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Year Number of Results
2011 1
2012 2
2013 3
2014 1
2015 1
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2017 2
2018 4
2019 7
2020 7
2021 2
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2023 4
2024 2

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33 results

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Page 1
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made CI, Yang J, Chan KW, Rosa Duque JSD, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A, Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Nguyen ATV, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE. Sharma M, et al. Among authors: rokni zadeh h. J Exp Med. 2023 May 1;220(5):e20221755. doi: 10.1084/jem.20221755. Epub 2023 Mar 8. J Exp Med. 2023. PMID: 36884218 Free PMC article.
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
Béziat V, Rapaport F, Hu J, Titeux M, Bonnet des Claustres M, Bourgey M, Griffin H, Bandet É, Ma CS, Sherkat R, Rokni-Zadeh H, Louis DM, Changi-Ashtiani M, Delmonte OM, Fukushima T, Habib T, Guennoun A, Khan T, Bender N, Rahman M, About F, Yang R, Rao G, Rouzaud C, Li J, Shearer D, Balogh K, Al Ali F, Ata M, Dabiri S, Momenilandi M, Nammour J, Alyanakian MA, Leruez-Ville M, Guenat D, Materna M, Marcot L, Vladikine N, Soret C, Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J, Catherinot É, Navabi SS, Zarhrate M, Woodley DT, Jeljeli M, Abraham T, Belkaya S, Lorenzo L, Rosain J, Bayat M, Lanternier F, Lortholary O, Zakavi F, Gros P, Orth G, Abel L, Prétet JL, Fraitag S, Jouanguy E, Davis MM, Tangye SG, Notarangelo LD, Marr N, Waterboer T, Langlais D, Doorbar J, Hovnanian A, Christensen N, Bossuyt X, Shahrooei M, Casanova JL. Béziat V, et al. Among authors: rokni zadeh h. Cell. 2021 Jul 8;184(14):3812-3828.e30. doi: 10.1016/j.cell.2021.06.004. Epub 2021 Jul 1. Cell. 2021. PMID: 34214472 Free PMC article.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, Arango-Franco CA, Philippot Q, Modaresi M, Mohammadzadeh I, Corcini Berndt M, Rinchai D, Le Voyer T, Rosain J, Momenilandi M, Martin-Fernandez M, Khan T, Bohlen J, Han JE, Deslys A, Bernard M, Gajardo-Carrasco T, Soudée C, Le Floc'h C, Migaud M, Seeleuthner Y, Jang MS, Nikolouli E, Seyedpour S, Begueret H, Emile JF, Le Guen P, Tavazzi G, Colombo CNJ, Marzani FC, Angelini M, Trespidi F, Ghirardello S, Alipour N, Molitor A, Carapito R, Mazloomrezaei M, Rokni-Zadeh H, Changi-Ashtiani M, Brouzes C, Vargas P, Borghesi A, Lachmann N, Bahram S, Crestani B, Pahari S, Schlesinger LS, Marr N, Bugonovic D, Boisson-Dupuis S, Béziat V, Abel L, Borie R, Young LR, Deterding R, Shahrooei M, Rezaei N, Parvaneh N, Craven D, Gros P, Malo D, Sepulveda FE, Nogee LM, Aladjidi N, Trapnell BC, Casanova JL, Bustamante J. Neehus AL, et al. Among authors: rokni zadeh h. Cell. 2024 Jan 18;187(2):390-408.e23. doi: 10.1016/j.cell.2023.11.036. Epub 2023 Dec 28. Cell. 2024. PMID: 38157855 Free PMC article.
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Materna M, Delmonte OM, Bosticardo M, Momenilandi M, Conrey PE, Charmeteau-De Muylder B, Bravetti C, Bellworthy R, Cederholm A, Staels F, Ganoza CA, Darko S, Sayed S, Le Floc'h C, Ogishi M, Rinchai D, Guenoun A, Bolze A, Khan T, Gervais A, Krüger R, Völler M, Palterer B, Sadeghi-Shabestari M, Langlois de Septenville A, Schramm CA, Shah S, Tello-Cajiao JJ, Pala F, Amini K, Campos JS, Lima NS, Eriksson D, Lévy R, Seeleuthner Y, Jyonouchi S, Ata M, Al Ali F, Stittrich A, Deswarte C, Pereira A, Mégret J, Le Voyer T, Bastard P, Berteloot L, Dussiot M, Vladikine N, Cardenas PP, Jouanguy E, Alqahtani M, Hasan A, Thanaraj TA, Rosain J, Al Qureshah F, Sabato V, Alyanakian MA, Leruez-Ville M, Rozenberg F, Haddad E, Regueiro JR, Toribio ML, Kelsen JR, Salehi M, Nasiri S, Torabizadeh M, Rokni-Zadeh H, Changi-Ashtiani M, Vatandoost N, Moravej H, Akrami SM, Mazloomrezaei M, Cobat A, Meyts I, Toyofuku E, Nishimura M, Moriya K, Mizukami T, Imai K, Abel L, Malissen B, Al-Mulla F, Alkuraya FS, Parvaneh N, von Bernuth H, Beetz C, Davi F, Douek DC, Cheynier R, Langlais D, Landegren N, Marr N, Morio T, Shahrooei M, Schrijvers R, Henrickson SE, Luche H, Notarangelo LD, Casanova JL, Béziat V. Materna M, et al. Among authors: rokni zadeh h. Science. 2024 Mar;383(6686):eadh4059. doi: 10.1126/science.adh4059. Epub 2024 Mar 1. Science. 2024. PMID: 38422122 Free PMC article.
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation.
Nabavi M, Shahrooei M, Rokni-Zadeh H, Vrancken J, Changi-Ashtiani M, Darabi K, Manian M, Seif F, Meyts I, Voet A, Moens L, Bossuyt X. Nabavi M, et al. Among authors: rokni zadeh h. J Clin Immunol. 2019 Feb;39(2):138-141. doi: 10.1007/s10875-019-00599-3. Epub 2019 Feb 22. J Clin Immunol. 2019. PMID: 30796585 No abstract available.
33 results