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790 results

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Page 1
Defining a new immune deficiency syndrome: MAN2B2-CDG.
Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E. Verheijen J, et al. Among authors: janssen e. J Allergy Clin Immunol. 2020 Mar;145(3):1008-1011. doi: 10.1016/j.jaci.2019.11.016. Epub 2019 Nov 24. J Allergy Clin Immunol. 2020. PMID: 31775018 Free PMC article.
Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency.
Pai SY, de Boer H, Massaad MJ, Chatila TA, Keles S, Jabara HH, Janssen E, Lehmann LE, Hanna-Wakim R, Dbaibo G, McDonald DR, Al-Herz W, Geha RS. Pai SY, et al. Among authors: janssen e. J Allergy Clin Immunol. 2014 Jul;134(1):221-3. doi: 10.1016/j.jaci.2014.02.023. Epub 2014 Apr 1. J Allergy Clin Immunol. 2014. PMID: 24698323 Free PMC article. No abstract available.
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.
Charbonnier LM, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, Massaad MJ, Garcia-Lloret M, Hanna-Wakim R, Dbaibo G, Alangari AA, Alsultan A, Al-Zahrani D, Geha RS, Chatila TA. Charbonnier LM, et al. Among authors: janssen e. J Allergy Clin Immunol. 2015 Jan;135(1):217-27. doi: 10.1016/j.jaci.2014.10.019. Epub 2014 Nov 17. J Allergy Clin Immunol. 2015. PMID: 25468195 Free PMC article.
WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasis.
Biswas A, Shouval DS, Griffith A, Goettel JA, Field M, Kang YH, Konnikova L, Janssen E, Redhu NS, Thrasher AJ, Chatila T, Kuchroo VK, Geha RS, Notarangelo LD, Pai SY, Horwitz BH, Snapper SB. Biswas A, et al. Among authors: janssen e. Nat Commun. 2018 May 3;9(1):1779. doi: 10.1038/s41467-018-03670-6. Nat Commun. 2018. PMID: 29725003 Free PMC article.
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM. Uzel G, et al. Among authors: janssen e. J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25. J Allergy Clin Immunol. 2013. PMID: 23534974 Free PMC article.
A homozygous truncating mutation of FGL2 is associated with immune dysregulation.
Janssen E, Alosaimi MF, Alazami AM, Alsuliman A, Alaiya A, Al-Saud B, Al-Mousa H, Al-Zaid TJ, Smith E, Platt CD, Alruwaili H, Albanyan S, Al-Mayouf SM, Geha RS. Janssen E, et al. J Allergy Clin Immunol. 2023 Feb;151(2):572-578.e1. doi: 10.1016/j.jaci.2022.10.006. Epub 2022 Oct 13. J Allergy Clin Immunol. 2023. PMID: 36243222
Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells.
Janssen E, Morbach H, Ullas S, Bannock JM, Massad C, Menard L, Barlan I, Lefranc G, Su H, Dasouki M, Al-Herz W, Keles S, Chatila T, Geha RS, Meffre E. Janssen E, et al. J Allergy Clin Immunol. 2014 Dec;134(6):1365-1374. doi: 10.1016/j.jaci.2014.07.042. Epub 2014 Sep 11. J Allergy Clin Immunol. 2014. PMID: 25218284 Free PMC article.
Genetic diagnosis of immune dysregulation can lead to targeted therapy for interstitial lung disease: A case series and single center approach.
Wobma H, Perkins R, Bartnikas L, Dedeoğlu F, Chou J, Vleugels RA, Lo MS, Janssen E, Henderson LA, Whangbo J, Vargas SO, Fishman M, Krone KA, Casey A. Wobma H, et al. Among authors: janssen e. Pediatr Pulmonol. 2022 Jul;57(7):1577-1587. doi: 10.1002/ppul.25924. Epub 2022 May 3. Pediatr Pulmonol. 2022. PMID: 35426264 Free PMC article.
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
Jabara HH, McDonald DR, Janssen E, Massaad MJ, Ramesh N, Borzutzky A, Rauter I, Benson H, Schneider L, Baxi S, Recher M, Notarangelo LD, Wakim R, Dbaibo G, Dasouki M, Al-Herz W, Barlan I, Baris S, Kutukculer N, Ochs HD, Plebani A, Kanariou M, Lefranc G, Reisli I, Fitzgerald KA, Golenbock D, Manis J, Keles S, Ceja R, Chatila TA, Geha RS. Jabara HH, et al. Among authors: janssen e. Nat Immunol. 2012 May 13;13(6):612-20. doi: 10.1038/ni.2305. Nat Immunol. 2012. PMID: 22581261 Free PMC article.
790 results