Primary atopic disorders. (Q52651330)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29549114 AND SRC:MED&resulttype=core&format=json

20 March 2020

review article

1 reference

title

Primary atopic disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29549114 AND SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

17 June 2019

1 reference

17 June 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29549114 AND SRC:MED&resulttype=core&format=json

20 March 2020

Joshua D Milner

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29549114 AND SRC:MED&resulttype=core&format=json

20 March 2020

author name string

Jonathan J Lyons

series ordinal

1

1 reference

5 May 2018

http://europepmc.org/abstract/MED/29549114

Joshua D Milner

series ordinal

2

1 reference

5 May 2018

http://europepmc.org/abstract/MED/29549114

language of work or name

English

0 references

publication date

16 March 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29549114 AND SRC:MED&resulttype=core&format=json

Journal of Experimental Medicine

20 March 2020

published in

2 references

17 June 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29549114 AND SRC:MED&resulttype=core&format=json

20 March 2020

volume

215

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29549114 AND SRC:MED&resulttype=core&format=json

20 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29549114 AND SRC:MED&resulttype=core&format=json

20 March 2020

page(s)

1009-1022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29549114 AND SRC:MED&resulttype=core&format=json

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

20 March 2020

cites work

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2 November 2018

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DOCK8 regulates fitness and function of regulatory T cells through modulation of IL-2 signaling

2 November 2018

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Sensory Neurons Co-opt Classical Immune Signaling Pathways to Mediate Chronic Itch

2 November 2018

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2 November 2018

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Combined immunodeficiency and atopy caused by a dominant negative mutation in CARD11.

2 November 2018

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Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome

2 November 2018

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A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients

2 November 2018

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Germline hypomorphic CARD11 mutations in severe atopic disease

2 November 2018

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Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.

2 November 2018

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Chronic Idiopathic Urticaria: Systemic Complaints and Their Relationship with Disease and Immune Measures.

2 November 2018

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ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

2 November 2018

1 reference

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A human immunodeficiency syndrome caused by mutations in CARMIL2

2 November 2018

1 reference

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Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry

2 November 2018

1 reference

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Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts

2 November 2018

1 reference

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Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency

2 November 2018

1 reference

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Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea.

2 November 2018

1 reference

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Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis

2 November 2018

1 reference

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Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

2 November 2018

1 reference

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Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

2 November 2018

1 reference

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The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells.

2 November 2018

1 reference

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FOXP3 Tregs require WASP to restrain Th2-mediated food allergy

2 November 2018

1 reference

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A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Dedicator of cytokinesis 8-deficient CD4 T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.

2 November 2018

1 reference

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Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency

2 November 2018

1 reference

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B-cell-specific STAT3 deficiency: Insight into the molecular basis of autosomal-dominant hyper-IgE syndrome.

2 November 2018

1 reference

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Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.

2 November 2018

1 reference

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TGF-β1-induced PAI-1 contributes to a profibrotic network in patients with eosinophilic esophagitis

2 November 2018

1 reference

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STAT3 Impairs STAT5 Activation in the Development of IL-9-Secreting T Cells

2 November 2018

1 reference

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Diminution of signal transducer and activator of transcription 3 signaling inhibits vascular permeability and anaphylaxis

2 November 2018

1 reference

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Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

2 November 2018

1 reference

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Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation

2 November 2018

1 reference

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Hypothetical Atopic Dermatitis-Myeloproliferative Neoplasm Syndrome

2 November 2018

1 reference

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Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

2 November 2018

1 reference

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Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

2 November 2018

1 reference

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Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

2 November 2018

1 reference

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Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency

2 November 2018

1 reference

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Regulatory T cell reprogramming toward a Th2-cell-like lineage impairs oral tolerance and promotes food allergy

2 November 2018

1 reference

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Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.

2 November 2018

1 reference

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Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation

2 November 2018

1 reference

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Activating mutations of STAT5B and STAT3 in lymphomas derived from γδ-T or NK cells

2 November 2018

1 reference

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mTOR inhibition rescues osteopenia in mice with systemic sclerosis

2 November 2018

1 reference

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Food allergy in patients with primary immunodeficiency diseases: prevalence within the US Immunodeficiency Network (USIDNET).

2 November 2018

1 reference

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DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity

2 November 2018

1 reference

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Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

2 November 2018

1 reference

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Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

2 November 2018

1 reference

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Emollient enhancement of the skin barrier from birth offers effective atopic dermatitis prevention

2 November 2018

1 reference

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Clinical characteristics and risk profile of patients with elevated baseline serum tryptase.

2 November 2018

1 reference

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Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells

2 November 2018

1 reference

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The genetic basis of aortic aneurysm

2 November 2018

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T-cell-receptor-dependent signal intensity dominantly controls CD4( ) T cell polarization In Vivo

2 November 2018

1 reference

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The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse

2 November 2018

1 reference

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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

2 November 2018

1 reference

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T cell receptor-dependent activation of mTOR signaling in T cells is mediated by Carma1 and MALT1, but not Bcl10.

2 November 2018

1 reference

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DOCK5 functions as a key signaling adaptor that links FcεRI signals to microtubule dynamics during mast cell degranulation

2 November 2018

1 reference

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Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern

2 November 2018

1 reference

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Inflammatory T cell responses rely on amino acid transporter ASCT2 facilitation of glutamine uptake and mTORC1 kinase activation

2 November 2018

1 reference

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FOXP3 and scurfy: how it all began

2 November 2018

1 reference

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Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

2 November 2018

1 reference

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Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

2 November 2018

1 reference

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Mitochondrial STAT3 plays a major role in IgE-antigen-mediated mast cell exocytosis

2 November 2018

1 reference

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Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities

2 November 2018

1 reference

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Critical role for mast cell Stat5 activity in skin inflammation

2 November 2018

1 reference

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Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development

2 November 2018

1 reference

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Combined immunodeficiency associated with homozygous MALT1 mutations

2 November 2018

1 reference

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Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience

2 November 2018

1 reference

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Serum basal tryptase may be a good marker for predicting the risk of anaphylaxis in children with food allergy.

2 November 2018

1 reference

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Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

2 November 2018

1 reference

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Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation

2 November 2018

1 reference

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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

2 November 2018

1 reference

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Elevated IgE and atopy in patients treated for early-onset ADA-SCID.

2 November 2018

1 reference

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TGFβ receptor mutations impose a strong predisposition for human allergic disease

2 November 2018

1 reference

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The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells

2 November 2018

1 reference

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A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

2 November 2018

1 reference

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Peptide library-based evaluation of T-cell receptor breadth detects defects in global and regulatory activation in human immunologic diseases

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Early signaling events that underlie fate decisions of naive CD4( ) T cells toward distinct T-helper cell subsets

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

The STAT5b Pathway Defect and Autoimmunity

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Extrathymically generated regulatory T cells control mucosal TH2 inflammation

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Activation of Myeloid Cell-Specific Adhesion Class G Protein-Coupled Receptor EMR2 via Ligation-Induced Translocation and Interaction of Receptor Subunits in Lipid Raft Microdomains

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Immature B cells preferentially switch to IgE with increased direct Sμ to Sε recombination.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Increased risk of asthma and atopic dermatitis in perinatally HIV-infected children and adolescents

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Filaggrin mutations associated with skin and allergic diseases.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

A requisite role for induced regulatory T cells in tolerance based on expanding antigen receptor diversity

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

STAT5b Deficiency: An Unsuspected Cause of Growth Failure, Immunodeficiency, and Severe Pulmonary Disease

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

The kinase mTOR regulates the differentiation of helper T cells through the selective activation of signaling by mTORC1 and mTORC2.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Opposing regulation of the locus encoding IL-17 through direct, reciprocal actions of STAT3 and STAT5

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Effect of filaggrin breakdown products on growth of and protein expression by Staphylococcus aureus

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Mast cells in allergy and infection: versatile effector and regulatory cells in innate and adaptive immunity

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Cutting edge: lack of high affinity competition for peptide in polyclonal CD4 responses unmasks IL-4 production

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

WASP: a key immunological multitasker

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Factors influencing serum total tryptase concentrations in a general adult population

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Stratum corneum lipids, skin barrier function and filaggrin mutations in patients with atopic eczema.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Familial atypical cold urticaria: description of a new hereditary disease

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Combined immunodeficiency associated with DOCK8 mutations

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Loss of the LAT adaptor converts antigen-responsive T cells into pathogenic effectors that function independently of the T cell receptor

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Filaggrin in the frontline: role in skin barrier function and disease

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

In vivo switch to IL-10-secreting T regulatory cells in high dose allergen exposure

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Omenn syndrome: inflammation in leaky severe combined immunodeficiency

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Glutamine-enriched enteral nutrition in very low-birth-weight infants: effect on the incidence of allergic and infectious diseases in the first year of life

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

STAT3 mutations in the hyper-IgE syndrome

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Novel mouse mutants with primary cellular immunodeficiencies generated by genome-wide mutagenesis.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Cytokine modulation of atopic dermatitis filaggrin skin expression

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Basal serum tryptase level correlates with severity of hymenoptera sting and age.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Asthma and airways collapse in two heritable disorders of connective tissue

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

The Wiskott-Aldrich syndrome protein is required for the function of CD4( )CD25( )Foxp3( ) regulatory T cells

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

WASP regulates suppressor activity of human and murine CD4( )CD25( )FOXP3( ) natural regulatory T cells

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Aneurysm syndromes caused by mutations in the TGF-beta receptor

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

The desmosome: cell science lessons from human diseases

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Potent pruritogenic action of tryptase mediated by PAR-2 receptor and its involvement in anti-pruritic effect of nafamostat mesilate in mice

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Increased TGF-beta2 in severe asthma with eosinophilia

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Allergen immunotherapy induces a suppressive memory response mediated by IL-10 in a mouse asthma model

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Revised nomenclature for allergy for global use: Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Impaired signaling via the high-affinity IgE receptor in Wiskott-Aldrich syndrome protein-deficient mast cells

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Identifying the MAGUK protein Carma-1 as a central regulator of humoral immune responses and atopy by genome-wide mouse mutagenesis.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Role of TCR-induced extracellular signal-regulated kinase activation in the regulation of early IL-4 expression in naive CD4 T cells

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Mast cell tryptases and airway remodeling

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Role of IL-10 in allergen-specific immunotherapy and normal response to allergens

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

How WASP regulates actin polymerization

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

A direct estimate of the human alphabeta T cell receptor diversity

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Familial gastrointestinal stromal tumours with germline mutation of the KIT gene

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

The Association of Atopy with a Gain-of-Function Mutation in the α Subunit of the Interleukin-4 Receptor

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Induction of Th1 and Th2 CD4 T cell responses: the alternative approaches

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Defective T cell receptor signaling and CD8 thymic selection in humans lacking zap-70 kinase

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

The effect of antigen dose on CD4 T helper cell phenotype development in a T cell receptor-alpha beta-transgenic model

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5881472

30 November 2018

1 reference

12 December 2020

Decreased expression of filaggrin in atopic skin

1 reference

12 December 2020

Induction of IL-4-producing CD4 T cells by antigenic peptides altered for TCR binding

1 reference

12 December 2020

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

1 reference

12 December 2020

IL-25 in atopic dermatitis: a possible link between inflammation and skin barrier dysfunction?

1 reference

12 December 2020

Infant colitis—it's in the genes

1 reference

12 December 2020

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy

1 reference

12 December 2020

Neonatal-onset T(-)B(-)NK( ) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3

1 reference

12 December 2020

JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1084/JEM.20172306

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29549114 AND SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29549114 AND SRC:MED&resulttype=core&format=json

20 March 2020

1 reference