Associated Papers
FADD gene pathogenic variants causing recurrent febrile infection-related epilepsy syndrome: Case report and literature review.
Giovannini G et al.
Epilepsia, 2024
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
Pellé O et al.
The Journal of Allergy and Clinical Immunology, 2024
Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders.
Magerus A et al.
The Journal of Allergy and Clinical Immunology, 2024
Expanding the clinical phenotype of FADD deficiency with a novel mutation and its role in Fas-mediated apoptotic pathway.
Setia P et al.
British Journal of Haematology, 2023
Ocular findings associated with FADD deficiency resemble familial exudative vitreoretinopathy.
Meer E et al.
American Journal of Ophthalmology Case Reports, 2022
Novel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency.
Kohn LA et al.
Journal of Clinical Immunology, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.
Rieux-Laucat F et al.
Journal of Clinical Immunology, 2018
A new case of Fas-associated death domain protein deficiency and update on treatment outcomes.
Savic S et al.
The Journal of Allergy and Clinical Immunology, 2015
The expanding spectrum of the autoimmune lymphoproliferative syndromes.
Oliveira JB
Current Opinion in Pediatrics, 2013
Revisiting Mendelian disorders through exome sequencing.
Ku CS et al.
Human Genetics, 2011
Whole-exome-sequencing-based discovery of human FADD deficiency.
Bolze A et al.
American Journal of Human Genetics, 2010
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