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
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
Immunotherapy responsive neuroinflammation in a child with FAS-associated death-domain mutation.
Vogel B et al.
Clinical Genetics, 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
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