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Page 1
Immunologic defects in 22q11.2 deletion syndrome.
McLean-Tooke A, Barge D, Spickett GP, Gennery AR. McLean-Tooke A, et al. J Allergy Clin Immunol. 2008 Aug;122(2):362-7, 367.e1-4. doi: 10.1016/j.jaci.2008.03.033. Epub 2008 May 16. J Allergy Clin Immunol. 2008. PMID: 18485468
An unusual cause of granulomatous disease.
McLean-Tooke AP, Aldridge C, Gilmour K, Higgins B, Hudson M, Spickett GP. McLean-Tooke AP, et al. BMC Clin Pathol. 2007 Mar 2;7:1. doi: 10.1186/1472-6890-7-1. BMC Clin Pathol. 2007. PMID: 17335577 Free PMC article.
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, Montgomery T, Goodship JA, Burt AD, Flood TJ, Abinun M, Cant AJ, Johnson D. Gennery AR, et al. Clin Exp Immunol. 2008 Jul;153(1):75-80. doi: 10.1111/j.1365-2249.2008.03681.x. Epub 2008 May 26. Clin Exp Immunol. 2008. PMID: 18505430 Free PMC article.
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B. Salzer U, et al. Blood. 2009 Feb 26;113(9):1967-76. doi: 10.1182/blood-2008-02-141937. Epub 2008 Nov 3. Blood. 2009. PMID: 18981294 Free PMC article.
64 results