(Q38680451)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26707784%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Spectrum of Phenotypes Associated with Mutations in LRBA (English)

1 reference

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3 March 2020

3

1 reference

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3 March 2020

Hassan Abolhassani

2

1 reference

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3 March 2020

Mingyan Fang

4

1 reference

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3 March 2020

Asghar Aghamohammadi

11

1 reference

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3 March 2020

13

Lennart Hammarström

1 reference

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3 March 2020

6

Zahra Chavoshzadeh

1 reference

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3 March 2020

Omar K Alkhairy

1

object named as

Omar K Alkhairy

1 reference

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3 March 2020

Kasper Krogh Andersen

5

object named as

Kasper Krogh Andersen

1 reference

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3 March 2020

Janet Chou

10

object named as

Janet Chou

1 reference

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3 March 2020

author name string

Iraj Mohammadzadeh

7

1 reference

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3 March 2020

Mariam A El-Rajab

8

1 reference

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3 March 2020

Michel Massaad

9

1 reference

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3 March 2020

Raif S Geha

12

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3 March 2020

publication date

28 December 2015

1 reference

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Journal of Clinical Immunology

3 March 2020

published in

1 reference

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3 March 2020

volume

36

1 reference

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3 March 2020

issue

1

1 reference

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3 March 2020

page(s)

33-45

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10875-015-0224-7

3 March 2020

exact match

0 references

cites work

Variable phenotypic expression of mutations in genes of the immune system

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Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

21 January 2018

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BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function

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BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

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The role of BEACH proteins in Dictyostelium

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The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease

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Deregulated expression of LRBA facilitates cancer cell growth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0224-7

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

21 January 2018

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LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

21 January 2018

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LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

21 January 2018

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The consensus coding sequences of human breast and colorectal cancers

21 January 2018

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Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

21 January 2018

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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.

21 January 2018

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Psoas abscess complicating Crohn's disease: report of two cases.

21 January 2018

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Frequency and expression of inhibitory markers of CD4(+) CD25(+) FOXP3(+) regulatory T cells in patients with common variable immunodeficiency.

21 January 2018

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Digestive histopathological presentation of IPEX syndrome

21 January 2018

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The role of autophagy in plasma cell ontogenesis

21 January 2018

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Plasma cells require autophagy for sustainable immunoglobulin production.

21 January 2018

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Promotion of tumorigenesis by heterozygous disruption of the beclin 1 autophagy gene

21 January 2018

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A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1

21 January 2018

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Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

21 January 2018

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Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

21 January 2018

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Characterization of Foxp3+CD4+CD25+ and IL-10-Secreting CD4+CD25+ T Cells during Cure of Colitis

21 January 2018

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12 December 2020

Genetic defects in B-cell development and their clinical consequences

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12 December 2020

Prediction of the evolution of common variable immunodeficiency: HLA typing for patients with selective IgA deficiency

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12 December 2020

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation

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12 December 2020

Autophagy in Human Health and Disease

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12 December 2020

Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype

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12 December 2020