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26 February 2020

title

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency (English)

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26 February 2020

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1 reference

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26 February 2020

Yu Nee Lee

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1 reference

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26 February 2020

Kerry Dobbs

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1 reference

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26 February 2020

Harry Malech

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1 reference

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26 February 2020

Manish J. Butte

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1 reference

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26 February 2020

Mehdi Adeli

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1 reference

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26 February 2020

Chiara Azzari

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1 reference

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26 February 2020

Paolo Palma

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1 reference

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26 February 2020

Caterina Cancrini

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1 reference

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26 February 2020

Christina S.K. Yee

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26 February 2020

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Taco Kuijpers

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26 February 2020

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Gulbu Uzel

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26 February 2020

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Jennifer Puck

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26 February 2020

13

Morton J Cowan

1 reference

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26 February 2020

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Luigi D Notarangelo

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26 February 2020

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Andrew R Gennery

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26 February 2020

18

Suk See De Ravin

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26 February 2020

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Jolan E Walter

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26 February 2020

2

Lindsey B Rosen

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26 February 2020

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Krisztian Csomos

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26 February 2020

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Jacob M Rosenberg

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26 February 2020

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Divij Mathew

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26 February 2020

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Boglarka Ujhazi

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26 February 2020

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Karin Chen

1 reference

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26 February 2020

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Irit Tirosh

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26 February 2020

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Waleed Al-Herz

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26 February 2020

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Jack J Bleesing

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26 February 2020

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Michael S Grimley

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26 February 2020

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Roshini S Abraham

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26 February 2020

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Avni Y Joshi

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26 February 2020

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Thomas G Boyce

1 reference

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26 February 2020

Kari Christine Nadeau

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Kari C Nadeau

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26 February 2020

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Reem A El-Feky

1 reference

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26 February 2020

Dalia Helmy El-Ghoneimy

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Dalia H El-Ghoneimy

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26 February 2020

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Ghassan Dbaibo

1 reference

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26 February 2020

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Rima Wakim

1 reference

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26 February 2020

36

Kelly Capuder

1 reference

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26 February 2020

37

Antonio Condino-Neto

1 reference

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26 February 2020

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Beatriz T Costa-Carvalho

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26 February 2020

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Chaim Roifman

1 reference

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26 February 2020

41

David Buchbinder

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26 February 2020

42

Attila Kumanovics

1 reference

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26 February 2020

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Tim Niehues

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26 February 2020

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Catharina Schuetz

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26 February 2020

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Janet Chou

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Michel J Masaad

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26 February 2020

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Raif Geha

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26 February 2020

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Rebecca Gelman

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26 February 2020

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Mike Recher

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26 February 2020

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Paul J Utz

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26 February 2020

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Kathleen E Sullivan

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26 February 2020

author name string

Imelda Balboni

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26 February 2020

Javeed Akhter

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1 reference

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26 February 2020

Joao Bosco Oliveira

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26 February 2020

Jose Luis Franco

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26 February 2020

Steven M Holland

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26 February 2020

Sarah K Browne

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26 February 2020

language of work or name

English

0 references

publication date

12 October 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26457731%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

26 February 2020

published in

1 reference

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26 February 2020

volume

125

1 reference

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26 February 2020

issue

11

1 reference

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26 February 2020

page(s)

4135-4148

1 reference

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Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders

26 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=4639965

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review

30 September 2017

1 reference

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Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations

30 September 2017

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

30 September 2017

1 reference

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A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

30 September 2017

1 reference

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Protein microarray analysis reveals BAFF-binding autoantibodies in systemic lupus erythematosus

30 September 2017

1 reference

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Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease

30 September 2017

1 reference

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Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity

30 September 2017

1 reference

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Interleukin-22 inhibits bleomycin-induced pulmonary fibrosis

30 September 2017

1 reference

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NCBI GEO: archive for functional genomics data sets--update

30 September 2017

1 reference

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Adult-onset immunodeficiency in Thailand and Taiwan

30 September 2017

1 reference

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Autoimmune disease and gender: plausible mechanisms for the female predominance of autoimmunity

30 September 2017

1 reference

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Association of endogenous anti-interferon-α autoantibodies with decreased interferon-pathway and disease activity in patients with systemic lupus erythematosus

30 September 2017

1 reference

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The increasing incidence and prevalence of female multiple sclerosis--a critical analysis of potential environmental factors

30 September 2017

1 reference

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Anticytokine autoantibodies in infectious diseases: pathogenesis and mechanisms

30 September 2017

1 reference

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Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia

30 September 2017

1 reference

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Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome

30 September 2017

1 reference

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Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

30 September 2017

1 reference

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Hypomorphic Rag mutations can cause destructive midline granulomatous disease

30 September 2017

1 reference

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High avidity cytokine autoantibodies in health and disease: pathogenesis and mechanisms

30 September 2017

1 reference

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Acquired autoimmune polyglandular syndrome, thymoma, and an AIRE defect

30 September 2017

1 reference

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Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

30 September 2017

1 reference

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Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

30 September 2017

1 reference

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The geoepidemiology of systemic lupus erythematosus

30 September 2017

1 reference

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Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

30 September 2017

1 reference

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Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation

30 September 2017

1 reference

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Unravelling the association of partial T-cell immunodeficiency and immune dysregulation

30 September 2017

1 reference

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Adaptive immune cells temper initial innate responses

30 September 2017

1 reference

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Tolerance and autoimmunity: lessons at the bedside of primary immunodeficiencies

30 September 2017

1 reference

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Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1

30 September 2017

1 reference

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A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

30 September 2017

1 reference

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A variant of SCID with specific immune responses and predominance of gamma delta T cells

30 September 2017

1 reference

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AIRE deficiency in thymus of 2 patients with Omenn syndrome

30 September 2017

1 reference

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Spontaneous production of anti-IFN-alpha and anti-IL-12 autoantibodies by thymoma cells from myasthenia gravis patients suggests autoimmunization in the tumor

30 September 2017

1 reference

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TM4: a free, open-source system for microarray data management and analysis

30 September 2017

1 reference

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Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus

30 September 2017

1 reference

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Projection of an immunological self shadow within the thymus by the aire protein

30 September 2017

1 reference

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A20 inhibits tumor necrosis factor (TNF) alpha-induced apoptosis by disrupting recruitment of TRADD and RIP to the TNF receptor 1 complex in Jurkat T cells

30 September 2017

1 reference

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Gene Expression Omnibus: NCBI gene expression and hybridization array data repository

30 September 2017

1 reference

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Significance analysis of microarrays applied to the ionizing radiation response

30 September 2017

1 reference

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Partial V(D)J recombination activity leads to Omenn syndrome

30 September 2017

1 reference

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RAG mutations in human B cell-negative SCID.

30 September 2017

1 reference

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Receptor editing: an approach by autoreactive B cells to escape tolerance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

B lymphocytes may escape tolerance by revising their antigen receptors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Receptor editing in self-reactive bone marrow B cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

High avidity IFN-neutralizing antibodies in pharmaceutically prepared human IgG.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Infrequent and low AIRE expression in thymoma: difference in AIRE expression among WHO subtypes does not correlate with association of MG.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

An immunodeficiency disease with RAG mutations and granulomas

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Protein array autoantibody profiles for insights into systemic lupus erythematosus and incomplete lupus syndromes.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Anti-IFN-gamma autoantibodies in disseminated nontuberculous mycobacterial infections

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Toll-like receptor engagement converts T-cell autoreactivity into overt autoimmune disease

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Neutralizing antibodies against endogenous interferon in myasthenia gravis patients.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Autoantigen microarrays for multiplex characterization of autoantibody responses

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Sex differences in autoimmune disease

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639965

Deficiency of the autoimmune regulator AIRE in thymomas is insufficient to elicit autoimmune polyendocrinopathy syndrome type 1 (APS-1)

22 September 2018

1 reference

12 December 2020

Can we explain the higher prevalence of autoimmune disease in women?

1 reference

12 December 2020

Highly variable clinical phenotypes of hypomorphic RAG1 mutations

1 reference

12 December 2020

Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations

1 reference

12 December 2020

Antibodies to alpha-interferon in a patient with systemic lupus erythematosus

1 reference

12 December 2020

Incidence of Autoantibodies Against Type I and Type II Interferons in a Cohort of Systemic Lupus Erythematosus Patients in Slovakia

1 reference

12 December 2020

Antibodies to human leucocyte interferons in cancer patients

1 reference

12 December 2020

Characteristics of autoantibodies to human interferon in a patient with varicella-zoster disease

1 reference

12 December 2020

Detection of anti-interferon antibodies in systemic lupus erythematosus

1 reference

12 December 2020

A rapid ELISA for measurement of antibodies to nucliec acid antigens using UV-treated polystyrene microplates

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI80477

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26457731%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26457731%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PubMed publication ID

26457731

1 reference