Associated Papers
X-linked SCID with a rare mutation.
Mahdavi FS et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2021
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht C et al.
Frontiers in Immunology, 2021
Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.
Belaid B et al.
Frontiers in Immunology, 2021
Mutational landscape of severe combined immunodeficiency patients from Turkey.
Firtina S et al.
International Journal of Immunogenetics, 2020
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A et al.
Clinical and Experimental Immunology, 2020
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Tuovinen EA et al.
Journal of Clinical Immunology, 2020
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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