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Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.
Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, Chinn IK, Monaco-Shawver L, Heimall J, Hou C, Otieno FG, Jyonouchi S, Calabrese L, van Montfrans J, Orange JS, Hakonarson H. Keller MD, et al. J Allergy Clin Immunol. 2016 Aug;138(2):544-550.e4. doi: 10.1016/j.jaci.2016.01.018. Epub 2016 Mar 23. J Allergy Clin Immunol. 2016. PMID: 27016798 Free PMC article.
Severe combined immunodeficiency resulting from mutations in MTHFD1.
Keller MD, Ganesh J, Heltzer M, Paessler M, Bergqvist AG, Baluarte HJ, Watkins D, Rosenblatt DS, Orange JS. Keller MD, et al. Pediatrics. 2013 Feb;131(2):e629-34. doi: 10.1542/peds.2012-0899. Epub 2013 Jan 6. Pediatrics. 2013. PMID: 23296427
Immunodeficiency in patients with 49,XXXXY chromosomal variation.
Keller MD, Sadeghin T, Samango-Sprouse C, Orange JS. Keller MD, et al. Am J Med Genet C Semin Med Genet. 2013 Feb 15;163C(1):50-4. doi: 10.1002/ajmg.c.31348. Epub 2013 Jan 23. Am J Med Genet C Semin Med Genet. 2013. PMID: 23345259 Free PMC article.
Burden of copy number variation in common variable immunodeficiency.
Keller M, Glessner J, Resnick E, Perez E, Chapel H, Lucas M, Sullivan KE, Cunningham-Rundles C, Orange JS, Hakonarson H. Keller M, et al. Clin Exp Immunol. 2014 Jul;177(1):269-71. doi: 10.1111/cei.12255. Clin Exp Immunol. 2014. PMID: 24329717 Free PMC article.
Practice parameter for the diagnosis and management of primary immunodeficiency.
Bonilla FA, Khan DA, Ballas ZK, Chinen J, Frank MM, Hsu JT, Keller M, Kobrynski LJ, Komarow HD, Mazer B, Nelson RP Jr, Orange JS, Routes JM, Shearer WT, Sorensen RU, Verbsky JW, Bernstein DI, Blessing-Moore J, Lang D, Nicklas RA, Oppenheimer J, Portnoy JM, Randolph CR, Schuller D, Spector SL, Tilles S, Wallace D; Joint Task Force on Practice Parameters, representing the American Academy of Allergy, Asthma & Immunology; the American College of Allergy, Asthma & Immunology; and the Joint Council of Allergy, Asthma & Immunology. Bonilla FA, et al. J Allergy Clin Immunol. 2015 Nov;136(5):1186-205.e1-78. doi: 10.1016/j.jaci.2015.04.049. Epub 2015 Sep 12. J Allergy Clin Immunol. 2015. PMID: 26371839
168 results