(Q51048172)

English

A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

scientific article published on 7 March 2015

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

hemophagocytic lymphohistiocytosis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Kenichi Yoshida

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Hirokazu Kanegane

17

object named as

Hirokazu Kanegane

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

Xi Yang

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Akihiro Hoshino

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Takashi Taga

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Tomoaki Kunitsu

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Yuhachi Ikeda

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Takahiro Yasumi

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Taizo Wada

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Kunio Miyake

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Takeo Kubota

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Hideki Muramatsu

12

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Yuichi Adachi

13

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Satoru Miyano

14

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Seishi Ogawa

15

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Seiji Kojima

16

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

publication date

7 March 2015

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Journal of Clinical Immunology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

35

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

244-248

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

https://scigraph.springernature.com/pub.10.1007/s10875-015-0144-6

0 references

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

X chromosome inactivation in clinical practice

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

ACTN1 mutations cause congenital macrothrombocytopenia

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

Clinical and genetic characteristics of XIAP deficiency in Japan

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

Adult onset X-linked chronic granulomatous disease in a woman patient caused by a de novo mutation in paternal-origin CYBB gene and skewed inactivation of normal maternal X chromosome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

XIAP mediates NOD signaling via interaction with RIP2

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0144-6

21 January 2018

Familial and acquired hemophagocytic lymphohistiocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25744037

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25744037

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked Wiskott-Aldrich syndrome in a girl

1 reference

https://pubmed.ncbi.nlm.nih.gov/25744037

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10875-015-0144-6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25744037%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q51048172&oldid=2042118674"