Associated Papers
Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.
Xu X et al.
Journal of Clinical Immunology, 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 syndrome: A disorder of immune dysregulation.
Paskiewicz A et al.
Autoimmunity Reviews, 2023
Synthetic receptor platform to identify loss-of-function single nucleotide variants and designed mutants in the death receptor Fas/CD95.
Minafra AR et al.
The Journal of Biological Chemistry, 2023
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
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K et al.
Frontiers in Immunology, 2021
34992599 (PubMed )
Supplement: Table_3.xlsx › Blad1
The expanding spectrum of the autoimmune lymphoproliferative syndromes.
Oliveira JB
Current Opinion in Pediatrics, 2013
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.
Neven B et al.
Blood, 2011
Common variable immunodeficiency and hemophagocytic features associated with a FAS gene mutation.
Kuijpers TW et al.
The Journal of Allergy and Clinical Immunology, 2011
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.
Kuehn HS et al.
Journal of Immunology (baltimore, Md. : 1950), 2011
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