Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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Chen JH, Arceri T, Datta R, Sullivan KE. Delayed post-COVID-19 hemophagocytic lymphohistiocytosis in patient with XIAP deficiency. Pediatr Allergy Immunol. 2023 09; 34(9):e14028.
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Hernandez-Trujillo V, Zhou C, Scalchunes C, Ochs HD, Sullivan KE, Cunningham-Rundles C, Fuleihan RL, Bonilla FA, Petrovic A, Rawlings DJ, de la Morena MT. A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA. J Clin Immunol. 2023 08; 43(6):1468-1477.
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O'Toole D, Groth D, Wright H, Bonilla FA, Fuleihan RL, Cunningham-Rundles C, Sullivan KE, Ochs HD, Marsh R, Feuille E. X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry. J Clin Immunol. 2022 05; 42(4):827-836.
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Baxter SK, Walsh T, Casadei S, Eckert MM, Allenspach EJ, Hagin D, Segundo G, Lee MK, Gulsuner S, Shirts BH, Sullivan KE, Keller MD, Torgerson TR, King MC. Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management. J Allergy Clin Immunol. 2022 01; 149(1):327-339.
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Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acu?a P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, M?ller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018 02 22; 172(5):897-909.e21.
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Bearden D, Collett M, Quan PL, Costa-Carvalho BT, Sullivan KE. Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology and Therapy. J Allergy Clin Immunol Pract. 2016 Nov - Dec; 4(6):1059-1065.
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Kelsen JR, Dawany N, Martinez A, Martinez A, Grochowski CM, Maurer K, Rappaport E, Piccoli DA, Baldassano RN, Mamula P, Sullivan KE, Devoto M. A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report. BMC Gastroenterol. 2015 Nov 18; 15:160.
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Hernandez-Trujillo VP, Scalchunes C, Cunningham-Rundles C, Ochs HD, Bonilla FA, Paris K, Yel L, Sullivan KE. Autoimmunity and inflammation in X-linked agammaglobulinemia. J Clin Immunol. 2014 Aug; 34(6):627-32.
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Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet. 2013 Sep 05; 93(3):506-14.
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Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10; 90(2):331-9.