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Items: 1 to 50 of 192

1.

Circulating interferon-α measured with a highly sensitive assay as a biomarker for juvenile inflammatory myositis activity.

Melki I, Devilliers H, Gitiaux C, Bondet V, Belot A, Bodemer C, Quartier P, Crow YJ, Duffy D, Rodero MP, Bader Meunier B.

Arthritis Rheumatol. 2019 Sep 5. doi: 10.1002/art.41096. [Epub ahead of print]

PMID:
31487101
2.

COPA Syndrome as a Cause of Lupus Nephritis.

Boulisfane-El Khalifi S, Viel S, Lahoche A, Frémond ML, Lopez J, Lombard C, Dubos F, Reumaux H, Gnemmi V, Legendre M, Crow YJ, Thumerelle C, Belot A.

Kidney Int Rep. 2019 Apr 28;4(8):1187-1189. doi: 10.1016/j.ekir.2019.04.014. eCollection 2019 Aug. No abstract available.

3.

Treatments in Aicardi-Goutières syndrome.

Crow YJ, Shetty J, Livingston JH.

Dev Med Child Neurol. 2019 Jun 7. doi: 10.1111/dmcn.14268. [Epub ahead of print] Review.

PMID:
31175662
4.

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.

PMID:
30936263
5.

[Pathological consequences of excess of interferon in vivo].

Lebon P, Crow YJ, Casanova JL, Gresser I.

Med Sci (Paris). 2019 Mar;35(3):232-235. doi: 10.1051/medsci/2019037. Epub 2019 Apr 1. Review. French.

PMID:
30931907
6.

Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopathies.

Uggenti C, Lepelley A, Crow YJ.

Annu Rev Immunol. 2019 Apr 26;37:247-267. doi: 10.1146/annurev-immunol-042718-041257. Epub 2019 Jan 11.

PMID:
30633609
7.

Familial Blau syndrome:First molecularly confirmed report from India.

Janarthanan M, Poddar C, Sudharshan S, Seabra L, Crow YJ.

Indian J Ophthalmol. 2019 Jan;67(1):165-167. doi: 10.4103/ijo.IJO_671_18.

8.

DDX58 and Classic Singleton-Merten Syndrome.

Ferreira CR, Crow YJ, Gahl WA, Gardner PJ, Goldbach-Mansky R, Hur S, de Jesús AA, Nehrebecky M, Park JW, Briggs TA.

J Clin Immunol. 2019 Jan;39(1):75-80. doi: 10.1007/s10875-018-0572-1. Epub 2018 Dec 20.

9.

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.

10.

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
11.

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
12.

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
13.

[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
14.

A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo.

Crow YJ, Lebon P, Casanova JL, Gresser I.

J Clin Immunol. 2018 Aug;38(6):694-698. doi: 10.1007/s10875-018-0543-6. Epub 2018 Sep 5. No abstract available.

PMID:
30187308
15.

Understanding the evolving phenotype of vascular complications in telomere biology disorders.

Higgs C, Crow YJ, Adams DM, Chang E, Hayes D Jr, Herbig U, Huang JN, Himes R, Jajoo K, Johnson FB, Reynolds SD, Yonekawa Y, Armanios M, Boulad F, DiNardo CD, Dufour C, Goldman FD, Khan S, Kratz C, Myers KC, Raghu G, Alter BP, Aubert G, Bhala S, Cowen EW, Dror Y, El-Youssef M, Friedman B, Giri N, Helms Guba L, Khincha PP, Lin TF, Longhurst H, McReynolds LJ, Nelson A, Olson T, Pariser A, Perona R, Sasa G, Schratz K, Simonetto DA, Townsley D, Walsh M, Stevens K, Agarwal S, Bertuch AA, Savage SA; Clinical Care Consortium for Telomere-associated Ailments (CCCTAA).

Angiogenesis. 2019 Feb;22(1):95-102. doi: 10.1007/s10456-018-9640-7. Epub 2018 Aug 25.

PMID:
30168024
16.

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.

Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Danielson J, Kula T, Drutman S, Belkaya S, Rattina V, Lorenzo-Diaz L, Boulai A, Rose Y, Kitabayashi N, Rodero MP, Dumaine C, Blanche S, Lebras MN, Leung MC, Mathew LS, Boisson B, Zhang SY, Boisson-Dupuis S, Giliani S, Chaussabel D, Notarangelo LD, Elledge SJ, Ciancanelli MJ, Abel L, Zhang Q, Marr N, Crow YJ, Su HC, Casanova JL.

J Exp Med. 2018 Oct 1;215(10):2567-2585. doi: 10.1084/jem.20180628. Epub 2018 Aug 24.

17.

Taking the STING out of inflammation.

Uggenti C, Crow YJ.

Nat Rev Rheumatol. 2018 Sep;14(9):508-509. doi: 10.1038/s41584-018-0071-z. No abstract available.

PMID:
30108365
18.

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.

19.

Development and Validation of an Ultrasensitive Single Molecule Array Digital Enzyme-linked Immunosorbent Assay for Human Interferon-α.

Llibre A, Bondet V, Rodero MP, Hunt D, Crow YJ, Duffy D.

J Vis Exp. 2018 Jun 14;(136). doi: 10.3791/57421.

20.

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
21.

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

Bouis D, Kirstetter P, Arbogast F, Lamon D, Delgado V, Jung S, Ebel C, Jacobs H, Knapp AM, Jeremiah N, Belot A, Martin T, Crow YJ, André-Schmutz I, Korganow AS, Rieux-Laucat F, Soulas-Sprauel P.

J Allergy Clin Immunol. 2019 Feb;143(2):712-725.e5. doi: 10.1016/j.jaci.2018.04.034. Epub 2018 May 23.

PMID:
29800647
22.

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.

23.

Sort Your Self Out!

Uggenti C, Crow YJ.

Cell. 2018 Feb 8;172(4):640-642. doi: 10.1016/j.cell.2018.01.023.

24.

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
25.

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.

26.

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Sullivan KE.

J Clin Immunol. 2018 Jan;38(1):96-128. doi: 10.1007/s10875-017-0464-9. Epub 2017 Dec 11.

27.

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.

Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Casanova JL, Sullivan KE.

J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8. Epub 2017 Dec 11.

28.

Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation.

Thomas CA, Tejwani L, Trujillo CA, Negraes PD, Herai RH, Mesci P, Macia A, Crow YJ, Muotri AR.

Cell Stem Cell. 2017 Sep 7;21(3):319-331.e8. doi: 10.1016/j.stem.2017.07.009. Epub 2017 Aug 10.

29.

Polymorphisms in IFIH1: the good and the bad.

Della Mina E, Rodero MP, Crow YJ.

Nat Immunol. 2017 Jun 20;18(7):708-709. doi: 10.1038/ni.3765. No abstract available.

30.

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.

31.

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.

32.

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.

33.

Brief Report: Blockade of TANK-Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells.

Frémond ML, Uggenti C, Van Eyck L, Melki I, Bondet V, Kitabayashi N, Hertel C, Hayday A, Neven B, Rose Y, Duffy D, Crow YJ, Rodero MP.

Arthritis Rheumatol. 2017 Jul;69(7):1495-1501. doi: 10.1002/art.40122. Epub 2017 Jun 5.

34.

Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab.

Fay AJ, King AA, Shimony JS, Crow YJ, Brunstrom-Hernandez JE.

Pediatr Neurol. 2017 Jun;71:56-59. doi: 10.1016/j.pediatrneurol.2017.03.008. Epub 2017 Mar 23.

35.

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.

36.

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
37.

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
38.

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
39.

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

Weill O, Decramer S, Malcus C, Kassai B, Rouvet I, Ginhoux T, Crow YJ, Rieux-Laucat F, Soulas-Sprauel P, Pagnier A, Koné-Paut I, Piram M, Galeotti C, Samaille C, Reumaux H, Lanteri A, Dubois SM, Lefebvre H, Burtey S, Maurier F, Carbasse A, Lemelle I, Meinzer U, Despert V, Flodrops H, Fabien N, Ranchin B, Hachulla E, Bader-Meunier B, Belot A.

Joint Bone Spine. 2017 Oct;84(5):589-593. doi: 10.1016/j.jbspin.2016.12.008. Epub 2016 Dec 28.

PMID:
28039062
40.

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.

41.

Aicardi-Goutières Syndrome.

Crow YJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2005 Jun 29 [updated 2016 Nov 22].

42.

Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview.

Rodero MP, Crow YJ.

J Exp Med. 2016 Nov 14;213(12):2527-2538. Epub 2016 Nov 7. Review.

43.

Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118.

Livingston JH, Crow YJ.

J Neurol Sci. 2017 Jan 15;372:443. doi: 10.1016/j.jns.2016.10.037. Epub 2016 Oct 24. No abstract available.

PMID:
27793341
44.

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
45.
46.

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.

47.

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.

48.

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
49.

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.

50.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM.

J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20.

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