(Q38237995)

English

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review

scientific article published on 08 August 2014

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

severe combined immunodeficiency

1 reference

based on heuristic

inferred from title

pyoderma gangrenosum

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Siobhan O Burns

object named as

Siobhan O Burns

7

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Kimberly Gilmour

3

object named as

Kimberly Gilmour

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

author name string

Turkan Patiroglu

1

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

H Haluk Akar

2

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

M Akif Ozdemir

4

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

Shahnaz Bibi

5

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

Frances Henriquez

6

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

Ekrem Unal

8

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

publication date

8 August 2014

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

Journal of Clinical Immunology

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

34

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31 August 2017

7

1 reference

Europe PubMed Central

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31 August 2017

792-795

1 reference

Europe PubMed Central

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31 August 2017

https://scigraph.springernature.com/pub.10.1007/s10875-014-0077-5

0 references

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

RAG mutations in human B cell-negative SCID.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

RAG-dependent primary immunodeficiencies.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

Autoimmunity, autoinflammation and lymphoma in combined immunodeficiency (CID).

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

Autoinflammatory diseases as cause of wound healing defects

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

1 reference

https://api.crossref.org/works/10.1007%2FS10875-014-0077-5

21 January 2018

Screening for severe combined immunodeficiency in neonates

1 reference

https://pubmed.ncbi.nlm.nih.gov/25104208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Have We Seen the Last Variant of Severe Combined Immunodeficiency?

1 reference

https://pubmed.ncbi.nlm.nih.gov/25104208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genital pyoderma gangrenosum: report of two cases and published work review of Japanese cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/25104208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Highly variable clinical phenotypes of hypomorphic RAG1 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25104208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25104208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25104208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants

1 reference

https://pubmed.ncbi.nlm.nih.gov/25104208

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10875-014-0077-5

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

ResearchGate publication ID

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