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Year Number of Results
2020 9
2021 14
2022 16
2023 16
2024 5

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48 results

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Page 1
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA. Similuk MN, et al. J Allergy Clin Immunol. 2022 Oct;150(4):947-954. doi: 10.1016/j.jaci.2022.06.009. Epub 2022 Jun 24. J Allergy Clin Immunol. 2022. PMID: 35753512 Free PMC article. Review.
The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.
Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. Dvorak CC, et al. J Allergy Clin Immunol. 2023 Feb;151(2):539-546. doi: 10.1016/j.jaci.2022.10.022. Epub 2022 Nov 28. J Allergy Clin Immunol. 2023. PMID: 36456361 Free PMC article.
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ, Bignucolo O, Seki S, Ghraichy M, Delmonte OM, von Niederhäusern V, Higgins R, Ghosh A, Nishizawa M, Tanaka M, Baldrich A, Köppen J, Hirsiger JR, Hupfer R, Ehl S, Rensing-Ehl A, Hopfer H, Prince SS, Daley SR, Marquardsen FA, Meyer BJ, Tamm M, Daikeler TD, Diesch T, Kühne T, Helbling A, Berkemeier C, Heijnen I, Navarini AA, Trück J, de Villartay JP, Oxenius A, Berger CT, Hess C, Notarangelo LD, Yamamoto H, Recher M. Jauch AJ, et al. J Allergy Clin Immunol. 2023 Aug;152(2):500-516. doi: 10.1016/j.jaci.2023.03.022. Epub 2023 Mar 31. J Allergy Clin Immunol. 2023. PMID: 37004747 Free PMC article.
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD. Thakar MS, et al. Lancet. 2023 Jul 8;402(10396):129-140. doi: 10.1016/S0140-6736(23)00731-6. Epub 2023 Jun 20. Lancet. 2023. PMID: 37352885
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. Science. 2024 Mar;383(6686):eadh4059. doi: 10.1126/science.adh4059. Epub 2024 Mar 1. Science. 2024. PMID: 38422122 Free PMC article.
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.
Riestra MR, Pillay BA, Willemsen M, Kienapfel V, Ehlers L, Delafontaine S, Pinton A, Wouters M, Hombrouck A, Sauer K, Bossuyt X, Voet A, Soenen SJ, Conde CD, Bucciol G, Boztug K, Humblet-Baron S, Touzart A, Rieux-Laucat F, Notarangelo LD, Moens L, Meyts I. Riestra MR, et al. J Clin Immunol. 2023 Dec 15;44(1):2. doi: 10.1007/s10875-023-01627-z. J Clin Immunol. 2023. PMID: 38099988
Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients.
Riller Q, Fourgeaud J, Bruneau J, De Ravin SS, Smith G, Fusaro M, Meriem S, Magerus A, Luka M, Abdessalem G, Lhermitte L, Jamet A, Six E, Magnani A, Castelle M, Lévy R, Lecuit MM, Fournier B, Winter S, Semeraro M, Pinto G, Abid H, Mahlaoui N, Cheikh N, Florkin B, Frange P, Jeziorski E, Suarez F, Sarrot-Reynauld F, Nouar D, Debray D, Lacaille F, Picard C, Pérot P, Regnault B, Da Rocha N, de Cevins C, Delage L, Pérot BP, Vinit A, Carbone F, Brunaud C, Marchais M, Stolzenberg MC, Asnafi V, Molina T, Rieux-Laucat F, Notarangelo LD, Pittaluga S, Jais JP, Moshous D, Blanche S, Malech H, Eloit M, Cavazzana M, Fischer A, Ménager MM, Neven B. Riller Q, et al. J Allergy Clin Immunol. 2023 Jun;151(6):1634-1645. doi: 10.1016/j.jaci.2022.12.822. Epub 2023 Jan 10. J Allergy Clin Immunol. 2023. PMID: 36638922 Free PMC article.
48 results