List of works - Alexandre Belot

"Idiopathic inflammatory myopathies and the lung." Jean-Christophe Lega, Quitterie Reynaud, Alexandre Belot, Nicole Fabien, Isabelle Durieu and Vincent Cottin. Eur Respir Rev 2015; 24: 216-238

scientific article published on 01 September 2015

A Case of Type 2 Hypersensitivity to Rasburicase Diagnosed with a Natural Killer Cell Activation Assay.

scientific article published on 29 January 2018

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

scientific article published on 23 April 2018

A quest for Q fever

scientific article published on 01 August 2019

ADJUVITE: a double-blind, randomised, placebo-controlled trial of adalimumab in early onset, chronic, juvenile idiopathic arthritis-associated anterior uveitis

scientific article published on 23 December 2017

ANCA-ASSOCIATED VASCULITIDES: RECOMMENDATIONS OF THE FRENCH VASCULITIS STUDY GROUP ON THE USE OF IMMUNOSUPPRESSANTS AND BIOTHERAPIES FOR REMISSION INDUCTION AND MAINTENANCE

scientific article published on 06 July 2020

ANCA-Associated Glomerulonephritis in Systemic-Onset Juvenile Idiopathic Arthritis

scientific article published on 20 December 2011

Abstracts from the 10th C1-inhibitor deficiency workshop.

scientific article

Acute pancreatitis as a cause of mortality in pediatric systemic lupus erythematosus: Results of a multiple cause-of-death analysis in France

scientific article published on 16 March 2016

Anti-C1q autoantibodies as markers of renal involvement in childhood-onset systemic lupus erythematosus.

scientific article published on 25 March 2017

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling

scientific article published on 22 November 2019

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

scientific article published on 09 December 2016

Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Building a transitional care checklist in rheumatology: a Delphi-like survey

scientific article published on 28 September 2017

COPA Syndrome as a Cause of Lupus Nephritis

scientific article published on 28 April 2019

Causes of death in pediatric systemic lupus erythematosus

scientific article published on 01 May 2009

Chemoresistance of human monocyte-derived dendritic cells is regulated by IL-17A.

scientific article published on 18 February 2013

Circulating Interferon-α Measured With a Highly Sensitive Assay as a Biomarker for Juvenile Inflammatory Myositis Activity: Comment on the Article by Mathian et al

scientific article published on 23 November 2019

Clinical Profile of Methotrexate-resistant Juvenile Localised Scleroderma

scientific article published on 01 May 2019

Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study

scientific article published on 12 February 2015

Comparison of RT-qPCR and Nanostring in the measurement of blood interferon response for the diagnosis of type I interferonopathies

scientific article published on 07 November 2018

Continuous Blood Glucose Monitoring in a Patient With Type 2 Diabetes Who Underwent Intraarticular Betamethasone Injection for Knee Osteoarthritis

Correctly adDRESS the cause of hemophagocytic lymphohistiocytosis

scientific article published on February 2017

DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma and autoimmunity

scientific article published on 17 June 2020

DNA-PK deficiency potentiates cGAS-mediated antiviral innate immunity

scientific article published on 03 December 2020

Deletion of Inflammasome Components Is Not Sufficient To Prevent Fatal Inflammation in Models of Familial Hemophagocytic Lymphohistiocytosis.

scientific article

Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

scientific article published on 18 April 2017

Diagnostic difficulties in pediatric rheumatic diseases

scientific article published in November 2012

Does type-I interferon drive systemic autoimmunity?

scientific article

EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final classification criteria.

scientific article

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

scientific article published on 21 October 2020

Early-onset hypoparathyroidism and chronic keratitis revealing APECED.

scientific article published on 26 August 2015

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children.

scientific article published on 20 August 2016

Etanercept concentration and immunogenicity do not influence the response to Etanercept in patients with juvenile idiopathic arthritis

article published in 2018

Factors Associated With Severe SARS-CoV-2 Infection

scientific article published on 15 December 2020

Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome.

scientific article published on 12 October 2017

Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus

scientific article published on 27 December 2016

Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor

scientific article published on 09 October 2020

French Amyloidosis CAPS study: AA Amyloidosis complicating cryopyrin-associated periodic syndrome: a study on 14 cases and review of 53 cases from literature

scientific article

French expert opinion for the management of juvenile dermatomyositis

scientific article published on 10 January 2019

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

scientific article published on 23 September 2018

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

scientific article published on 14 January 2020

Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.

scientific article published on 03 June 2017

Health related quality of life measure in systemic pediatric rheumatic diseases and its translation to different languages: an international collaboration

scientific article

Human Naive and Memory T Cells Display Opposite Migratory Responses to Sphingosine-1 Phosphate.

scientific article published on 13 December 2017

Human Papilloma Virus Vaccination in Patients with Rheumatic Diseases in France: A Study of Vaccination Coverage and Drivers of Vaccination

scientific article published on 18 July 2022

Human genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 2022

Hypertensive crisis, hepatitis B virus and polyarteritis nodosa in a child.

scientific article published on 15 November 2006

INSAID variant classification and Eurofever criteria guide optimal treatment strategy in patients with TRAPS: data from the Eurofever registry

scientific article published on 09 November 2020

Idiopathic inflammatory myopathies and the lung

scientific article published on June 2015

Impaired microbial killing by neutrophils from patients with protein kinase C delta deficiency

scientific article

Infectious adverse events in children with Juvenile Idiopathic Arthritis treated with Biological Agents in a real-life setting: Data from the JIRcohorte

scientific article published on 29 July 2019

Inherited anomalies of innate immune receptors in pediatric-onset inflammatory diseases

scientific article published on 09 August 2015

Initial presentation and outcome of pediatric-onset mixed connective tissue disease: A French multicenter retrospective study

article

Isolated positive anti-SS-B autoantibodies are not related to clinical features of systemic autoimmune diseases: Results from a routine population survey.

scientific article published on 20 September 2017

It sounds like a relapsing polychondritis

scientific article

Kimura Disease Mimicking an Aneurysm of the Radial Artery

scientific article published on 08 September 2015

Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy

scientific article published on 20 April 2018

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation

scientific article published on 12 September 2017

Le phénotype des lupus familiaux ou syndromiques n’est pas différent des autres formes de lupus juvéniles

MISS questionnaire in French version: a good tool for children and parents to assess methotrexate intolerance

scientific article published on 5 May 2017

Macrophage activation syndrome and autoimmunity due to visceral leishmaniasis

scientific article published on 22 January 2015

Macrophage activation syndrome revealing systemic lupus erythematosus: about 4 cases

scientific article published on 17 September 2014

Massive increase in monocyte HLA-DR expression can be used to discriminate between septic shock and hemophagocytic lymphohistiocytosis-induced shock

scientific article published on 11 September 2018

Monogenic forms of systemic lupus erythematosus: new insights into SLE pathogenesis ⬇️

scientific article published on August 10, 2012

Monogenic lupus: Dissecting heterogeneity

scientific article published on 08 August 2019

Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review

scientific article published on 23 July 2018

Multicenter retrospective study of biological tolerance in juvenile idiopathic arthritis (jir-cohort).

scientific article published on 17 September 2014

Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature

scientific article published on 19 December 2017

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

scientific article

NLRC4 associated autoinflammatory diseases: A systematic review of the current literature

scientific article published on 26 February 2018

New classification for juvenile idiopathic arthritis: Is the Tower of Babel falling?

scientific article

Online hemodiafiltration in children and hypoparathyroidism: a single-centre series of cases

scientific article

Open Label, Phase II Study with Anakinra in Intravenous Immunoglobulin-Resistant Kawasaki Disease

scientific article published on 11 August 2020

Orbital mass in ANCA-associated vasculitides: data on clinical, biological, radiological and histological presentation, therapeutic management, and outcome from 59 patients

scientific article published on 01 September 2019

Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients

scientific article published on 17 November 2020

PKCδ is dispensible for oxLDL uptake and foam cell formation by human and murine macrophages

scientific article published on 24 September 2014

PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity.

scientific article published on 17 September 2014

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

scientific article published on 2 April 2015

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects

scientific article published on 12 June 2018

PReS-FINAL-2173: Protein kinase C delta deficiency is a new cause of monogenic SLE.

scientific article published on 5 December 2013

PReS-FINAL-2284: SLE and complement deficiencies: a French multicentric retrospective study.

scientific article published on 5 December 2013

PReS-FINAL-2311: Rituximab in paediatric ANCA-associated vasculitis.

scientific article published on 5 December 2013

Pathogenesis of adult-onset Still's disease: new insights from the juvenile counterpart.

scientific article

Patients' association programs for adolescents and young adults: The JAP study

scientific article published on 11 April 2019

Pediatric Inflammatory Multisystem Syndrome and Rheumatic Diseases During SARS-CoV-2 Pandemic

scientific article published on 04 December 2020

Pediatric-onset relapsing polychondritis: case series and systematic review

scientific article

Polymorphic gastric lesions and hemorrhage after first dose of chemotherapy in a child with diffuse large B-cell lymphoma

scientific article published on 27 July 2017

Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases

scientific article published on 18 October 2019

Post-diarrheal haemolytic uremic syndrome: when shall we consider it? Which follow-up?

scientific article

Prescribed but not approved: biologic agents used without approval in juvenile idiopathic arthritis in Switzerland, France and Belgium.

scientific article published on 17 September 2014

Pro-inflammatory genotype as a risk factor for aPL-associated thrombosis: Report of a family with multiple anti-phospholipid positive members.

scientific article

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation

scientific article

Pseudohypoaldosteronisms, report on a 10-patient series

scientific article published on May 2008

Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients

scientific article published on 07 October 2019

Rare diseases that mimic Systemic Lupus Erythematosus (Lupus mimickers)

scientific article published on 26 October 2018

Recommendations for using TNFα antagonists and French Clinical Practice Guidelines endorsed by the French National Authority for Health.

scientific article published on 29 October 2013

Relapsing polychondritis: a pediatric series of ten patients

scientific article published on 15 September 2008

Reply

Retraction: Interleukin 17 acts in synergy with B cell-activating factor to influence B cell biology and the pathophysiology of systemic lupus erythematosus

scientific article published on 01 September 2014

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

scientific article published on 01 December 2018

Reversible cerebral vasoconstriction syndrome in paediatric patients with systemic lupus erythematosus: implications for management

scientific article published on 23 September 2018

S1PR5 is essential for human natural killer cell migration toward sphingosine-1 phosphate

scientific article published on 14 December 2017

SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

SARS-CoV-2-related paediatric inflammatory multisystem syndrome, an epidemiological study, France, 1 March to 17 May 2020

scientific article published on 01 June 2020

Saddle nose not only for boxers

scientific article published on 02 July 2019

Safety of biological agents in paediatric rheumatic diseases: A real-life multicenter retrospective study using the JIRcohorte database

scientific article published on 07 September 2018

Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation).

scientific article published in September 2016

Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice

scientific article published on 23 May 2018

Severe infections in patients with anti-neutrophil cytoplasmic antibody-associated vasculitides receiving rituximab: A meta-analysis

scientific article published on 12 March 2020

Severity of COVID-19 and survival in patients with rheumatic and inflammatory diseases: data from the French RMD COVID-19 cohort of 694 patients

scientific article published on 02 December 2020

Should we stimulate or suppress immune responses in COVID-19? Cytokine and anti-cytokine interventions

scientific article published on 04 May 2020

Successful immunotherapy in life-threatening parvovirus B19 infection in a child.

scientific article published in July 2013

Switch of biotherapies in patients with juvenile idiopathic arthritis: analyses of the JIR cohort data

scientific article published on 17 September 2014

Systemic-onset juvenile rheumatoid arthritis and ANCA-associated glomerulonephritis.

scientific article published on 15 September 2008

Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus

scientific article published on 7 July 2016

The Relapsing Polychondritis Disease Activity Index: development of a disease activity score for relapsing polychondritis

scientific article

The benefit-risk balance for biological agents in juvenile idiopathic arthritis: a meta-analysis of randomized clinical trials

scientific article published on 25 May 2020

The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome

scientific article published on 07 May 2019

The pyrin inflammasome: from sensing RhoA GTPases-inhibiting toxins to triggering autoinflammatory syndromes

scientific article published on 01 April 2018

The relapsing polychondritis damage index (RPDAM): Development of a disease-specific damage score for relapsing polychondritis

scientific article published on 15 November 2018

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

scientific article published on 16 May 2022

Tocilizumab for the treatment of refractory pediatric mixed connective tissue disease (MCTD), in two patients

scientific article published on 17 September 2014

Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children.

scientific article published on 15 September 2016

Transplant Tolerance Induction in Newborn Infants: Mechanisms, Advantages, and Potential Strategies

scientific article

Treatment of MAS and HLH.

scientific article published on 17 September 2014

Trichuris suis induces human non-classical patrolling monocytes via the mannose receptor and PKC: implications for multiple sclerosis

scientific article

Type I IFN immunoprofiling in COVID-19 patients

scientific article published on 29 April 2020

Type-I Interferon assessment in 45 minutes using the FilmArray<sup>®</sup> PCR platform in SARS-CoV-2 and other viral infections

scientific article published on 12 December 2020

Vaccination recommendations for the adult immunosuppressed patient: A systematic review and comprehensive field synopsis

scientific article published on 2 April 2017

Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database

scientific article published on 03 March 2020

Varicella as a trigger of atypical haemolytic uraemic syndrome associated with complement dysfunction: two cases

scientific article

[Are all pediatric-onset inflammatory diseases genetically driven?]

scientific article published on 15 September 2015

[Biological therapy in pediatrics]

scientific article published on 28 September 2010

[Clinical overview of auto-inflammatory diseases].

scientific article published on 28 February 2018

[It is time to reconcile systemic juvenile idiopathic arthritis and adult-onset Still's disease]

scientific article published on 17 June 2019

[Juvenile dermatomyositis and new autoantibodies: Cases and review]

scientific article published on 16 November 2015

[Monogenic systemic lupus erythematosus]

scientific article published on 14 July 2011

[New treatments in paediatric rheumatology: supportive measures]

scientific article published on 01 June 2008

[Pediatric seizures and end-stage renal disease]

scientific article published on 28 February 2013

[The Ro60 autoantigen, a mainstay in inflammation regulation].

scientific article

[Type I interferonopathies. Literature review]

scientific article published on 19 September 2016

List of works by Alexandre Belot

"Idiopathic inflammatory myopathies and the lung." Jean-Christophe Lega, Quitterie Reynaud, Alexandre Belot, Nicole Fabien, Isabelle Durieu and Vincent Cottin. Eur Respir Rev 2015; 24: 216-238

A Case of Type 2 Hypersensitivity to Rasburicase Diagnosed with a Natural Killer Cell Activation Assay.

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

A quest for Q fever

ADJUVITE: a double-blind, randomised, placebo-controlled trial of adalimumab in early onset, chronic, juvenile idiopathic arthritis-associated anterior uveitis

ANCA-ASSOCIATED VASCULITIDES: RECOMMENDATIONS OF THE FRENCH VASCULITIS STUDY GROUP ON THE USE OF IMMUNOSUPPRESSANTS AND BIOTHERAPIES FOR REMISSION INDUCTION AND MAINTENANCE

ANCA-Associated Glomerulonephritis in Systemic-Onset Juvenile Idiopathic Arthritis

Abstracts from the 10th C1-inhibitor deficiency workshop.

Acute pancreatitis as a cause of mortality in pediatric systemic lupus erythematosus: Results of a multiple cause-of-death analysis in France

Anti-C1q autoantibodies as markers of renal involvement in childhood-onset systemic lupus erythematosus.

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

Building a transitional care checklist in rheumatology: a Delphi-like survey

COPA Syndrome as a Cause of Lupus Nephritis

Causes of death in pediatric systemic lupus erythematosus

Chemoresistance of human monocyte-derived dendritic cells is regulated by IL-17A.

Circulating Interferon-α Measured With a Highly Sensitive Assay as a Biomarker for Juvenile Inflammatory Myositis Activity: Comment on the Article by Mathian et al

Clinical Profile of Methotrexate-resistant Juvenile Localised Scleroderma

Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study

Comparison of RT-qPCR and Nanostring in the measurement of blood interferon response for the diagnosis of type I interferonopathies

Continuous Blood Glucose Monitoring in a Patient With Type 2 Diabetes Who Underwent Intraarticular Betamethasone Injection for Knee Osteoarthritis

Correctly adDRESS the cause of hemophagocytic lymphohistiocytosis

DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma and autoimmunity

DNA-PK deficiency potentiates cGAS-mediated antiviral innate immunity

Deletion of Inflammasome Components Is Not Sufficient To Prevent Fatal Inflammation in Models of Familial Hemophagocytic Lymphohistiocytosis.

Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

Diagnostic difficulties in pediatric rheumatic diseases

Does type-I interferon drive systemic autoimmunity?

EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final classification criteria.

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Early-onset hypoparathyroidism and chronic keratitis revealing APECED.

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children.

Etanercept concentration and immunogenicity do not influence the response to Etanercept in patients with juvenile idiopathic arthritis

Factors Associated With Severe SARS-CoV-2 Infection

Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome.

Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus

Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor

French Amyloidosis CAPS study: AA Amyloidosis complicating cryopyrin-associated periodic syndrome: a study on 14 cases and review of 53 cases from literature

French expert opinion for the management of juvenile dermatomyositis

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.

Health related quality of life measure in systemic pediatric rheumatic diseases and its translation to different languages: an international collaboration

Human Naive and Memory T Cells Display Opposite Migratory Responses to Sphingosine-1 Phosphate.

Human Papilloma Virus Vaccination in Patients with Rheumatic Diseases in France: A Study of Vaccination Coverage and Drivers of Vaccination

Human genetic and immunological determinants of critical COVID-19 pneumonia

Hypertensive crisis, hepatitis B virus and polyarteritis nodosa in a child.

INSAID variant classification and Eurofever criteria guide optimal treatment strategy in patients with TRAPS: data from the Eurofever registry

Idiopathic inflammatory myopathies and the lung

Impaired microbial killing by neutrophils from patients with protein kinase C delta deficiency

Infectious adverse events in children with Juvenile Idiopathic Arthritis treated with Biological Agents in a real-life setting: Data from the JIRcohorte

Inherited anomalies of innate immune receptors in pediatric-onset inflammatory diseases

Initial presentation and outcome of pediatric-onset mixed connective tissue disease: A French multicenter retrospective study

Isolated positive anti-SS-B autoantibodies are not related to clinical features of systemic autoimmune diseases: Results from a routine population survey.

It sounds like a relapsing polychondritis

Kimura Disease Mimicking an Aneurysm of the Radial Artery

Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation

Le phénotype des lupus familiaux ou syndromiques n’est pas différent des autres formes de lupus juvéniles

MISS questionnaire in French version: a good tool for children and parents to assess methotrexate intolerance

Macrophage activation syndrome and autoimmunity due to visceral leishmaniasis

Macrophage activation syndrome revealing systemic lupus erythematosus: about 4 cases

Massive increase in monocyte HLA-DR expression can be used to discriminate between septic shock and hemophagocytic lymphohistiocytosis-induced shock

Monogenic forms of systemic lupus erythematosus: new insights into SLE pathogenesis ⬇️

Monogenic lupus: Dissecting heterogeneity

Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review

Multicenter retrospective study of biological tolerance in juvenile idiopathic arthritis (jir-cohort).

Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

NLRC4 associated autoinflammatory diseases: A systematic review of the current literature

New classification for juvenile idiopathic arthritis: Is the Tower of Babel falling?

Online hemodiafiltration in children and hypoparathyroidism: a single-centre series of cases

Open Label, Phase II Study with Anakinra in Intravenous Immunoglobulin-Resistant Kawasaki Disease

Orbital mass in ANCA-associated vasculitides: data on clinical, biological, radiological and histological presentation, therapeutic management, and outcome from 59 patients

Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients

PKCδ is dispensible for oxLDL uptake and foam cell formation by human and murine macrophages

PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity.