(Q27183544)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author

Qiang Pan-Hammarström

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Anna Katharina Simon

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Michel Moutschen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Asghar Aghamohammadi

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Nima Rezaei

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Ulrich Salzer

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Hendrik Veelken

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

E Michael Gertz

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

32

Lennart Hammarström

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

17

Pierre Philippet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

33

Bodo Grimbacher

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

31

Alejandro A Schäffer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

29

Alessandro Plebani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

9

Amos Etzioni

1 reference

1 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

14

Chonghai Liu

1 reference

1 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

author name string

Gabriela Lopez-Herrera

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Giacomo Tampella

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Peer Herholz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Claudia M Trujillo-Vargas

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Kanchan Phadwal

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Adi Mory

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Izhak Srugo

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Doron Melamed

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Manuela Baronio

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Massimiliano Vitali

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Vinciane Dideberg

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Victoria Enright

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Likun Du

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Hermann Eibel

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Dietmar Pfeifer

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Hans Stauss

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Vassilios Lougaris

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Kjell Hultenby

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

language of work or name

English

0 references

publication date

17 May 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

1 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

page(s)

986-1001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

Rab GTPase-activating proteins in autophagy: regulation of endocytic and autophagy pathways by direct binding to human ATG8 modifiers

1 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Structure and function of WD40 domain proteins

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

CD20 deficiency in humans results in impaired T cell-independent antibody responses

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

A subdomain of the endoplasmic reticulum forms a cradle for autophagosome formation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

A homozygous CARD9 mutation in a family with susceptibility to fungal infections

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Role for Msh5 in the regulation of Ig class switch recombination

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

SEL-2, the C. elegans neurobeachin/LRBA homolog, is a negative regulator of lin-12/Notch activity and affects endosomal traffic in polarized epithelial cells

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Autophagy in the Pathogenesis of Disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

The consensus coding sequences of human breast and colorectal cancers

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

21 March 2017

Chediak-Higashi syndrome

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

21 March 2017

12 December 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

TACI is mutant in common variable immunodeficiency and IgA deficiency

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Loss of autophagy in erythroid cells leads to defective removal of mitochondria and severe anemia in vivo

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Infection and Immunoglobulin Concentrations in Chediak-Higashi Mice

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Human non-synonymous SNPs: server and survey

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

A novel method for autophagy detection in primary cells: impaired levels of macroautophagy in immunosenescent T cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

"A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Membrane delivery to the yeast autophagosome from the Golgi-endosomal system

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Specificity and spatial dynamics of protein kinase A signaling organized by A-kinase-anchoring proteins

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Autophagy in skeletal muscle: implications for Pompe disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Discovery of Atg5/Atg7-independent alternative macroautophagy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

The Drosophila BEACH family protein, blue cheese, links lysosomal axon transport with motor neuron degeneration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

B lymphocytes: how they develop and function.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Lysosomal destabilization contributes to apoptosis of germinal center B-lymphocytes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Genetic analysis of patients with defects in early B-cell development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

The role of BEACH proteins in Dictyostelium

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Accounting for human polymorphisms predicted to affect protein function

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

CD40 signals apoptosis through FAN-regulated activation of the sphingomyelin-ceramide pathway.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Genetic CD21 deficiency is associated with hypogammaglobulinemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

The plasma membrane brings autophagosomes to life

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

An evolutionarily conserved nested gene pair - Mab21 and Lrba/Nbea in metazoan.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

The EUROclass trial: defining subgroups in common variable immunodeficiency.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

ER-phagy: selective autophagy of the endoplasmic reticulum.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Neurobeachin is essential for neuromuscular synaptic transmission.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Deregulated expression of LRBA facilitates cancer cell growth.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Common variable immunodeficiency: clinical and immunological features of 248 patients.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Family and linkage study of selective IgA deficiency and common variable immunodeficiency.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370280

Target-induced natural killer cell loss as a measure of NK cell responses

28 November 2018

1 reference

12 December 2020

BH3-only proteins and BH3 mimetics induce autophagy by competitively disrupting the interaction between Beclin 1 and Bcl-2/Bcl-X(L)

1 reference

12 December 2020

Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency

1 reference

12 December 2020

Progression of Selective IgA Deficiency to Common Variable Immunodeficiency

1 reference

12 December 2020

Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations

1 reference

12 December 2020

Etiology and pathogenesis of Parkinson's disease

1 reference

12 December 2020

The autophagy gene ATG5 plays an essential role in B lymphocyte development

1 reference

12 December 2020

Report of six cases of chediak-higashi syndrome with regard to clinical and laboratory findings

1 reference

12 December 2020

10.1016/J.AJHG.2012.04.015

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608502%20AND%20SRC:MED&resulttype=core&format=json