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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW. Volpi S, et al. Among authors: giliani s. J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. J Allergy Clin Immunol. 2019. PMID: 30771411 Free PMC article. No abstract available.
Structural and functional basis for JAK3-deficient severe combined immunodeficiency.
Candotti F, Oakes SA, Johnston JA, Giliani S, Schumacher RF, Mella P, Fiorini M, Ugazio AG, Badolato R, Notarangelo LD, Bozzi F, Macchi P, Strina D, Vezzoni P, Blaese RM, O'Shea JJ, Villa A. Candotti F, et al. Among authors: giliani s. Blood. 1997 Nov 15;90(10):3996-4003. Blood. 1997. PMID: 9354668 Free article.
Partial V(D)J recombination activity leads to Omenn syndrome.
Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E. Villa A, et al. Among authors: giliani s. Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8. Cell. 1998. PMID: 9630231 Free article.
X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells.
Parolini S, Bottino C, Falco M, Augugliaro R, Giliani S, Franceschini R, Ochs HD, Wolf H, Bonnefoy JY, Biassoni R, Moretta L, Notarangelo LD, Moretta A. Parolini S, et al. Among authors: giliani s. J Exp Med. 2000 Aug 7;192(3):337-46. doi: 10.1084/jem.192.3.337. J Exp Med. 2000. PMID: 10934222 Free PMC article.
160 results