List of works - Isabelle Touitou

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 new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

scientific article published on 13 December 2016

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

scientific article published on 16 May 2016

Adult onset Still's disease (AOSD) in the era of biologic therapies: dichotomous view for cytokine and clinical expressions

scientific article published on 27 August 2014

Association of TRAF1-C5 with risk of uveitis in juvenile idiopathic arthritis.

scientific article published on 28 June 2016

Autoinflammation. Management of hereditary recurrent fevers--SHARE experience.

scientific article

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature

scientific article published on 08 June 2018

Chronic leg ulcer revealing adenosine deaminase 2 deficiency: an atypical presentation

scientific article published on 01 December 2018

Circulating miRNA-125b is a potential biomarker predicting response to rituximab in rheumatoid arthritis

scientific article published on 20 March 2014

Classification criteria for autoinflammatory recurrent fevers

scientific article published on 24 April 2019

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

scientific article published on 14 January 2017

Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).

scientific article published on 19 November 2014

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling

scientific article published on 11 September 2015

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

scientific article published on 12 August 2018

Criteria for CAPS, is it all in the name?

scientific article published on 16 November 2016

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey

scientific article published on 11 June 2019

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

scientific article published on 15 May 2015

Discordant sex in monozygotic XXY/XX twins: a case report

scientific article

Dominant familial Mediterranean fever

scientific article published on 05 May 2016

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

scientific article

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

scientific article published on 15 May 2013

How to favour efficient networking of teams working in the field of rare diseases? Experience of the CeRéMAI reference centre for auto-inflammatory diseases

scientific article published on 02 December 2016

Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene. ⬇️

scientific article published on 16 March 2013

Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency

scientific article published on November 2013

International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients

scientific article published on June 2014

Kabuki syndrome: Update and review

scientific article

Mevalonate kinase deficiency in 2016

scientific article published on 19 September 2016

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

scientific article

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

scientific article published on 23 July 2018

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

scientific article published on 07 October 2015

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

scientific article published on 15 June 2016

New data in causes of autoinflammatory diseases

scientific article published on 22 November 2018

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency

scientific article published on March 2016

Reply to Sönmez et al

scientific article published on 11 September 2018

Response to Li and Zhang: infevers, a human gene mutation database for autoinflammatory diseases including disseminated superficial actinic porokeratosis.

scientific article

Second tyrosine kinase inhibitor discontinuation attempt in patients with chronic myeloid leukemia

scientific article published on 25 July 2017

Successful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutation

scientific article published on 14 November 2018

TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin

scientific article published on 08 February 2017

TNFRII polymorphism is associated with response to TNF blockers in rheumatoid arthritis patients seronegative for ACPA

scientific article published on 22 January 2014

The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity

article

The autoinflammatory diseases: a fashion with blurred boundaries!

scientific article published on 22 May 2015

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

scientific article published on 9 March 2016

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

scientific article published on October 2016

Typical facial gestalt in X-linked Kabuki syndrome.

scientific article

[Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art]

scientific article published on 07 March 2018

List of works by Isabelle Touitou

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

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

Adult onset Still's disease (AOSD) in the era of biologic therapies: dichotomous view for cytokine and clinical expressions

Association of TRAF1-C5 with risk of uveitis in juvenile idiopathic arthritis.

Autoinflammation. Management of hereditary recurrent fevers--SHARE experience.

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature

Chronic leg ulcer revealing adenosine deaminase 2 deficiency: an atypical presentation

Circulating miRNA-125b is a potential biomarker predicting response to rituximab in rheumatoid arthritis

Classification criteria for autoinflammatory recurrent fevers

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

Criteria for CAPS, is it all in the name?

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Discordant sex in monozygotic XXY/XX twins: a case report

Dominant familial Mediterranean fever

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

How to favour efficient networking of teams working in the field of rare diseases? Experience of the CeRéMAI reference centre for auto-inflammatory diseases

Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene. ⬇️

Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency

International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients

Kabuki syndrome: Update and review

Mevalonate kinase deficiency in 2016

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

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

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

New data in causes of autoinflammatory diseases

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency

Reply to Sönmez et al

Response to Li and Zhang: infevers, a human gene mutation database for autoinflammatory diseases including disseminated superficial actinic porokeratosis.

Second tyrosine kinase inhibitor discontinuation attempt in patients with chronic myeloid leukemia

Successful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutation

TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin

TNFRII polymorphism is associated with response to TNF blockers in rheumatoid arthritis patients seronegative for ACPA

The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity

The autoinflammatory diseases: a fashion with blurred boundaries!

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

Typical facial gestalt in X-linked Kabuki syndrome.

[Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art]