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Page 1
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.
Knox AVC, Cominsky LY, Sun D, Cruz Cabrera E, Nolan BE, Ofray E, Benetti E, Visconti C, Barzaghi F, Rosenzweig SD, Lawrence MG, Sullivan KE, Yoon S, Rachimi S, Padem N, Conboy E, Stojanovic M, Petrovic G, Pasic S, Church JA, Ferdman RM, Candotti F, Arlabosse T, Theodoropoulou K, Dutmer CM, Maródi L, Szücs G, Broides A, Nahum A, Levy J, Kettunen KM, Daddali R Ravi, Seppänen MRJ, Vänttinen M, Martelius T, Grönholm J, Peri M, Azzari C, Ricci S, Ojaimi S, Edwards ES, van Zelm MC, Sun J, Abolhassani H, Pan-Hammarström Q, Hakonarson H, Mayr D, Boztug K, Boisson B, Casanova JL, Le Coz C, Poon GMK, Romberg N. Knox AVC, et al. Among authors: ferdman rm. Blood. 2025 Jan 24:blood.2024026683. doi: 10.1182/blood.2024026683. Online ahead of print. Blood. 2025. PMID: 39854693
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F. Magg T, et al. Among authors: ferdman rm. Sci Immunol. 2021 Jun 18;6(60):eabf9564. doi: 10.1126/sciimmunol.abf9564. Sci Immunol. 2021. PMID: 34145065 Free PMC article.
Chronic norovirus infection in primary immune deficiency disorders: an international case series.
Rolfes MC, Sriaroon P, Dávila Saldaña BJ, Dvorak CC, Chapdelaine H, Ferdman RM, Chen K, Jolles S, Patel NC, Kim YJ, Tarrant TK, Martelius T, Seppanen M, Joshi AY. Rolfes MC, et al. Among authors: ferdman rm. Diagn Microbiol Infect Dis. 2019 Jan;93(1):69-73. doi: 10.1016/j.diagmicrobio.2018.08.002. Epub 2018 Aug 12. Diagn Microbiol Infect Dis. 2019. PMID: 30174143
Evaluation of venom allergy.
Philipp A, Ferdman RM, Tam JS. Philipp A, et al. Among authors: ferdman rm. Ann Allergy Asthma Immunol. 2016 Oct;117(4):344-347. doi: 10.1016/j.anai.2016.08.012. Ann Allergy Asthma Immunol. 2016. PMID: 27742083 Review. No abstract available.
Hyper IgM Syndrome: a Report from the USIDNET Registry.
Leven EA, Maffucci P, Ochs HD, Scholl PR, Buckley RH, Fuleihan RL, Geha RS, Cunningham CK, Bonilla FA, Conley ME, Ferdman RM, Hernandez-Trujillo V, Puck JM, Sullivan K, Secord EA, Ramesh M, Cunningham-Rundles C. Leven EA, et al. Among authors: ferdman rm. J Clin Immunol. 2016 Jul;36(5):490-501. doi: 10.1007/s10875-016-0291-4. Epub 2016 May 17. J Clin Immunol. 2016. PMID: 27189378 Free PMC article.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
28 results