Associated Papers
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
37199216 (PubMed )
Supplement: supplement_1.docx
Ocular findings associated with FADD deficiency resemble familial exudative vitreoretinopathy.
Meer E et al.
American Journal of Ophthalmology Case Reports, 2022
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