Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations (Q37670054)

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4 March 2020

title

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations (English)

1 reference

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autoimmune lymphoproliferative syndrome

4 March 2020

main subject

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author

Julie E. Niemela

6

1 reference

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4 March 2020

Philip S. Rosenberg

10

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Bernice Lo

13

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4 March 2020

Elaine Jaffe

15

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4 March 2020

11

Jennifer M Puck

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4 March 2020

14

Stefania Pittaluga

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4 March 2020

16

Thomas A Fleisher

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4 March 2020

1

Susan Price

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4 March 2020

5

Joie Davis

1 reference

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4 March 2020

8

Ronald L Hornung

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4 March 2020

author name string

Pamela A Shaw

2

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4 March 2020

Amy Seitz

3

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Gyan Joshi

4

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Katie Perkins

7

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Les Folio

9

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Amy P Hsu

12

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V Koneti Rao

17

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Michael J Lenardo

18

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4 March 2020

language of work or name

English

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publication date

7 January 2014

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4 March 2020

1 reference

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4 March 2020

volume

123

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issue

13

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4 March 2020

page(s)

1989-1999

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Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis

4 March 2020

cites work

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Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia

23 August 2017

1 reference

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23 August 2017

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23 August 2017

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

23 August 2017

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23 August 2017

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

23 August 2017

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23 August 2017

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FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome

23 August 2017

1 reference

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23 August 2017

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APO-1/Fas gene: Structural and functional characteristics in systemic lupus erythematosus and other autoimmune diseases

23 August 2017

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Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

23 August 2017

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The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations

23 August 2017

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

23 August 2017

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

23 August 2017

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ALPS-ten lessons from an international workshop on a genetic disease of apoptosis

23 August 2017

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

23 August 2017

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Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease

23 August 2017

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Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome

23 August 2017

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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 function

23 August 2017

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Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome

23 August 2017

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Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib

23 August 2017

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NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

23 August 2017

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A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.

23 August 2017

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Genetic disorders of programmed cell death in the immune system

23 August 2017

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23 August 2017

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Inherited and acquired death receptor defects in human Autoimmune Lymphoproliferative Syndrome

23 August 2017

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Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome

23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis

23 August 2017

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23 August 2017

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Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations

23 August 2017

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Caspase activation: the induced-proximity model

23 August 2017

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Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II

23 August 2017

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Mature T lymphocyte apoptosis--immune regulation in a dynamic and unpredictable antigenic environment

23 August 2017

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Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.

23 August 2017

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An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome

23 August 2017

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Pathological findings in human autoimmune lymphoproliferative syndrome

23 August 2017

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Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease

23 August 2017

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Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity

23 August 2017

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A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease

23 August 2017

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Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

23 August 2017

1 reference

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Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome

6 September 2017

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Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome

6 September 2017

1 reference

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Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

14 September 2017

1 reference

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Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

27 July 2018

1 reference

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Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3968385

Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis

1 September 2018

1 reference

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Investigation of common variable immunodeficiency patients and healthy individuals using autoimmune lymphoproliferative syndrome biomarkers

1 September 2018

1 reference

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Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3968385

Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis--CT and US features

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24398331

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24398331

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2013-10-535393

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24398331%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24398331%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24398331%20AND%20SRC:MED&resulttype=core&format=json