Associated Papers
Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).
Casamayor-Polo L et al.
Critical Reviews in Clinical Laboratory Sciences, 2021
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28492532 (PubMed )
Supplement: gim201737x6.docx
Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease.
Nabhani S et al.
Haematologica, 2015
A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome.
Nabhani S et al.
Clinical Immunology (orlando, Fla.), 2014
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