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Article ; Online: Absence of NLRP3 somatic mutations and VEXAS-related UBA1 mutations in a large cohort of patients with Schnitzler syndrome.

Louvrier, Camille / Awad, Fawaz / Amselem, Serge / Lipsker, Dan / Giurgea, Irina

2022 Volume 77, Issue 11, Page(s) 3435–3436

MeSH term(s)	Humans ; Cohort Studies ; Mutation ; NLR Family, Pyrin Domain-Containing 3 Protein/genetics ; Schnitzler Syndrome/diagnosis ; Schnitzler Syndrome/genetics
Chemical Substances	NLR Family, Pyrin Domain-Containing 3 Protein ; UBA1 protein, human
Language	English
Publishing date	2022-06-25
Publishing country	Denmark
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	391933-x
ISSN	1398-9995 ; 0105-4538
ISSN (online)	1398-9995
ISSN	0105-4538
DOI	10.1111/all.15411
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Article ; Online: Pharmacological options in the treatment of osteogenesis imperfecta: A comprehensive review of clinical and potential alternatives.

Muñoz-Garcia, Javier / Heymann, Dominique / Giurgea, Irina / Legendre, Marie / Amselem, Serge / Castañeda, Beatriz / Lézot, Frédéric / William Vargas-Franco, Jorge

Biochemical pharmacology

2023 Volume 213, Page(s) 115584

Abstract: Osteogenesis imperfecta (OI) is a genetically heterogeneous connective tissue disorder characterized by bone fragility and different extra-skeletal manifestations. The severity of these manifestations makes it possible to classify OI into different ... ...

Abstract	Osteogenesis imperfecta (OI) is a genetically heterogeneous connective tissue disorder characterized by bone fragility and different extra-skeletal manifestations. The severity of these manifestations makes it possible to classify OI into different subtypes based on the main clinical features. This review aims to outline and describe the current pharmacological alternatives for treating OI, grounded on clinical and preclinical reports, such as antiresorptive agents, anabolic agents, growth hormone, and anti-TGFβ antibody, among other less used agents. The different options and their pharmacokinetic and pharmacodynamic properties will be reviewed and discussed, focusing on the variability of their response and the molecular mechanisms involved to attain the main clinical goals, which include decreasing fracture incidence, improving pain, and promoting growth, mobility, and functional independence.
MeSH term(s)	Humans ; Osteogenesis Imperfecta/drug therapy ; Fractures, Bone/epidemiology ; Fractures, Bone/etiology ; Bone Density Conservation Agents/therapeutic use
Chemical Substances	Bone Density Conservation Agents
Language	English
Publishing date	2023-05-05
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	208787-x
ISSN	1873-2968 ; 0006-2952
ISSN (online)	1873-2968
ISSN	0006-2952
DOI	10.1016/j.bcp.2023.115584
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Article ; Online: Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene: Report on two Northern European Caucasians relatives in France.

Elhani, Ines / Dumont, Anael / Deshayes, Samuel / Georgin-Lavialle, Sophie / Giurgea, Irina / Aouba, Achille

Joint bone spine

2020 Volume 87, Issue 3, Page(s) 251–255

Abstract: Introduction: Familial Mediterranean fever is the most frequent monogenic auto-inflammatory disorder that mostly affects Mediterranean population. Although this auto-inflammatory disease has historically been described as a recessive genetic disorder ... ...

Abstract	Introduction: Familial Mediterranean fever is the most frequent monogenic auto-inflammatory disorder that mostly affects Mediterranean population. Although this auto-inflammatory disease has historically been described as a recessive genetic disorder with homozygous or compound heterozygous mutations in the MEFV gene, an increasing number of cases are described with the detection of new single MEFV gene heterozygous mutations with modern molecular techniques. Case description: We report the cases of Caucasian French descent father and daughter who exhibited joint and abdominal inflammatory attacks resembling Familial Mediterranean Fever. Genetic studies revealed in both a heterozygous mutation p.T577N in exon 8 of MEFV gene, and in which colchicine was effective for preventing the attacks. Conclusion: Single heterozygous mutation of MEFV can be responsible for typical Familial Mediterranean Fever clinical pattern and, what is more, in non-Mediterranean ethnic background patients.
MeSH term(s)	Colchicine/therapeutic use ; Familial Mediterranean Fever/diagnosis ; Familial Mediterranean Fever/genetics ; France/epidemiology ; Heterozygote ; Humans ; Mutation ; Pyrin/genetics
Chemical Substances	MEFV protein, human ; Pyrin ; Colchicine (SML2Y3J35T)
Language	English
Publishing date	2020-01-30
Publishing country	France
Document type	Case Reports
ZDB-ID	2020487-5
ISSN	1778-7254 ; 1297-319X
ISSN (online)	1778-7254
ISSN	1297-319X
DOI	10.1016/j.jbspin.2020.01.005
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Article ; Online: A critical region of A20 unveiled by missense

El Khouri, Elma / Diab, Farah / Louvrier, Camille / Assrawi, Eman / Daskalopoulou, Aphrodite / Nguyen, Alexandre / Piterboth, William / Deshayes, Samuel / Desdoits, Alexandra / Copin, Bruno / Dastot Le Moal, Florence / Karabina, Sonia Athina / Amselem, Serge / Aouba, Achille / Giurgea, Irina

eLife

2023 Volume 12

Abstract: A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations ... ...

Abstract	A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in
MeSH term(s)	Humans ; NF-kappa B/genetics ; Mutation, Missense ; Tumor Necrosis Factor alpha-Induced Protein 3/genetics
Chemical Substances	NF-kappa B ; TNFAIP3 protein, human (EC 3.4.19.12) ; Tumor Necrosis Factor alpha-Induced Protein 3 (EC 3.4.19.12)
Language	English
Publishing date	2023-06-21
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2687154-3
ISSN	2050-084X ; 2050-084X
ISSN (online)	2050-084X
ISSN	2050-084X
DOI	10.7554/eLife.81280
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Article ; Online: Role of non-invasive methods in detecting liver impairment in familial Mediterranean fever adult patients with persistent hepatic cytolysis.

Deshayes, Samuel / Fraisse, Thibault / Fellahi, Soraya / Steichen, Olivier / Savey, Léa / Turlin, Bruno / Munteanu, Mona / Aouba, Achille / Bourguiba, Rim / Hentgen, Véronique / Faintuch, Jean-Manuel / Giurgea, Irina / Grateau, Gilles / Bastard, Jean-Philippe / Georgin-Lavialle, Sophie

Scientific reports

2022 Volume 12, Issue 1, Page(s) 16644

Abstract: Familial Mediterranean fever (FMF) patients may have hepatic cytolysis, although its origin is not formally elucidated. We aimed to evaluate liver involvement in familial Mediterranean fever (FMF) using non-invasive methods. All adult FMF patients ... ...

Abstract	Familial Mediterranean fever (FMF) patients may have hepatic cytolysis, although its origin is not formally elucidated. We aimed to evaluate liver involvement in familial Mediterranean fever (FMF) using non-invasive methods. All adult FMF patients harboring two non-ambiguous mutations of the MEFV gene with hepatic cytolysis were identified in a French tertiary adult center for FMF. Liver impairment was explored with FibroMax (a non-invasive method to estimate hepatic steatosis, necrosis, inflammation and fibrosis) and liver ultrasound. Among 520 FMF adult patients, 43 had persistent hepatic cytolysis and 20 patients were included (11 women, median age at inclusion: 49.5 years). According to the FibroMax results, patients were classified as having steatosis, fibrosis, and possible or definite nonalcoholic steato-hepatitis in 10 (50%), 9 (45%) and 7 (35%) of cases, respectively. The score of steatosis did not seem associated with the usual metabolic risk factors. No significant association was found between the cumulated dose of colchicine and any of the scores included in FibroMax. In adult FMF patients with persistent hepatic cytolysis, steatosis is the first cause to consider even in the absence of usual metabolic risk factors, suggesting other mechanisms. Colchicine did not seem to be involved in this toxicity.
MeSH term(s)	Adult ; Colchicine/therapeutic use ; Familial Mediterranean Fever/complications ; Familial Mediterranean Fever/diagnosis ; Familial Mediterranean Fever/genetics ; Female ; Fibrosis ; Humans ; Liver/diagnostic imaging ; Middle Aged ; Mutation ; Pyrin/genetics
Chemical Substances	MEFV protein, human ; Pyrin ; Colchicine (SML2Y3J35T)
Language	English
Publishing date	2022-10-05
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-17358-x
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Article ; Online: The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.

Popp, Bernt / Bienvenu, Thierry / Giurgea, Irina / Metreau, Julia / Kraus, Cornelia / Reis, André / Fischer, Jan / Bralo, María Palomares / Tenorio-Castaño, Jair / Lapunzina, Pablo / Almoguera, Berta / Lopez-Grondona, Fermina / Sticht, Heinrich / Zweier, Christiane

Clinical genetics

2022 Volume 102, Issue 6, Page(s) 517–523

Abstract: TCF4 haploinsufficiency by deletions, truncating variants or loss-of-function missense variants within the DNA-binding and protein interacting bHLH domain causes Pitt-Hopkins syndrome (PTHS). This neurodevelopmental disorder (NDD) is characterized by ... ...

Abstract	TCF4 haploinsufficiency by deletions, truncating variants or loss-of-function missense variants within the DNA-binding and protein interacting bHLH domain causes Pitt-Hopkins syndrome (PTHS). This neurodevelopmental disorder (NDD) is characterized by severe intellectual disability (ID), epilepsy, hyperbreathing and a typical facial gestalt. Only few aberrations of the N-terminus of TCF4 were associated with milder or atypical phenotypes. By personal communication and searching databases we assembled six cases with the novel, recurrent, de novo missense variant c.1165C > T, p.(Arg389Cys) in TCF4. This variant was identified by diagnostic exome or panel sequencing and is located upstream of the bHLH domain. All six individuals presented with moderate to severe ID with language impairment. Microcephaly occurred in two individuals, epilepsy only in one, and no breathing anomalies or myopia were reported. Facial gestalt showed some aspects of PTHS but was rather non-specific in most individuals. Interestingly, the variant is located within the AD2 activation domain next to a highly conserved coactivator-recruitment motif and might alter interaction with coactivator proteins independently from the bHLH domain. Our findings of a recurrent missense variant outside the bHLH domain in six individuals with an ID phenotype overlapping with but not typical for PTHS delineate a novel genotype-phenotype correlation for TCF4-related NDDs.
MeSH term(s)	Humans ; Intellectual Disability/genetics ; Transcription Factor 4/genetics ; Facies ; Hyperventilation/diagnosis ; Epilepsy
Chemical Substances	Transcription Factor 4 ; TCF4 protein, human
Language	English
Publishing date	2022-08-16
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14206
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Article ; Online: Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

Assrawi, Eman / Louvrier, Camille / El Khouri, Elma / Delaleu, Jérémie / Copin, Bruno / Dastot-Le Moal, Florence / Piterboth, William / Legendre, Marie / Karabina, Sonia A / Grateau, Gilles / Amselem, Serge / Giurgea, Irina

Rheumatology (Oxford, England)

2022 Volume 62, Issue 1, Page(s) 473–479

Abstract: Objective: To identify the molecular basis of a systemic autoinflammatory disorder (SAID) evocative of TNF receptor-associated periodic syndrome (TRAPS).: Methods: (i) Deep next generation sequencing (NGS) through a SAID gene panel; (ii) variant ... ...

Abstract	Objective: To identify the molecular basis of a systemic autoinflammatory disorder (SAID) evocative of TNF receptor-associated periodic syndrome (TRAPS). Methods: (i) Deep next generation sequencing (NGS) through a SAID gene panel; (ii) variant allele distribution in peripheral blood subpopulations; (iii) in silico analyses of mosaic variants using TNF receptor superfamily 1A (TNFRSF1A) crystal structure; (iv) review of the very rare TNFRSF1A mosaic variants reported previously. Results: In a 36-year-old man suffering from recurrent fever for 12 years, high-depth NGS revealed a TNFRSF1A mosaic variant, c.176G>A p.(Cys59Tyr), which Sanger sequencing failed to detect. This mosaic variant displayed a variant allele fraction of 14% in whole blood; it affects both myeloid and lymphoid lineages. p.(Cys59Tyr), a recurrent germline pathogenic variant, affects a crucial cysteine located in the first cysteine-rich domain (CRD1) and involved in a disulphide bridge. Introduction of a tyrosine at this position is expected to disrupt the CRD1 structure. Review of the three previously reported TNFRSF1A mosaic variants revealed that they are all located in a small region of CRD2 and that germinal cells can be affected. Conclusion: This study expands the localization of TNFRSF1A mosaic variants to the CRD1 domain. Noticeably, residues involved in germline TNFRSF1A mutational hot spots can also be involved in post-zygotic mutational events. Including our study, only four patients have been thus far reported with TNFRSF1A mosaicism, highlighting the need for a high-depth NGS-based approach to avoid the misdiagnosis of TRAPS. Genetic counselling has to consider the potential occurrence of TNFRSF1A mosaic variants in germinal cells.
MeSH term(s)	Male ; Humans ; Adult ; Cysteine/genetics ; Receptors, Tumor Necrosis Factor, Type I/genetics ; Fever/genetics ; Hereditary Autoinflammatory Diseases/genetics ; Hereditary Autoinflammatory Diseases/diagnosis ; Mutation
Chemical Substances	Cysteine (K848JZ4886) ; Receptors, Tumor Necrosis Factor, Type I ; TNFRSF1A protein, human
Language	English
Publishing date	2022-06-01
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1464822-2
ISSN	1462-0332 ; 1462-0324
ISSN (online)	1462-0332
ISSN	1462-0324
DOI	10.1093/rheumatology/keac274
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Article ; Online: AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.

Rodrigues, François / Cuisset, Laurence / Cador-Rousseau, Bérangère / Giurgea, Irina / Neven, Benedicte / Buob, David / Quartier, Pierre / Hachulla, Eric / Lequerré, Thierry / Cam, Gérard / Boursier, Guilaine / Hervieu, Valérie / Grateau, Gilles / Georgin-Lavialle, Sophie

Rheumatology (Oxford, England)

2022 Volume 61, Issue 12, Page(s) 4827–4834

Abstract: Objective: Cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable inherited autoinflammatory condition including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurologic cutaneous ... ...

Abstract	Objective: Cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable inherited autoinflammatory condition including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurologic cutaneous articular syndrome (CINCA). Our objective was to describe the main features of CAPS AA amyloidosis (AA-CAPS) associated and the efficacy of IL-1 inhibitors in this indication. Methods: Retrospective study in France associated with a systematic literature review. Results: Eighty-six patients were identified: 23 new French cases and 63 from the literature, with a median age at amyloidosis diagnosis of 39 years old. CAPS subtypes were MWS (n = 62), FCAS (n = 9), frontier forms between MWS and FCAS (n = 12) and between CINCA and MWS (n = 3). NLRP3 had been sequenced in 60 patients (70%) and the most frequent mutation was R260W (60%). Three AA-CAPS patients displayed somatic NLRP3 mutations. Death occurred in 35 patients (41%), none of whom having ever received IL-1 inhibitors. Twenty-eight patients (33%) received IL-1 inhibitors, with a >50% decrease in proteinuria in 89% of cases. Conclusion: AA amyloidosis can occur in nearly all CAPS subtypes. IL-1 inhibitors are effective, underlining the necessity of an early diagnosis of CAPS in order to start this treatment as soon as possible among AA-CAPS patients.
MeSH term(s)	Humans ; Adult ; Cryopyrin-Associated Periodic Syndromes/complications ; Cryopyrin-Associated Periodic Syndromes/drug therapy ; Cryopyrin-Associated Periodic Syndromes/genetics ; NLR Family, Pyrin Domain-Containing 3 Protein/genetics ; Retrospective Studies ; Mutation ; Amyloidosis/etiology ; Amyloidosis/genetics ; Interleukin-1/genetics
Chemical Substances	NLR Family, Pyrin Domain-Containing 3 Protein ; Interleukin-1
Language	English
Publishing date	2022-03-23
Publishing country	England
Document type	Systematic Review ; Journal Article
ZDB-ID	1464822-2
ISSN	1462-0332 ; 1462-0324
ISSN (online)	1462-0332
ISSN	1462-0324
DOI	10.1093/rheumatology/keac145
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Article ; Online: AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.

Rodrigues, François / Philit, Jean-Baptiste / Giurgea, Irina / Anglicheau, Dany / Roux, Jean-Jacques / Hoyeau, Nadia / Grateau, Gilles / Cuisset, Laurence / Georgin-Lavialle, Sophie

Seminars in arthritis and rheumatism

2020 Volume 50, Issue 6, Page(s) 1370–1373

Abstract: Introduction: Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease that can lead to an inflammatory A amyloidosis (AA).: Methods: To study the occurrence of AA in MKD patients we performed a systemic review of the ...

Abstract	Introduction: Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease that can lead to an inflammatory A amyloidosis (AA). Methods: To study the occurrence of AA in MKD patients we performed a systemic review of the literature and described two novel patients. Results: Amyloidosis occurred in 20 MKD patients, renal impairment being always the revealing symptom of AA. Although an accurate prevalence estimation is not possible since exact MKD prevalence is unknown, AA seems rare in MKD (about 6% if we estimate MKD prevalence at 300 patients worldwide). MVK gene study, available in 18 out of the 20 patients, confirmed two pathogenic mutations in all tested individuals. The most frequent genotype was V377I/I268T (n = 9/18). Retrospective search of clinical signs of MKD established, in all patients carrying MVK pathogenic mutations, a disease onset within the first four years of life. Nephrotic syndrome (n = 15), end-stage renal failure (n = 5) or both (n = 8) pointed out kidney amyloidosis. The youngest patient with renal amyloidosis was a European four-year-old girl previously misdiagnosed with PFAPA syndrome. Five patients died of AA amyloidosis despite the use of a biotherapy for two of them; kidney transplant was performed in nine individuals. Colchicine was not effective in any patient. Anti-interleukin-1 anakinra (n = 8), anti TNF etanercept (n = 7) and anti-interleukin 6 tocilizumab (n = 5) treatments were partially effective. Conclusion: Inflammatory A amyloidosis, a rare complication of MKD, can cause death or necessitate kidney transplantation. Early diagnosis and cytokine blocking biotherapy using anti-IL1, anti-TNF or anti-IL6 agents are required to prevent terminal renal failure.
MeSH term(s)	Amyloidosis/complications ; Amyloidosis/diagnosis ; Child, Preschool ; Female ; Genotype ; Humans ; Mevalonate Kinase Deficiency/complications ; Mevalonate Kinase Deficiency/diagnosis ; Mevalonate Kinase Deficiency/drug therapy ; Retrospective Studies ; Tumor Necrosis Factor Inhibitors
Chemical Substances	Tumor Necrosis Factor Inhibitors
Language	English
Publishing date	2020-03-19
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	120247-9
ISSN	1532-866X ; 0049-0172
ISSN (online)	1532-866X
ISSN	0049-0172
DOI	10.1016/j.semarthrit.2020.03.005
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Article ; Online: French practical guidelines for the diagnosis and management of AA amyloidosis.

Georgin-Lavialle, S / Savey, L / Buob, D / Bastard, J-P / Fellahi, S / Karras, A / Boffa, J-J / Grateau, G / Audard, Vincent / Bridoux, Franck / Damade, R / Deshayes, Samuel / Giurgea, Irina / Granel, Brigitte / Hachulla, Eric / Hot, Arnaud / Jaccard, Arnaud / Knebelmann, Bertrand / Marciano, Sebastian /

Pelcot, Françoise / Sarrabay, Guillaume / Boursier, Guilaine / Sellam, Jérémie / Terre, Alexandre / Bourguiba, Rim

La Revue de medecine interne

2023 Volume 44, Issue 2, Page(s) 62–71

Abstract: AA amyloidosis is secondary to the deposit of excess insoluble Serum Amyloid A (SAA) protein fibrils. AA amyloidosis complicates chronic inflammatory diseases, especially chronic inflammatory rheumatisms such as rheumatoid arthritis and spondyloarthritis; ...

Abstract	AA amyloidosis is secondary to the deposit of excess insoluble Serum Amyloid A (SAA) protein fibrils. AA amyloidosis complicates chronic inflammatory diseases, especially chronic inflammatory rheumatisms such as rheumatoid arthritis and spondyloarthritis; chronic infections such as tuberculosis, bronchectasia, chronic inflammatory bowel diseases such as Crohn's disease; and auto-inflammatory diseases including familial Mediterranean fever. This work consists of the French guidelines for the diagnosis workup and treatment of AA amyloidosis. We estimate in France between 500 and 700 cases in the whole French population, affecting both men and women. The most frequent organ impaired is kidney which usually manifests by oedemas of the lower extremities, proteinuria, and/or renal failure. Patients are usually tired and can display digestive features anf thyroid goiter. The diagnosis of AA amyloidosis is based on detection of amyloid deposits on a biopsy using Congo Red staining with a characteristic green birefringence in polarized light. Immunohistochemical analysis with an antibody directed against Serum Amyloid A protein is essential to confirm the diagnosis of AA amyloidosis. Peripheral inflammatory biomarkers can be measured such as C Reactive protein and SAA. We propose an algorithm to guide the etiological diagnosis of AA amyloidosis. The treatement relies on the etiologic treatment of the undelying chronic inflammatory disease to decrease and/or normalize Serum Amyloid A protein concentration in order to stabilize amyloidosis. In case of renal failure, dialysis or even a kidney transplant can be porposed. Nowadays, there is currently no specific treatment for AA amyloidosis deposits which constitutes a therapeutic challenge for the future.
MeSH term(s)	Male ; Humans ; Female ; Serum Amyloid A Protein/metabolism ; Serum Amyloid A Protein/therapeutic use ; Amyloidosis/diagnosis ; Amyloidosis/etiology ; Amyloidosis/therapy ; Familial Mediterranean Fever/complications ; Chronic Disease ; Renal Insufficiency/complications
Chemical Substances	Serum Amyloid A Protein
Language	English
Publishing date	2023-01-23
Publishing country	France
Document type	Journal Article ; Review
ZDB-ID	604679-4
ISSN	1768-3122 ; 0248-8663
ISSN (online)	1768-3122
ISSN	0248-8663
DOI	10.1016/j.revmed.2022.12.004
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