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Hyper-Immunoglobulin E Syndrome, Autosomal Recessive

MedGen UID:
369829
Concept ID:
C1968689
Disease or Syndrome
Synonyms: Autosomal Recessive HIES; Autosomal Recessive HIESs; HIES, Autosomal Recessive; HIESs, Autosomal Recessive; Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive; Hyper IgE Syndrome, Autosomal Recessive; Hyper Immunoglobulin E Syndrome, Autosomal Recessive; Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive; Hyper-IgE Syndrome, Autosomal Recessive
 
OMIM®: 243700

Recent clinical studies

Etiology

Wu J, Hong L, Chen TX
Curr Allergy Asthma Rep 2018 Aug 15;18(10):51. doi: 10.1007/s11882-018-0806-6. PMID: 30112673
Zhang Q, Boisson B, Béziat V, Puel A, Casanova JL
Mamm Genome 2018 Aug;29(7-8):603-617. Epub 2018 Aug 9 doi: 10.1007/s00335-018-9767-2. PMID: 30094507Free PMC Article
Goel S, Sahu S, Minz RW, Singh S, Suri D, Oh YM, Rawat A, Sehgal S, Saikia B
Front Immunol 2018;9:1080. Epub 2018 May 17 doi: 10.3389/fimmu.2018.01080. PMID: 29868029Free PMC Article
Fan H, Huang L, Yang D, Lin Y, Lu G, Xie Y, Yu J, Zhang D
Medicine (Baltimore) 2018 Apr;97(14):e0215. doi: 10.1097/MD.0000000000010215. PMID: 29620631Free PMC Article
Sasihuseyinoglu AS, Yilmaz M, Altintaş DU, Dogruel D, Serbes M, Uğuz AH, Kiroğlu M
J Pediatr Hematol Oncol 2018 Aug;40(6):e380-e382. doi: 10.1097/MPH.0000000000000954. PMID: 28902078

Diagnosis

Sharma A, Kumar S, Jagia P
Vasc Endovascular Surg 2018 Jul;52(5):375-377. Epub 2018 Mar 18 doi: 10.1177/1538574418762656. PMID: 29552943
Siebrasse EA, Pastrana DV, Nguyen NL, Wang A, Roth MJ, Holland SM, Freeman AF, McDyer J, Buck CB, Wang D
Emerg Infect Dis 2015 Jan;21(1):103-6. doi: 10.3201/eid2101.140855. PMID: 25531075Free PMC Article
Kumánovics A, Wittwer CT, Pryor RJ, Augustine NH, Leppert MF, Carey JC, Ochs HD, Wedgwood RJ, Faville RJ Jr, Quie PG, Hill HR
J Mol Diagn 2010 Mar;12(2):213-9. Epub 2010 Jan 21 doi: 10.2353/jmoldx.2010.090080. PMID: 20093388Free PMC Article
Walsh J, Reardon W
Arch Dis Child 2008 Jan;93(1):65-7. Epub 2007 Sep 5 doi: 10.1136/adc.2007.125443. PMID: 17804589
Tan WM, Kandiah DA, Tan SB
Spine (Phila Pa 1976) 2006 Jun 15;31(14):E471-4. doi: 10.1097/01.brs.0000222025.14483.6d. PMID: 16778678

Therapy

Myles IA, Anderson ED, Earland NJ, Zarember KA, Sastalla I, Williams KW, Gough P, Moore IN, Ganesan S, Fowler CJ, Laurence A, Garofalo M, Kuhns DB, Kieh MD, Saleem A, Welch PA, Darnell DA, Gallin JI, Freeman AF, Holland SM, Datta SK
J Clin Invest 2018 Aug 1;128(8):3595-3604. Epub 2018 Jul 23 doi: 10.1172/JCI121486. PMID: 30035749Free PMC Article
Knoedler TG, Minutillo GT, Steele RW
Clin Pediatr (Phila) 2017 Aug;56(9):882-884. doi: 10.1177/0009922817715951. PMID: 28720031
Gocmen R, Acar NP, Cagdas D, Kurne A
J Neurovirol 2017 Aug;23(4):632-636. Epub 2017 Jun 22 doi: 10.1007/s13365-017-0536-x. PMID: 28643229
Leon JA, Fry LC, Mönkemüller K
Gastroenterology 2015 Dec;149(7):1697-9. Epub 2015 Oct 16 doi: 10.1053/j.gastro.2015.09.048. PMID: 26480885
Tan WM, Kandiah DA, Tan SB
Spine (Phila Pa 1976) 2006 Jun 15;31(14):E471-4. doi: 10.1097/01.brs.0000222025.14483.6d. PMID: 16778678

Prognosis

Goel S, Sahu S, Minz RW, Singh S, Suri D, Oh YM, Rawat A, Sehgal S, Saikia B
Front Immunol 2018;9:1080. Epub 2018 May 17 doi: 10.3389/fimmu.2018.01080. PMID: 29868029Free PMC Article
Fan H, Huang L, Yang D, Lin Y, Lu G, Xie Y, Yu J, Zhang D
Medicine (Baltimore) 2018 Apr;97(14):e0215. doi: 10.1097/MD.0000000000010215. PMID: 29620631Free PMC Article
Castilano A, Watti H, Abdulbaki A, Modi K, Bocchini JA Jr, Bahna SL
Eur Ann Allergy Clin Immunol 2017 Sep;49(5):231-234. doi: 10.23822/EurAnnACI.1764-1489.13. PMID: 28884991
Gocmen R, Acar NP, Cagdas D, Kurne A
J Neurovirol 2017 Aug;23(4):632-636. Epub 2017 Jun 22 doi: 10.1007/s13365-017-0536-x. PMID: 28643229
Leon JA, Fry LC, Mönkemüller K
Gastroenterology 2015 Dec;149(7):1697-9. Epub 2015 Oct 16 doi: 10.1053/j.gastro.2015.09.048. PMID: 26480885

Clinical prediction guides

Goel S, Sahu S, Minz RW, Singh S, Suri D, Oh YM, Rawat A, Sehgal S, Saikia B
Front Immunol 2018;9:1080. Epub 2018 May 17 doi: 10.3389/fimmu.2018.01080. PMID: 29868029Free PMC Article
Arora M, Bagi P, Strongin A, Heimall J, Zhao X, Lawrence MG, Trivedi A, Henderson C, Hsu A, Quezado M, Kleiner DE, Venkatesan AM, Holland SM, Freeman AF, Heller T
J Clin Immunol 2017 Oct;37(7):695-700. Epub 2017 Aug 13 doi: 10.1007/s10875-017-0429-z. PMID: 28803389
Wu J, Chen J, Tian ZQ, Zhang H, Gong RL, Chen TX, Hong L
J Clin Immunol 2017 Feb;37(2):166-179. Epub 2017 Feb 14 doi: 10.1007/s10875-017-0369-7. PMID: 28197791
Leon JA, Fry LC, Mönkemüller K
Gastroenterology 2015 Dec;149(7):1697-9. Epub 2015 Oct 16 doi: 10.1053/j.gastro.2015.09.048. PMID: 26480885
Walsh J, Reardon W
Arch Dis Child 2008 Jan;93(1):65-7. Epub 2007 Sep 5 doi: 10.1136/adc.2007.125443. PMID: 17804589

Recent systematic reviews

Watanabe K, Sakuraya A, Kawakami N, Imamura K, Ando E, Asai Y, Eguchi H, Kobayashi Y, Nishida N, Arima H, Shimazu A, Tsutsumi A
Obes Rev 2018 Nov;19(11):1557-1568. Epub 2018 Jul 25 doi: 10.1111/obr.12725. PMID: 30047228
Mansfield M, Thacker M, Sandford F
Hand (N Y) 2018 Sep;13(5):501-508. Epub 2017 Oct 27 doi: 10.1177/1558944717736398. PMID: 29078710Free PMC Article
Salvagioni DAJ, Melanda FN, Mesas AE, González AD, Gabani FL, Andrade SM
PLoS One 2017;12(10):e0185781. Epub 2017 Oct 4 doi: 10.1371/journal.pone.0185781. PMID: 28977041Free PMC Article
Peters S, Johnston V, Hines S, Ross M, Coppieters M
JBI Database System Rev Implement Rep 2016 Sep;14(9):135-216. doi: 10.11124/JBISRIR-2016-003099. PMID: 27755324
Guglielmi O, Jurado-Gámez B, Gude F, Buela-Casal G
Sleep Breath 2015 Mar;19(1):35-44. Epub 2014 Jun 22 doi: 10.1007/s11325-014-1015-8. PMID: 24952614

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