Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

Autor: Leiding, JW, Okada, S, Hagin, D, Abinun, M, Shcherbina, A, Balashov, DN, Kim, VHD, Ovadia, A, Guthery, SL, Pulsipher, M, Lilic, D, Devlin, LA, Christie, S, Depner, M, Fuchs, S, van Royen-Kerkhof, A, Lindemans, C, Petrovic, A, Sullivan, KE, Bunin, N, Kilic, SS, Arpaci, F, de la Calle-Martin, O, Martinez-Martinez, L, Aldave, JC, Kobayashi, M, Ohkawa, T, Imai, K, Iguchi, A, Roifman, CM, Gennery, AR, Slatter, M, Ochs, HD, Morio, T, Torgerson, TR, Inborn Errors Working Party, European Soc Blood Marrow, Primary Immune Deficiency

Publikováno v: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Background: Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::1af22e603ade6f55ed89266cc666c46e
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3954

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations

Autor: Kavadas, Fd, Giliani, Silvia Clara, Gu, Y, Mazzolari, E, Bates, A, Pegoiani, E, Roifman, Cm, Notarangelo, Luigi Daniele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3662::132eb49531b7cdf1c1af4097e2449f39
http://hdl.handle.net/11379/29463

Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

Autor: Villa A, Notarangelo LD, Roifman CM. J Allergy Clin Immunol. 122:1082-1086, 2008

Publikováno v: Journal of allergy and clinical immunology 122 (2008): 1082–1086. doi:10.1016/j.jaci.2008.09.037
info:cnr-pdr/source/autori:Villa A, Notarangelo LD, Roifman CM. J Allergy Clin Immunol. 122:1082-1086, 2008/titolo:Omenn syndrome: Inflammation in leaky severe combined immunodeficiency./doi:10.1016%2Fj.jaci.2008.09.037/rivista:Journal of allergy and clinical immunology/anno:2008/pagina_da:1082/pagina_a:1086/intervallo_pagine:1082–1086/volume:122

Omenn syndrome (OS) was reported until recently as a distinct form (phenotype and genotype) of severe combined immunodeficiency (SCID). Similar to other patients with SCID, patients with OS present early in infancy with viral or fungal pneumonitis, c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1981d610393da05054facde03d4036c0
https://publications.cnr.it/doc/56029

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