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Page 1
Comèl-Netherton syndrome defined as primary immunodeficiency.
Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, Markert ML, Stiehm ER, Belohradsky BH, Upton MP, Torgerson TR, Orange JS, Ochs HD. Renner ED, et al. J Allergy Clin Immunol. 2009 Sep;124(3):536-43. doi: 10.1016/j.jaci.2009.06.009. Epub 2009 Aug 14. J Allergy Clin Immunol. 2009. PMID: 19683336 Free PMC article.
WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).
de la Fuente MA, Sasahara Y, Calamito M, Antón IM, Elkhal A, Gallego MD, Suresh K, Siminovitch K, Ochs HD, Anderson KC, Rosen FS, Geha RS, Ramesh N. de la Fuente MA, et al. Proc Natl Acad Sci U S A. 2007 Jan 16;104(3):926-31. doi: 10.1073/pnas.0610275104. Epub 2007 Jan 9. Proc Natl Acad Sci U S A. 2007. PMID: 17213309 Free PMC article.
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
Renner ED, Rylaarsdam S, Anover-Sombke S, Rack AL, Reichenbach J, Carey JC, Zhu Q, Jansson AF, Barboza J, Schimke LF, Leppert MF, Getz MM, Seger RA, Hill HR, Belohradsky BH, Torgerson TR, Ochs HD. Renner ED, et al. J Allergy Clin Immunol. 2008 Jul;122(1):181-7. doi: 10.1016/j.jaci.2008.04.037. J Allergy Clin Immunol. 2008. PMID: 18602572 Free PMC 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. 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.
Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study.
Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, Cant AJ, Thrasher AJ, Cowan MJ, Albert MH, Small T, Pai SY, Haddad E, Lisa A, Hambleton S, Slatter M, Cavazzana-Calvo M, Mahlaoui N, Picard C, Torgerson TR, Burroughs L, Koliski A, Neto JZ, Porta F, Qasim W, Veys P, Kavanau K, Hönig M, Schulz A, Friedrich W, Notarangelo LD. Moratto D, et al. Blood. 2011 Aug 11;118(6):1675-84. doi: 10.1182/blood-2010-11-319376. Epub 2011 Jun 9. Blood. 2011. PMID: 21659547 Free PMC article.