(Q39793998)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

title

Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Samuel C Chiang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Jan-Inge Henter

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Yenan Bryceson

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

author name string

Peter Priftakis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Fredrik Lindgren

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Nikolaos Kartalis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Alexandra Löfstedt

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Esther Lörinc

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Jacek Winiarski

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Marie Meeths

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

language of work or name

1 reference

4 May 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Immunology

3 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

page(s)

480-489

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

3 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

A review on guidelines for management and treatment of common variable immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

GEMINI: integrative exploration of genetic variation and genome annotations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Autoimmune enteropathy in children and adults.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Outcome of screening endoscopy in common variable immunodeficiency disorder and X-linked agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

A common variable immunodeficient patient who developed acute disseminated encephalomyelitis followed by the Lennox-Gastaut syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Hematopoietic stem cell transplantation for primary immunodeficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Duodenal pathology and clinical-immunological implications in common variable immunodeficiency patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-016-0289-Y

Outcome of allogeneic stem cell transplantation in adults with common variable immunodeficiency

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27146671

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27146671

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27146671

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10875-016-0289-Y

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27146671%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference