(Q51040962)

27 March 2018

title

Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation. (English)

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27 March 2018

hemophagocytic lymphohistiocytosis

main subject

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Jennifer R Holle

1

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27 March 2018

Rebecca A Marsh

2

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27 March 2018

Anna Maria Holdcroft

3

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27 March 2018

Stella M Davies

4

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27 March 2018

Lijun Wang

5

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27 March 2018

Kejian Zhang

6

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27 March 2018

Michael B Jordan

7

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27 March 2018

publication date

19 March 2015

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27 March 2018

published in

Pediatric Blood Cancer

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27 March 2018

volume

62

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27 March 2018

issue

7

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27 March 2018

page(s)

1288-1290

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27 March 2018

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

cites work

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XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

21 January 2018

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XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

21 January 2018

1 reference

Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation

21 January 2018

1 reference

Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 January 2018

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Forty years of decoding the silence in X-chromosome inactivation

21 January 2018

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A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

21 January 2018

1 reference

X Inactivation in Females with X-Linked Disease

21 January 2018

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X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoies

21 January 2018

1 reference

A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency

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

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21 January 2018

Identifiers

DOI

10.1002/PBC.25483

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27 March 2018

release_lsziwrnhijeojaszucehkmahde

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/lsziwrnhijeojaszucehkmahde

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

27 March 2018