(Q41103699)

26 September 2017

title

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations (English)

1 reference

26 September 2017

12

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14 June 2020

Bianca Tesi

1

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14 June 2020

Samuel C Chiang

2

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14 June 2020

João Silva

8

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14 June 2020

Magnus Nordenskjöld

11

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14 June 2020

Jan-Inge Henter

13

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14 June 2020

10

Sule Unal

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14 June 2020

author name string

Dalia El-Ghoneimy

3

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14 June 2020

Ayad Ahmed Hussein

4

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14 June 2020

Cecilia Langenskiöld

5

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14 June 2020

Rabia Wali

6

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14 June 2020

Zehra Fadoo

7

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14 June 2020

Ramón Lecumberri

9

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14 June 2020

Marie Meeths

14

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14 June 2020

publication date

16 July 2015

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26 September 2017

published in

Pediatric Blood & Cancer

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14 June 2020

volume

62

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14 June 2020

issue

12

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14 June 2020

page(s)

2094-2100

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The structural basis for membrane binding and pore formation by lymphocyte perforin

14 June 2020

cites work

1 reference

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules

21 January 2018

1 reference

HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

21 January 2018

1 reference

Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning

21 January 2018

1 reference

Perforin-mediated target-cell death and immune homeostasis

21 January 2018

1 reference

Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer

21 January 2018

1 reference

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

21 January 2018

1 reference

A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency

21 January 2018

1 reference

Atypical features of familial hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

21 January 2018

1 reference

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

21 January 2018

1 reference

Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation

21 January 2018

1 reference

A proportion of patients with lymphoma may harbor mutations of the perforin gene.

21 January 2018

1 reference

Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.

21 January 2018

1 reference

Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma

21 January 2018

1 reference

Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis

21 January 2018

1 reference

CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms

21 January 2018

1 reference

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

21 January 2018

1 reference

Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.

21 January 2018

1 reference

Defining the roles of perforin, Fas/FasL, and tumour necrosis factor alpha in T cell induced mucosal damage in the mouse intestine

21 January 2018

1 reference

Perforin deficiency attenuates inflammation and tumor growth in colitis-associated cancer.

21 January 2018

1 reference

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

21 January 2018

1 reference

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

21 January 2018

1 reference

A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype

21 January 2018

1 reference

Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function

21 January 2018

1 reference

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/PBC.25646

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26184781%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

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