Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions (Q35817877)

10 August 2017

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions (English)

1 reference

10 August 2017

1 reference

30

1 reference

10 August 2017

Marta S Martins

10

0 references

Michael J. Ombrello

Michael J Ombrello

1

0 references

Glenn Cruse

Glenn Cruse

16

0 references

Elaine F. Remmers

Elaine F Remmers

2

0 references

Susan Moir

33

Susan Moir

1 reference

10 August 2017

19

Dean D Metcalfe

1 reference

10 August 2017

18

Alasdair M Gilfillan

1 reference

10 August 2017

13

Ivona Aksentijevich

1 reference

10 August 2017

36

Daniel L Kastner

1 reference

10 August 2017

22

Laura Wisch

1 reference

10 August 2017

12

Hirsh Komarow

1 reference

10 August 2017

29

Kevin V Shianna

1 reference

10 August 2017

24

Daniel C Douek

1 reference

10 August 2017

31

David B Goldstein

1 reference

10 August 2017

38

Hal M Hoffman

1 reference

10 August 2017

39

Joshua D Milner

1 reference

10 August 2017

7

Naeha Subramanian

1 reference

10 August 2017

5

Shrimati Datta

1 reference

10 August 2017

8

Tom D Bunney

1 reference

10 August 2017

37

Matilda Katan

1 reference

10 August 2017

28

Stanley F Nelson

1 reference

10 August 2017

Guangping Sun

3

1 reference

10 August 2017

Alexandra F Freeman

4

1 reference

10 August 2017

Parizad Torabi-Parizi

6

1 reference

10 August 2017

Rhona W Baxendale

9

1 reference

10 August 2017

Neil Romberg

11

1 reference

10 August 2017

Hun Sik Kim

14

1 reference

10 August 2017

Jason Ho

15

1 reference

10 August 2017

Mi-Yeon Jung

17

1 reference

10 August 2017

Celeste Nelson

20

1 reference

10 August 2017

Michelle O'Brien

21

1 reference

10 August 2017

Kelly Stone

23

1 reference

10 August 2017

Chhavi Gandhi

25

1 reference

10 August 2017

Alan A Wanderer

26

1 reference

10 August 2017

Hane Lee

27

1 reference

10 August 2017

Eric O Long

32

1 reference

10 August 2017

Eric Meffre

34

1 reference

10 August 2017

Steven M Holland

35

1 reference

10 August 2017

language of work or name

English

0 references

publication date

11 January 2012

1 reference

The New England Journal of Medicine

10 August 2017

1 reference

10 August 2017

366

1 reference

10 August 2017

4

1 reference

10 August 2017

330-338

1 reference

Enhancing effects of adjuvanted 2009 pandemic H1N1 influenza A vaccine on memory B-cell responses in HIV-infected individuals

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

PLC regulation: emerging pictures for molecular mechanisms

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

The characterization of twenty sequenced human genomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Mechanism of phosphorylation-induced activation of phospholipase C-gamma isozymes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Synergistic signals for natural cytotoxicity are required to overcome inhibition by c-Cbl ubiquitin ligase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Familial atypical cold urticaria: description of a new hereditary disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Characterization of phospholipase C gamma enzymes with gain-of-function mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Activity of the neuronal cold sensor TRPM8 is regulated by phospholipase C via the phospholipid phosphoinositol 4,5-bisphosphate.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Anticancer alkylphospholipids: mechanisms of action, cellular sensitivity and resistance, and clinical prospects

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

An antibody-deficiency syndrome due to mutations in the CD19 gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Intramolecular interaction between phosphorylated tyrosine-783 and the C-terminal Src homology 2 domain activates phospholipase C-gamma1.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Phospholipase Cgamma1 controls surface expression of TRPC3 through an intermolecular PH domain

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Bruton's tyrosine kinase is essential for human B cell tolerance

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

The spectrum of acquired and familial cold-induced urticaria/urticaria-like syndromes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Predominant autoantibody production by early human B cell precursors

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Requirements for distinct steps of phospholipase Cgamma2 regulation, membrane-raft-dependent targeting and subsequent enzyme activation in B-cell signalling

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Positional cloning of the APECED gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Different nuclear signals are activated by the B cell receptor during positive versus negative signaling.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Differential activation of transcription factors induced by Ca2 response amplitude and duration

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

B cell receptor-mediated calcium signaling is impaired in B lymphocytes of type Ia patients with common variable immunodeficiency

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Phospholipase C-gamma 2 is a critical signaling mediator for murine NK cell activating receptors

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase C gamma 2 that specifically increases external Ca2 entry

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Immunoglobulin signal transduction guides the specificity of B cell-T cell interactions and is blocked in tolerant self-reactive B cells

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

A novel N-ethyl-N-nitrosourea-induced mutation in phospholipase Cγ2 causes inflammatory arthritis, metabolic defects, and male infertility in vitro in a murine model

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Mutational Analysis of Human BAFF Receptor TNFRSF13C (BAFF-R) in Patients with Common Variable Immunodeficiency

22 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298368

Phospholipase Cgamma2 is essential in the functions of B cell and several Fc receptors

22 October 2018

1 reference

12 December 2020

Deficiency in circulating natural killer (NK) cell subsets in common variable immunodeficiency and X-linked agammaglobulinaemia

1 reference

12 December 2020

Idiopathic Cold Urticaria: In Vitro Demonstration of Histamine Release upon Challenge of Skin Biopsies

1 reference

12 December 2020

Inositol 1,4,5-trisphosphate and calcium regulate the calcium channel function of the hepatic inositol 1,4,5-trisphosphate receptor

1 reference

12 December 2020

Passive transfer of cold urticaria

1 reference

12 December 2020

Identifiers

DOI

10.1056/NEJMOA1102140

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

22236196

1 reference