Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. (Q52597949)

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22 March 2020

title

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis (English)

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32

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James R Lupski

1 reference

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Helen E Heslop

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Richard A Gibbs

1 reference

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Donna M Muzny

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22 March 2020

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Sean A McGhee

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Luis A Pedroza

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22 March 2020

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Asbjørg Stray-Pedersen

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object named as

Asbjørg Stray-Pedersen

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22 March 2020

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Ivan K Chinn

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22 March 2020

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Harshal A Abhyankar

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22 March 2020

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Olive S Eckstein

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Erin C Peckham-Gregory

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Baruch R Goldberg

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Lisa R Forbes

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Sarah K Nicholas

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22 March 2020

Emily M Mace

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Tiphanie P Vogel

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Maria I Diaz

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22 March 2020

Robert A Krance

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Caridad A Martinez

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Trung C Nguyen

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Dalia A Bashir

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Jordana R Goldman

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22 March 2020

M Cecilia Poli

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Waleed Al-Herz

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Aghiad Chamdin

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Zeynep H Coban-Akdemir

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Shalini N Jhangiani

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Tram N Cao

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Diana N Hong

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Jordan S Orange

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Carl E Allen

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22 March 2020

Juan C Aldave-Becerra

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22 March 2020

language of work or name

English

0 references

publication date

9 April 2018

1 reference

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22 March 2020

number of pages

12

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inferred from page(s)

published in

Blood

1 reference

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22 March 2020

volume

132

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22 March 2020

page(s)

89-100

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22 March 2020

issue

1

1 reference

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Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.

22 March 2020

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25 August 2018

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25 August 2018

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MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.

25 August 2018

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25 August 2018

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25 August 2018

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JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities

25 August 2018

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Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.

25 August 2018

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Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion

25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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Secondary hemophagocytic lymphohistiocytosis and severe sepsis/ systemic inflammatory response syndrome/multiorgan dysfunction syndrome/macrophage activation syndrome share common intermediate phenotypes on a spectrum of inflammation

25 August 2018

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Mutations in NALP12 cause hereditary periodic fever syndromes

25 August 2018

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25 August 2018

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Familial haemophagocytic reticulosis

25 August 2018

1 reference

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Epstein-Barr virus-associated haemophagocytic lymphohistiocytosis in Wiskott-Aldrich syndrome

25 August 2018

1 reference

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Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation

25 August 2018

1 reference

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Requirement for etoposide in the treatment of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis

25 August 2018

1 reference

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Familial hemophagocytic lymphohistiocytosis. Clinical review based on the findings in seven children

25 August 2018

1 reference

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Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea

25 August 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6034641

2 November 2018

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Familial hemophagocytic lymphohistiocytosis

30 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29632024

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29632024

12 December 2020

inferred from PubMed ID database lookup

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29632024

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1182/BLOOD-2017-11-814244

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29632024%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29632024%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference