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Page 1
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Tangye SG, et al. Among authors: somech r. J Clin Immunol. 2021 Apr;41(3):666-679. doi: 10.1007/s10875-021-00980-1. Epub 2021 Feb 18. J Clin Immunol. 2021. PMID: 33598806 Free PMC article. Review.
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena M, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD. Dobbs K, et al. Among authors: somech r. Front Immunol. 2017 Jul 17;8:798. doi: 10.3389/fimmu.2017.00798. eCollection 2017. Front Immunol. 2017. PMID: 28769923 Free PMC article.
Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication.
Aghamohammadi A, Abolhassani H, Kutukculer N, Wassilak SG, Pallansch MA, Kluglein S, Quinn J, Sutter RW, Wang X, Sanal O, Latysheva T, Ikinciogullari A, Bernatowska E, Tuzankina IA, Costa-Carvalho BT, Franco JL, Somech R, Karakoc-Aydiner E, Singh S, Bezrodnik L, Espinosa-Rosales FJ, Shcherbina A, Lau YL, Nonoyama S, Modell F, Modell V; JMF Centers Network Investigators and Study Collaborators; Barbouche MR, McKinlay MA. Aghamohammadi A, et al. Among authors: somech r. Front Immunol. 2017 Jun 13;8:685. doi: 10.3389/fimmu.2017.00685. eCollection 2017. Front Immunol. 2017. PMID: 28952612 Free PMC article.
Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena MT, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD. Dobbs K, et al. Among authors: somech r. Front Immunol. 2017 Oct 10;8:1244. doi: 10.3389/fimmu.2017.01244. eCollection 2017. Front Immunol. 2017. PMID: 29042861 Free PMC article.
T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.
Stepensky P, Keller B, Shamriz O, von Spee-Mayer C, Friedmann D, Shadur B, Unger S, Fuchs S, NaserEddin A, Rumman N, Amro S, Molho Pessach V, Abuzaitoun O, Somech R, Elpeleg O, Ehl S, Warnatz K. Stepensky P, et al. Among authors: somech r. J Clin Immunol. 2018 May;38(4):527-536. doi: 10.1007/s10875-018-0514-y. Epub 2018 Jun 9. J Clin Immunol. 2018. PMID: 29948574
Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
Somekh I, Marquardt B, Liu Y, Rohlfs M, Hollizeck S, Karakukcu M, Unal E, Yilmaz E, Patiroglu T, Cansever M, Frizinsky S, Vishnvenska-Dai V, Rechavi E, Stauber T, Simon AJ, Lev A, Klein C, Kotlarz D, Somech R. Somekh I, et al. Among authors: somech r. J Clin Immunol. 2018 Aug;38(6):699-710. doi: 10.1007/s10875-018-0533-8. Epub 2018 Jul 20. J Clin Immunol. 2018. PMID: 30030704
Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
Somekh I, Marquardt B, Liu Y, Rohlfs M, Hollizeck S, Karakukcu M, Unal E, Yilmaz E, Patiroglu T, Cansever M, Frizinsky S, Vishnvenskia-Dai V, Rechavi E, Stauber T, Simon AJ, Lev A, Klein C, Kotlarz D, Somech R. Somekh I, et al. Among authors: somech r. J Clin Immunol. 2018 Aug;38(6):711. doi: 10.1007/s10875-018-0541-8. J Clin Immunol. 2018. PMID: 30099695
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Álvarez-Álvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupré L, Bustamante J, Gattorno M, Aiuti A. Brigida I, et al. Among authors: somech r. Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25. Blood. 2018. PMID: 30254128 Free PMC article.
204 results