD154)gene. Resulting defective humoral and cellular responses cause a clinical presentation that includes ...
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 ...
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 ...
