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Quoted phrase not found in phrase index: "Hyper-IgE recurrent infection syndrome 1, autosomal dominant"
Page 1
Hyper-IgE syndrome.
Minegishi Y. Minegishi Y. Curr Opin Immunol. 2009 Oct;21(5):487-92. doi: 10.1016/j.coi.2009.07.013. Epub 2009 Aug 28. Curr Opin Immunol. 2009. PMID: 19717292 Review.
Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Nonimmunological abnormalities, including a …
Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extr …
Inherited human ZNF341 deficiency.
Béziat V, Fieschi C, Momenilandi M, Migaud M, Belaid B, Djidjik R, Puel A. Béziat V, et al. Curr Opin Immunol. 2023 Jun;82:102326. doi: 10.1016/j.coi.2023.102326. Epub 2023 Apr 18. Curr Opin Immunol. 2023. PMID: 37080116 Free PMC article. Review.
Typical hyper-IgE syndromes (HIES) are caused by autosomal-dominant-negative (DN) variants of STAT3 (Signal Transducer And Activator Of Transcription 3) or IL6ST (Interleukin 6 Cytokine Family Signal Transducer), biallelic partial loss-of-function (LOF …
Typical hyper-IgE syndromes (HIES) are caused by autosomal-dominant-negative (DN) variants of STAT3 (Signal Tran …
IL-17 and infections.
Ling Y, Puel A. Ling Y, et al. Actas Dermosifiliogr. 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. Actas Dermosifiliogr. 2014. PMID: 25398490 Free article. Review.
Most patients with autosomal dominant (AD) hyper-IgE syndrome (HIES) due to STAT3 deficiency or AD STAT1 gain-of-function display impaired IL-17-producing T-cell development, and CMC is one of their principal clinical manifestations. Similarly, …
Most patients with autosomal dominant (AD) hyper-IgE syndrome (HIES) due to STAT3 deficiency or AD STAT1 …
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.
Kasap N, Kara A, Celik V, Bilgic Eltan S, Akay Haci I, Kose H, Aygun A, Akkelle E, Yakici N, Guner SN, Reisli I, Keles S, Cekic S, Kilic SS, Karaca NE, Gulez N, Genel F, Ozen A, Yucelten AD, Karakoc-Aydiner E, Schmitz-Abe K, Baris S. Kasap N, et al. J Clin Immunol. 2023 Nov;43(8):1882-1890. doi: 10.1007/s10875-023-01554-z. Epub 2023 Jul 29. J Clin Immunol. 2023. PMID: 37507632
PURPOSE: Autosomal recessive dedicator of cytokinesis 8 (DOCK8(-/-)) and autosomal dominant signal transducer and activator of transcription 3 (STAT3(-/+)) deficiencies are inborn errors of immunity (IEI) disorders present with the classic features of eczema …
PURPOSE: Autosomal recessive dedicator of cytokinesis 8 (DOCK8(-/-)) and autosomal dominant signal transducer and activ …
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.
Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck JM, Sullivan KE, Akhter J, Secord E, Chen K, Buckley R, Haddad E, Ochs HD, Fuleihan R, Routes J, Muskat M, Lugar P, Mancini J, Cunningham-Rundles C. Gernez Y, et al. J Allergy Clin Immunol Pract. 2018 May-Jun;6(3):996-1001. doi: 10.1016/j.jaip.2017.06.041. Epub 2017 Sep 19. J Allergy Clin Immunol Pract. 2018. PMID: 28939137 Free PMC article.
BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. ...Lung abscesses were significantly associated with drug reactions (P chi(2) = .01; odds ratio: 4.03 [1.2-12.97]), depression (P Fisher's exact test = .036) …
BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. ...Lung abscesses were s …
Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome.
Dmitrieva NI, Walts AD, Nguyen DP, Grubb A, Zhang X, Wang X, Ping X, Jin H, Yu Z, Yu ZX, Yang D, Schwartzbeck R, Dalgard CL, Kozel BA, Levin MD, Knutsen RH, Liu D, Milner JD, López DB, O'Connell MP, Lee CR, Myles IA, Hsu AP, Freeman AF, Holland SM, Chen G, Boehm M. Dmitrieva NI, et al. J Clin Invest. 2020 Aug 3;130(8):4167-4181. doi: 10.1172/JCI135490. J Clin Invest. 2020. PMID: 32369445 Free PMC article. Clinical Trial.
There are more than 7000 described rare diseases, most lacking specific treatment. Autosomal-dominant hyper-IgE syndrome (AD-HIES, also known as Job's syndrome) is caused by mutations in STAT3. ...Disease modeling using cell cultur …
There are more than 7000 described rare diseases, most lacking specific treatment. Autosomal-dominant hyper-IgE …
The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.
Chen YH, van Zon S, Adams A, Schmidt-Arras D, Laurence ADJ, Uhlig HH. Chen YH, et al. J Clin Immunol. 2023 Dec 22;44(1):30. doi: 10.1007/s10875-023-01603-7. J Clin Immunol. 2023. PMID: 38133879 Free PMC article. Review.
Loss-of-function variants with (i) biallelic complete loss of GP130 function that presents with extended Stuve-Wiedemann Syndrome; (ii) autosomal recessive hyper-IgE syndrome (HIES) caused by biallelic; and (iii) autosomal dominant …
Loss-of-function variants with (i) biallelic complete loss of GP130 function that presents with extended Stuve-Wiedemann Syndrome; (i …
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.
Bocchini CE, Nahmod K, Katsonis P, Kim S, Kasembeli MM, Freeman A, Lichtarge O, Makedonas G, Tweardy DJ. Bocchini CE, et al. Blood. 2016 Dec 29;128(26):3061-3072. doi: 10.1182/blood-2016-02-702373. Epub 2016 Oct 31. Blood. 2016. PMID: 27799162 Free PMC article.
Autosomal dominant hyper-IgE syndrome (AD-HIES) is caused by dominant-negative mutations in STAT3; however, the molecular basis for mutant STAT3 allele dysfunction is unclear and treatment remains supportive. ...Computer modeling predi …
Autosomal dominant hyper-IgE syndrome (AD-HIES) is caused by dominant-negative mutations in STAT3; …
Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.
Ives ML, Ma CS, Palendira U, Chan A, Bustamante J, Boisson-Dupuis S, Arkwright PD, Engelhard D, Averbuch D, Magdorf K, Roesler J, Peake J, Wong M, Adelstein S, Choo S, Smart JM, French MA, Fulcher DA, Cook MC, Picard C, Durandy A, Tsumura M, Kobayashi M, Uzel G, Casanova JL, Tangye SG, Deenick EK. Ives ML, et al. J Allergy Clin Immunol. 2013 Aug;132(2):400-11.e9. doi: 10.1016/j.jaci.2013.05.029. Epub 2013 Jul 4. J Allergy Clin Immunol. 2013. PMID: 23830147 Free PMC article.
Lymphocytes from patients with loss-of-function mutations in signal transducer and activator of transcription 1 (STAT1), STAT3, or IL-21 receptor (IL21R) were used to assess the respective roles of these genes in human CD8(+) T-cell differentiation in vivo and in vitro. .. …
Lymphocytes from patients with loss-of-function mutations in signal transducer and activator of transcription 1 (STAT1), STAT3, or IL …
STAT3 mutations in the hyper-IgE syndrome.
Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM, Grimbacher B. Holland SM, et al. N Engl J Med. 2007 Oct 18;357(16):1608-19. doi: 10.1056/NEJMoa073687. Epub 2007 Sep 19. N Engl J Med. 2007. PMID: 17881745 Free article.
BACKGROUND: The hyper-IgE syndrome (or Job's syndrome) is a rare disorder of immunity and connective tissue characterized by dermatitis, boils, cyst-forming pneumonias, elevated serum IgE levels, retained primary dentition, and bone abnor …
BACKGROUND: The hyper-IgE syndrome (or Job's syndrome) is a rare disorder of immunity and connective tiss …
24 results