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Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party.
Buso H, Adam E, Arkwright PD, Bhattad S, Hamidieh AA, Behfar M, Belot A, Benezech S, Chan AY, Crow YJ, Dvorak CC, Flinn AM, Kapoor U, Lankester A, Kobayashi M, Matsumura R, Mottaghipisheh H, Okada S, Ouachee M, [...] Gennery AR
J Clin Immunol, 45(1):35, 29 Oct 2024
Cited by: 0 articles | PMID: 39470951 | PMCID: PMC11522153
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CNS disease associated with enhanced type I interferon signalling.
Crow YJ
Lancet Neurol, 23(11):1158-1168, 01 Nov 2024
Cited by: 0 articles | PMID: 39424561
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Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.
Bohlen J, Bagarić I, Vatovec T, Ogishi M, Ahmed SF, Cederholm A, Buetow L, Sobrino S, Le Floc'h C, Arango-Franco CA, Seabra L, Michelet M, Barzaghi F, Leardini D, Saettini F, Vendemini F, Baccelli F, Catala A, Gambineri E, [...] Bustamante J
J Clin Invest, 134(20):e181604, 15 Oct 2024
Cited by: 0 articles | PMID: 39403923 | PMCID: PMC11475086
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MDA5 gain-of-function associated with a Glu794del mutation.
Wong C, Gerasimavicius L, Crow YJ, Uggenti C, E794del consortium
J Clin Immunol, 45(1):20, 02 Oct 2024
Cited by: 0 articles | PMID: 39356338 | PMCID: PMC11447049
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Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
Shim A, Luan X, Zhou W, Crow YJ, Maciejowski J
Hum Mol Genet, 33(18):1555-1566, 01 Sep 2024
Cited by: 0 articles | PMID: 38796715 | PMCID: PMC11373327
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Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.
Triaille C, Rao NM, Rice GI, Seabra L, Sutherland FJH, Bondet V, Duffy D, Gennery AR, Fournier B, Bader-Meunier B, Troedson C, Cleary G, Buso H, Dalby-Payne J, Ranade P, Jansen K, De Somer L, Frémond ML, Chavan PP, [...] Crow YJ
J Clin Immunol, 44(8):185, 28 Aug 2024
Cited by: 1 article | PMID: 39196411 | PMCID: PMC11358312
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Inheritance of STING mosaicism in two half-siblings.
de Becdelièvre A, Eveillard LA, Wolska-Kuśnierz B, Frémond ML, SAVI study group
J Clin Immunol, 44(7):168, 30 Jul 2024
Cited by: 0 articles | PMID: 39078464 | PMCID: PMC7616363
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Human life within a narrow range: The lethal ups and downs of type I interferons.
Crow YJ, Casanova JL
Sci Immunol, 9(97):eadm8185, 05 Jul 2024
Cited by: 1 article | PMID: 38968338
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Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.
David C, Arango-Franco CA, Badonyi M, Fouchet J, Rice GI, Didry-Barca B, Maisonneuve L, Seabra L, Kechiche R, Masson C, Cobat A, Abel L, Talouarn E, Béziat V, Deswarte C, Livingstone K, Paul C, Malik G, Ross A, [...] Lepelley A
J Exp Med, 221(8):e20232066, 13 Jun 2024
Cited by: 3 articles | PMID: 38869500
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The brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies.
Viengkhou B, Hayashida E, McGlasson S, Emelianova K, Forbes D, Wiseman S, Wardlaw J, Verdillo R, Irani SR, Duffy D, Piehl F, Loo L, Pagenstecher A, Neely GG, Crow YJ, Campbell IL, Hunt DPJ, Hofer MJ
Immunity, 57(7):1696-1709.e10, 14 Jun 2024
Cited by: 1 article | PMID: 38878770 | PMCID: PMC11250091
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Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing
Green L, Hamilton N, Elpidorou M, Maroofian R, Douglas AG, Õunap K, Rose AM, Harris EL, Elworthy S, Renshaw SA, Low EC, Dockrell DH, Tveten K, Wells G, Harris SA, Al-Maawali A, Al-Thihli K, Al-Zuhaibi S, Futaisi AA, [...] Poulter JA
Research Square, 10 May 2024
Cited by: 0 articles | PPR: PPR851469
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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, [...] Houlden H
Nat Commun, 15(1):2269, 13 Mar 2024
Cited by: 1 article | PMID: 38480682 | PMCID: PMC10937998
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NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.
Della Vecchia S, Tessa A, Pasquariello R, Seabra L, Crow YJ, Battini R
Int J Mol Sci, 25(5):2864, 01 Mar 2024
Cited by: 0 articles | PMID: 38474113 | PMCID: PMC10932310
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Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, [...] Crow YJ
J Clin Immunol, 44(2):60, 07 Feb 2024
Cited by: 2 articles | PMID: 38324161 | PMCID: PMC10850255
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Phenotypes associated with genetic determinants of type I interferon regulation in the UK Biobank: a protocol.
Rioux B, Chong M, Walker R, McGlasson S, Rannikmäe K, McCartney D, McCabe J, Brown R, Crow YJ, Hunt D, Whiteley W
Wellcome Open Res, 8:550, 23 Nov 2023
Cited by: 0 articles | PMID: 38855722
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Phenotypes associated with genetic determinants of type I interferon regulation in the UK Biobank: a protocol
Rioux B, Chong M, Walker R, McGlasson S, Rannikmäe K, McCartney D, McCabe J, Brown R, Crow YJ, Hunt D, Whiteley W
Wellcome Open Res, 23 Nov 2023
Cited by: 0 articles | PPR: PPR763825
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ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.
Hirschenberger M, Lepelley A, Rupp U, Klute S, Hunszinger V, Koepke L, Merold V, Didry-Barca B, Wondany F, Bergner T, Moreau T, Rodero MP, Rösler R, Wiese S, Volpi S, Gattorno M, Papa R, Lynch SA, Haug MG, [...] Sparrer KMJ
Nat Commun, 14(1):6770, 01 Nov 2023
Cited by: 7 articles | PMID: 37914730 | PMCID: PMC10620153
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Phenotypes associated with genetic determinants of type I interferon regulation in the UK Biobank: a protocol
Rioux B, Chong M, Walker R, McGlasson S, Rannikmäe K, McCartney D, McCabe J, Brown R, Crow YJ, Hunt D, Whiteley W
medRxiv, 13 Oct 2023
Cited by: 0 articles | PPR: PPR741173
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Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab.
Scaffei E, Buchignani B, Pasquariello R, Cristofani P, Canapicchi R, Biagi L, Giordano F, De Marco E, Crow YJ, Battini R
Front Neurol, 14:1245014, 20 Sep 2023
Cited by: 0 articles | PMID: 37799282 | PMCID: PMC10548379
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WITHDRAWN: Biallelic mutation ofSUPV3L1causes an inherited leukodystrophy-associated neurodevelopmental disorder due to aberrant mitochondrial double stranded RNA processing
Green L, Hamilton N, Elpidorou M, Harris EL, Douglas A, Ounap K, Maroofian R, Rose AM, Elworthy S, Renshaw SA, Low EC, Prescott T, Soberg K, Al-Maawali A, Al-Zuhaibi S, Futaisi AA, Calame D, Al-Thihli K, Sheridan EG, [...] Poulter JA
medRxiv, 03 Jul 2023
Cited by: 0 articles | PPR: PPR685478
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ARF1 prevents aberrant type I IFN induction by regulating STING activation and recycling
Hirschenberger M, Lepelley A, Rupp U, Klute S, Hunszinger V, Koepke L, Merold V, Didry-Barca B, Wondany F, Bergner T, Wiese S, Volpi S, Gattorno M, Papa R, Lynch S, Haug MG, Houge G, Wigby KM, Sprague J, [...] Sparrer KM
medRxiv, 01 May 2023
Cited by: 0 articles | PPR: PPR653351
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JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Frémond ML, Hully M, Fournier B, Barrois R, Lévy R, Aubart M, Castelle M, Chabalier D, Gins C, Sarda E, Al Adba B, Couderc S, D' Almeida C, Berat CM, Durrleman C, Espil C, Lambert L, Méni C, Périvier M, [...] Neven B
J Clin Immunol, 43(6):1436-1447, 12 May 2023
Cited by: 7 articles | PMID: 37171742 | PMCID: PMC10175907
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Enhanced inflammatory signaling driven by metabolic switch in Aicardi-Goutières syndrome
Batignes M, Luka M, Jagtap S, de Cevins C, Nemazanyy I, Fali T, García-Paredes V, Carbone F, Pérot BP, Neven B, Bader-Meunier B, Quartier dit Maire P, Hully M, Belot A, Lepelley A, Frémond M, Crow YJ, Fischer A, Ménager MM
bioRxiv, 24 Feb 2023
Cited by: 0 articles | PPR: PPR621092
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Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.
Leung ML, Woodhull W, Uggenti C, Schord S, Mato RP, Rodriguez DP, Ream M, Crow YJ, Mori M
Eur J Med Genet, 66(4):104731, 11 Feb 2023
Cited by: 0 articles | PMID: 36775013
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Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.
Zhu G, Badonyi M, Franklin L, Seabra L, Rice GI, Anne-Boland-Auge, Deleuze JF, El-Chehadeh S, Anheim M, de Saint-Martin A, Pellegrini S, Marsh JA, Crow YJ, El-Daher MT
J Clin Immunol, 43(4):808-818, 08 Feb 2023
Cited by: 2 articles | PMID: 36753016 | PMCID: PMC10110676
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