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Page 1
Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening.
Purswani P, Meehan CA, Kuehn HS, Chang Y, Dasso JF, Meyer AK, Ujhazi B, Csomos K, Lindsay D, Alberdi T, Joychan S, Trotter J, Duff C, Ellison M, Bleesing J, Kumanovics A, Comeau AM, Hale JE, Notarangelo LD, Torgersen TR, Ochs HD, Sriaroon P, Oshrine B, Petrovic A, Rosenzweig SD, Leiding JW, Walter JE. Purswani P, et al. Among authors: walter je. Front Pediatr. 2019 Apr 5;7:55. doi: 10.3389/fped.2019.00055. eCollection 2019. Front Pediatr. 2019. PMID: 31024866 Free PMC article.
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, Bonilla FA, Ochs HD, Gelfand EW, Pessach IM, Walter JE, King A, Giliani S, Pai SY, Notarangelo LD. de la Fuente MA, et al. Among authors: walter je. J Allergy Clin Immunol. 2011 Jul;128(1):139-146. doi: 10.1016/j.jaci.2011.03.042. Epub 2011 May 13. J Allergy Clin Immunol. 2011. PMID: 21570718 Free PMC article.
Primary Immune Deficiency Treatment Consortium (PIDTC) report.
Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC; workshop participants. Griffith LM, et al. J Allergy Clin Immunol. 2014 Feb;133(2):335-47. doi: 10.1016/j.jaci.2013.07.052. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139498 Free PMC article.
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD. Lee YN, et al. Among authors: walter je. J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28. J Allergy Clin Immunol. 2014. PMID: 24290284 Free PMC article.
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
Chen K, Wu W, Mathew D, Zhang Y, Browne SK, Rosen LB, McManus MP, Pulsipher MA, Yandell M, Bohnsack JF, Jorde LB, Notarangelo LD, Walter JE. Chen K, et al. Among authors: walter je. J Allergy Clin Immunol. 2014 Mar;133(3):880-2.e10. doi: 10.1016/j.jaci.2013.11.038. Epub 2014 Jan 25. J Allergy Clin Immunol. 2014. PMID: 24472623 Free PMC article. No abstract available.
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Kwan A, et al. Among authors: walter je. JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. JAMA. 2014. PMID: 25138334 Free PMC article.
Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis.
Walter JE, Lo MS, Kis-Toth K, Tirosh I, Frugoni F, Lee YN, Csomos K, Chen K, Pillai S, Dunham J, Tsokos GC, Luning Prak ET, Notarangelo LD. Walter JE, et al. J Allergy Clin Immunol. 2015 Jan;135(1):272-3. doi: 10.1016/j.jaci.2014.07.063. Epub 2014 Oct 11. J Allergy Clin Immunol. 2015. PMID: 25312763 Free PMC article. No abstract available.
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
Buchbinder D, Baker R, Lee YN, Ravell J, Zhang Y, McElwee J, Nugent D, Coonrod EM, Durtschi JD, Augustine NH, Voelkerding KV, Csomos K, Rosen L, Browne S, Walter JE, Notarangelo LD, Hill HR, Kumánovics A. Buchbinder D, et al. Among authors: walter je. J Clin Immunol. 2015 Feb;35(2):119-24. doi: 10.1007/s10875-014-0121-5. Epub 2014 Dec 17. J Clin Immunol. 2015. PMID: 25516070 Free PMC article.
213 results