The genetic landscape of the FAS pathway deficiencies

Clinical, Immunological, and Genetic Features in 780 Patients with Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS‐like diseases: A Systematic Review

(2021) Nasim Hafezi et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Novel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency

(2020) Lisa A. Kohn et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS)

(2020) Laura Casamayor-Polo et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions

(2018) Frédéric Rieux-Laucat et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency

(2018) Anna S. Lehle et al.   GASTROENTEROLOGY

Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression

(2017) Nourhen Agrebi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency

(2016) B. Lo et al.   BLOOD

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

(2016) Christian Klemann et al.   HAEMATOLOGICA

Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation

(2016) Ana Martínez-Feito et al.   IMMUNOBIOLOGY

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

(2016) Christian Klemann et al.   HAEMATOLOGICA

Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS mutation

(2015) G. M. García García et al.   INTERNAL MEDICINE JOURNAL

A new case of Fas-associated death domain protein deficiency and update on treatment outcomes

(2015) Sinisa Savic et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

(2015) Julie Niemela et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation

(2015) Raquel Ruiz-García et al.   PEDIATRIC RESEARCH

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

(2014) A. Rensing-Ehl et al.   BLOOD

Natural history of autoimmune lymphoproliferative syndrome associated withFASgene mutations

(2014) Susan Price et al.   BLOOD

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

(2014) Schafiq Nabhani et al.   CLINICAL IMMUNOLOGY

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

Elevated vitamin B12 levels in autoimmune lymphoproliferative syndrome attributable to elevated haptocorrin in lymphocytes

(2012) Raffick A.R. Bowen et al.   CLINICAL BIOCHEMISTRY

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

(2012) O. Lambotte et al.   HAEMATOLOGICA

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation

(2012) Aude Magerus-Chatinet et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A Missense Mutation in the Extracellular Domain of Fas: The Most Common Change in Argentinean Patients with Autoimmune Lymphoproliferative Syndrome Represents a Founder Effect

(2012) María Gabriela Simesen de Bielke et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation

(2011) B. Neven et al.   BLOOD

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

(2010) K. C. Dowdell et al.   BLOOD

Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

(2010) J. B. Oliveira et al.   BLOOD

Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome

(2010) Iusta Caminha et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

(2010) Aude Magerus-Chatinet et al.   JOURNAL OF CLINICAL INVESTIGATION