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Items: 1 to 50 of 94

1.

Genetic polymorphism in C3 is associated with progression in chronic kidney disease (CKD) patients with IgA nephropathy but not in other causes of CKD.

Ibrahim ST, Chinnadurai R, Ali I, Payne D, Rice GI, Newman WG, Algohary E, Adam AG, Kalra PA.

PLoS One. 2020 Jan 31;15(1):e0228101. doi: 10.1371/journal.pone.0228101. eCollection 2020.

2.

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

Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ.

Hum Mutat. 2020 Jan 3. doi: 10.1002/humu.23975. [Epub ahead of print]

3.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.

Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA.

Sci Immunol. 2019 Dec 13;4(42). pii: eaav7501. doi: 10.1126/sciimmunol.aav7501.

PMID:
31836668
4.

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.

Van Eyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, Rice GI, Vassallo G, Rodero MP, He L, Taylor RW, Livingston JH, Chrzanowska-Lightowlers ZMA, Crow YJ.

Neuropediatrics. 2019 Nov 28. doi: 10.1055/s-0039-3400979. [Epub ahead of print]

PMID:
31779033
5.

Cardiac valve involvement in ADAR-related type I interferonopathy.

Crow Y, Keshavan N, Barbet JP, Bercu G, Bondet V, Boussard C, Dedieu N, Duffy D, Hully M, Giardini A, Gitiaux C, Rice GI, Seabra L, Bader-Meunier B, Rahman S.

J Med Genet. 2019 Nov 26. pii: jmedgenet-2019-106457. doi: 10.1136/jmedgenet-2019-106457. [Epub ahead of print]

PMID:
31772029
6.

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

Melki I, Devilliers H, Gitiaux C, Bondet V, Duffy D, Charuel JL, Miyara M, Bokov P, Kheniche A, Kwon T, Authier FJ, Allenbach Y, Belot A, Bodemer C, Bourrat E, Dumaine C, Fabien N, Faye A, Frémond ML, Hadchouel A, Kitabayashi N, Lepelley A, Martin-Niclos MJ, Mudumba S, Musset L, Quartier P, Rice GI, Seabra L, Uettwiller F, Uggenti C, Viel S, Rodero MP, Crow YJ, Bader-Meunier B.

Rheumatology (Oxford). 2019 Nov 22. pii: kez525. doi: 10.1093/rheumatology/kez525. [Epub ahead of print]

PMID:
31755959
7.

Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage.

Frémond ML, Legendre M, Fayon M, Clement A, Filhol-Blin E, Richard N, Berdah L, Roullaud S, Rice GI, Bondet V, Duffy D, Sileo C, Ducou le Pointe H, Begueret H, Coulomb A, Neven B, Amselem S, Crow Y, Nathan N.

Thorax. 2020 Jan;75(1):92-95. doi: 10.1136/thoraxjnl-2019-213892. Epub 2019 Oct 30.

PMID:
31666386
8.

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants.

Tucker LB, Lamot L, Niemietz I, Chung BK, Cabral DA, Houghton K, Petty RE, Morishita KA, Rice GI, Turvey SE, Gibson WT, Brown KL.

Pediatr Rheumatol Online J. 2019 Oct 28;17(1):70. doi: 10.1186/s12969-019-0374-x.

9.

Type I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profiles.

Reynolds JA, Briggs TA, Rice GI, Darmalinggam S, Bondet V, Bruce E, Khan M, Haque S, Chinoy H, Herrick AL, McCarthy EM, Zeef L, Hayes A, Duffy D, Parker B, Bruce IN.

Arthritis Res Ther. 2019 Jun 14;21(1):147. doi: 10.1186/s13075-019-1929-4.

10.

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS.

Gratia M, Rodero MP, Conrad C, Bou Samra E, Maurin M, Rice GI, Duffy D, Revy P, Petit F, Dale RC, Crow YJ, Amor-Gueret M, Manel N.

J Exp Med. 2019 May 6;216(5):1199-1213. doi: 10.1084/jem.20181329. Epub 2019 Apr 1.

11.

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, Zeef LAH, Rozenberg F, Bondet V, Duffy D, Llibre A, Baek J, Sambe MN, Henry E, Jolaine V, Barnerias C, Barth M, Belot A, Cances C, Debray FG, Doummar D, Frémond ML, Kitabayashi N, Lepelley A, Levrat V, Melki I, Meyer P, Nougues MC, Renaldo F, Rodero MP, Rodriguez D, Roubertie A, Seabra L, Uggenti C, Abdoul H, Treluyer JM, Desguerre I, Blanche S, Crow YJ.

N Engl J Med. 2018 Dec 6;379(23):2275-7. doi: 10.1056/NEJMc1810983. No abstract available.

12.

JAK 1/2 Blockade in MDA5 Gain-of-Function.

McLellan KE, Martin N, Davidson JE, Cordeiro N, Oates BD, Neven B, Rice GI, Crow YJ.

J Clin Immunol. 2018 Nov;38(8):844-846. doi: 10.1007/s10875-018-0563-2. Epub 2018 Nov 15. No abstract available.

PMID:
30443754
13.

A child with severe juvenile dermatomyositis treated with ruxolitinib.

Aeschlimann FA, Frémond ML, Duffy D, Rice GI, Charuel JL, Bondet V, Saire E, Neven B, Bodemer C, Balu L, Gitiaux C, Crow YJ, Bader-Meunier B.

Brain. 2018 Nov 1;141(11):e80. doi: 10.1093/brain/awy255. No abstract available. Erratum in: Brain. 2019 Jan 1;142(1):e3.

PMID:
30335130
14.

Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency.

Briand C, Frémond ML, Bessis D, Carbasse A, Rice GI, Bondet V, Duffy D, Chatenoud L, Blanche S, Crow YJ, Neven B.

Ann Rheum Dis. 2019 Mar;78(3):431-433. doi: 10.1136/annrheumdis-2018-214037. Epub 2018 Oct 3. No abstract available.

PMID:
30282666
15.

Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.

Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a002758. doi: 10.1101/mcs.a002758. Print 2018 Oct.

16.

[Familial chilblain lupus: Four cases spanning three generations].

Beltoise AS, Audouin-Pajot C, Lucas P, Tournier E, Rice GI, Crow YJ, Mazereeuw-Hautier J.

Ann Dermatol Venereol. 2018 Nov;145(11):683-689. doi: 10.1016/j.annder.2018.07.014. Epub 2018 Sep 11. French.

PMID:
30217686
17.

Mitochondrial double-stranded RNA triggers antiviral signalling in humans.

Dhir A, Dhir S, Borowski LS, Jimenez L, Teitell M, Rötig A, Crow YJ, Rice GI, Duffy D, Tamby C, Nojima T, Munnich A, Schiff M, de Almeida CR, Rehwinkel J, Dziembowski A, Szczesny RJ, Proudfoot NJ.

Nature. 2018 Aug;560(7717):238-242. doi: 10.1038/s41586-018-0363-0. Epub 2018 Jul 25.

18.

Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors' by Giannelou et al: mutations in TRNT1 result in a constitutive activation of type I interferon signalling.

Frémond ML, Melki I, Kracker S, Bondet V, Duffy D, Rice GI, Crow YJ, Bader-Meunier B.

Ann Rheum Dis. 2019 Aug;78(8):e86. doi: 10.1136/annrheumdis-2018-213745. Epub 2018 Jun 1. No abstract available.

PMID:
29858171
19.

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AM, Maré R, Scalais E, Pauly F, Debray FG, Dobyns W, Uggenti C, Park JW, Hur S, Livingston JH, Crow YJ, Van Maldergem L.

Hum Mutat. 2018 Aug;39(8):1076-1080. doi: 10.1002/humu.23554. Epub 2018 Jun 4.

20.

An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation.

Kothur K, Bandodkar S, Chu S, Wienholt L, Johnson A, Barclay P, Brogan PA, Rice GI, Crow YJ, Dale RC.

Neurology. 2018 Feb 6;90(6):289-291. doi: 10.1212/WNL.0000000000004921. Epub 2018 Jan 10. No abstract available.

PMID:
29321238
21.

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Frémond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ.

Nat Commun. 2017 Dec 19;8(1):2176. doi: 10.1038/s41467-017-01932-3.

22.

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

de Carvalho LM, Ngoumou G, Park JW, Ehmke N, Deigendesch N, Kitabayashi N, Melki I, Souza FFL, Tzschach A, Nogueira-Barbosa MH, Ferriani V, Louzada-Junior P, Marques W Jr, Lourenço CM, Horn D, Kallinich T, Stenzel W, Hur S, Rice GI, Crow YJ.

Arthritis Rheumatol. 2017 Oct;69(10):2081-2091. doi: 10.1002/art.40179. Epub 2017 Aug 22.

23.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ.

Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10.

24.

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.

Buers I, Rice GI, Crow YJ, Rutsch F.

J Interferon Cytokine Res. 2017 May;37(5):214-219. doi: 10.1089/jir.2017.0004. Review.

25.

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

Rodero MP, Decalf J, Bondet V, Hunt D, Rice GI, Werneke S, McGlasson SL, Alyanakian MA, Bader-Meunier B, Barnerias C, Bellon N, Belot A, Bodemer C, Briggs TA, Desguerre I, Frémond ML, Hully M, van den Maagdenberg AMJM, Melki I, Meyts I, Musset L, Pelzer N, Quartier P, Terwindt GM, Wardlaw J, Wiseman S, Rieux-Laucat F, Rose Y, Neven B, Hertel C, Hayday A, Albert ML, Rozenberg F, Crow YJ, Duffy D.

J Exp Med. 2017 May 1;214(5):1547-1555. doi: 10.1084/jem.20161451. Epub 2017 Apr 18.

26.

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

Jenkinson EM, Livingston JH, O'Driscoll MC, Desguerre I, Nabbout R, Boddaert N, Soares G, Gonçalves da Rocha M, D'Arrigo S, Rice GI, Crow YJ.

Clin Genet. 2018 Feb;93(2):228-234. doi: 10.1111/cge.13025. Epub 2017 Aug 3.

PMID:
28386946
27.

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. No abstract available.

PMID:
28138155
28.

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

Melki I, Rose Y, Uggenti C, Van Eyck L, Frémond ML, Kitabayashi N, Rice GI, Jenkinson EM, Boulai A, Jeremiah N, Gattorno M, Volpi S, Sacco O, Terheggen-Lagro SWJ, Tiddens HAWM, Meyts I, Morren MA, De Haes P, Wouters C, Legius E, Corveleyn A, Rieux-Laucat F, Bodemer C, Callebaut I, Rodero MP, Crow YJ.

J Allergy Clin Immunol. 2017 Aug;140(2):543-552.e5. doi: 10.1016/j.jaci.2016.10.031. Epub 2017 Jan 10. Erratum in: J Allergy Clin Immunol. 2017 Dec;140(6):1757.

PMID:
28087229
29.

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.

Rice GI, Melki I, Frémond ML, Briggs TA, Rodero MP, Kitabayashi N, Oojageer A, Bader-Meunier B, Belot A, Bodemer C, Quartier P, Crow YJ.

J Clin Immunol. 2017 Feb;37(2):123-132. doi: 10.1007/s10875-016-0359-1. Epub 2016 Dec 9.

30.

Expression of Cyclic GMP-AMP Synthase in Patients With Systemic Lupus Erythematosus.

An J, Durcan L, Karr RM, Briggs TA, Rice GI, Teal TH, Woodward JJ, Elkon KB.

Arthritis Rheumatol. 2017 Apr;69(4):800-807. doi: 10.1002/art.40002. Epub 2017 Mar 7.

31.

JAK inhibition in STING-associated interferonopathy.

Rodero MP, Frémond ML, Rice GI, Neven B, Crow YJ.

Ann Rheum Dis. 2016 Dec;75(12):e75. doi: 10.1136/annrheumdis-2016-210504. Epub 2016 Oct 12. No abstract available.

PMID:
27733349
32.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Erratum in: Nat Genet. 2017 Jan 31;49(2):317.

33.

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

Frémond ML, Rodero MP, Jeremiah N, Belot A, Jeziorski E, Duffy D, Bessis D, Cros G, Rice GI, Charbit B, Hulin A, Khoudour N, Caballero CM, Bodemer C, Fabre M, Berteloot L, Le Bourgeois M, Reix P, Walzer T, Moshous D, Blanche S, Fischer A, Bader-Meunier B, Rieux-Laucat F, Crow YJ, Neven B.

J Allergy Clin Immunol. 2016 Dec;138(6):1752-1755. doi: 10.1016/j.jaci.2016.07.015. Epub 2016 Aug 20. No abstract available.

34.

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood.

Frans G, Moens L, Schaballie H, Wuyts G, Liston A, Poesen K, Janssens A, Rice GI, Crow YJ, Meyts I, Bossuyt X.

J Allergy Clin Immunol. 2017 Jan;139(1):360-363.e6. doi: 10.1016/j.jaci.2016.06.050. Epub 2016 Aug 13. No abstract available.

PMID:
27531075
35.

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

An J, Briggs TA, Dumax-Vorzet A, Alarcón-Riquelme ME, Belot A, Beresford M, Bruce IN, Carvalho C, Chaperot L, Frostegård J, Plumas J, Rice GI, Vyse TJ, Wiedeman A, Crow YJ, Elkon KB.

Arthritis Rheumatol. 2017 Jan;69(1):131-142. doi: 10.1002/art.39810. Epub 2016 Dec 2.

36.

Brief Report: Vitamin D Deficiency Is Associated With Endothelial Dysfunction and Increases Type I Interferon Gene Expression in a Murine Model of Systemic Lupus Erythematosus.

Reynolds JA, Rosenberg AZ, Smith CK, Sergeant JC, Rice GI, Briggs TA, Bruce IN, Kaplan MJ.

Arthritis Rheumatol. 2016 Dec;68(12):2929-2935. doi: 10.1002/art.39803.

37.

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

Uettwiller F, Sarrabay G, Rodero MP, Rice GI, Lagrue E, Marot Y, Deiva K, Touitou I, Crow YJ, Quartier P.

RMD Open. 2016 May 16;2(1):e000236. doi: 10.1136/rmdopen-2015-000236. eCollection 2016.

38.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ.

J Clin Immunol. 2016 Jul;36(5):529-530. No abstract available.

39.

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Tonduti D, Orcesi S, Jenkinson EM, Dorboz I, Renaldo F, Panteghini C, Rice GI, Henneke M, Livingston JH, Elmaleh M, Burglen L, Willemsen MA, Chiapparini L, Garavaglia B, Rodriguez D, Boespflug-Tanguy O, Moroni I, Crow YJ.

Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016.03.009. Epub 2016 Apr 7.

PMID:
27091087
40.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ.

J Clin Immunol. 2016 Apr;36(3):220-34. doi: 10.1007/s10875-016-0252-y. Epub 2016 Mar 8. Erratum in: J Clin Immunol. 2016 Jul;36(5):529-30.

41.

ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells.

Cuadrado E, Booiman T, van Hamme JL, Jansen MH, van Dort KA, Vanderver A, Rice GI, Crow YJ, Kootstra NA, Kuijpers TW.

PLoS One. 2015 Dec 2;10(12):e0143613. doi: 10.1371/journal.pone.0143613. eCollection 2015.

42.

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

Bursztejn AC, Briggs TA, del Toro Duany Y, Anderson BH, O'Sullivan J, Williams SG, Bodemer C, Fraitag S, Gebhard F, Leheup B, Lemelle I, Oojageer A, Raffo E, Schmitt E, Rice GI, Hur S, Crow YJ.

Br J Dermatol. 2015 Dec;173(6):1505-13. doi: 10.1111/bjd.14073. Epub 2015 Oct 29.

43.

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.

Munoz J, Rodière M, Jeremiah N, Rieux-Laucat F, Oojageer A, Rice GI, Rozenberg F, Crow YJ, Bessis D.

JAMA Dermatol. 2015 Aug;151(8):872-7. doi: 10.1001/jamadermatol.2015.0251.

PMID:
25992765
44.

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

Mathieu AL, Verronese E, Rice GI, Fouyssac F, Bertrand Y, Picard C, Chansel M, Walter JE, Notarangelo LD, Butte MJ, Nadeau KC, Csomos K, Chen DJ, Chen K, Delgado A, Rigal C, Bardin C, Schuetz C, Moshous D, Reumaux H, Plenat F, Phan A, Zabot MT, Balme B, Viel S, Bienvenu J, Cochat P, van der Burg M, Caux C, Kemp EH, Rouvet I, Malcus C, Méritet JF, Lim A, Crow YJ, Fabien N, Ménétrier-Caux C, De Villartay JP, Walzer T, Belot A.

J Allergy Clin Immunol. 2015 Jun;135(6):1578-88.e5. doi: 10.1016/j.jaci.2015.01.040. Epub 2015 Apr 2.

45.

Human disease phenotypes associated with mutations in TREX1.

Rice GI, Rodero MP, Crow YJ.

J Clin Immunol. 2015 Apr;35(3):235-43. doi: 10.1007/s10875-015-0147-3. Epub 2015 Mar 4. Review.

PMID:
25731743
46.

Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.

Kasher PR, Jenkinson EM, Briolat V, Gent D, Morrissey C, Zeef LA, Rice GI, Levraud JP, Crow YJ.

J Immunol. 2015 Mar 15;194(6):2819-25. doi: 10.4049/jimmunol.1403157. Epub 2015 Feb 11.

47.

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

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