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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: ochs hd. Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8. Cell. 1998. PMID: 9630231 Free article.
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K. Villa A, et al. Blood. 2001 Jan 1;97(1):81-8. doi: 10.1182/blood.v97.1.81. Blood. 2001. PMID: 11133745 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: ochs hd. 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.
X-linked immunodeficiencies.
Ochs HD, Notarangelo LD. Ochs HD, et al. Curr Allergy Asthma Rep. 2004 Sep;4(5):339-48. doi: 10.1007/s11882-004-0082-5. Curr Allergy Asthma Rep. 2004. PMID: 15283872 Review.
WASP and the phenotypic range associated with deficiency.
Notarangelo LD, Notarangelo LD, Ochs HD. Notarangelo LD, et al. Among authors: ochs hd. Curr Opin Allergy Clin Immunol. 2005 Dec;5(6):485-90. doi: 10.1097/01.all.0000191243.25757.ce. Curr Opin Allergy Clin Immunol. 2005. PMID: 16264326 Review.
490 results