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

scientific article published on 31 July 2012

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.JACI.2012.06.011
P932PMC publication ID3824280
P698PubMed publication ID22857792

P50authorAlain FischerQ2636403
Capucine PicardQ30503757
Frédéric Rieux-LaucatQ37645087
Aude Magerus-ChatinetQ42325098
Marie-Claude StolzenbergQ45929155
Bénédicte NevenQ89742464
Nina LanzarottiQ114516795
Cécile DaussyQ114516801
Nathalie NeveuxQ114516802
P2093author name stringKanjaksha Ghosh
Manisha Madkaikar
Mukesh Desai
Meghana Rao
P2860cites workUsing biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndromeQ24623046
Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative diseaseQ28115268
Autoimmune lymphoproliferative syndrome with somatic Fas mutationsQ28285625
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of functionQ28307801
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type IbQ33289658
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunityQ33488225
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosisQ33952333
The many roles of FAS receptor signaling in the immune systemQ34205697
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetranceQ34389314
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulationQ34428954
Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotypeQ34513178
Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathwaysQ35091428
Fas receptor expression in germinal-center B cells is essential for T and B lymphocyte homeostasisQ36314636
A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.Q36454970
Fas and Fas ligand: lpr and gld mutationsQ40398275
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosisQ44455328
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndromeQ55670225
Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytesQ57014792
Chronic lymphadenopathy simulating malignant lymphomaQ59242110
Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expressionQ73850215
TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesisQ74401877
Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorderQ74418696
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectautoimmune lymphoproliferative syndromeQ1151300
homozygosityQ114049690
P1104number of pages5
P304page(s)486-490
P577publication date2012-07-31
P1433published inThe Journal of Allergy and Clinical ImmunologyQ7743550
P1476titleAutoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation
P478volume131

Reverse relations

cites work (P2860)
Q48283620A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats
Q27027001Advances in basic and clinical immunology in 2013
Q55297581Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation.
Q41428240Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation.
Q36708937Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease
Q55284675Fas Ligand localizes to intraluminal vesicles within NK cell cytolytic granules and is enriched at the immune synapse.
Q92758747Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?
Q38641601Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand.
Q38934946Serine protease inhibitors interact with IFN-γ through up-regulation of FasR; a novel therapeutic strategy against cancer.
Q57078448The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions
Q64882605The Role of Efferocytosis in Autoimmune Diseases.
Q35619447The expanding spectrum of the autoimmune lymphoproliferative syndromes

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