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Quoted phrase not found in phrase index: "Hyper-IgE recurrent infection syndrome 1, autosomal dominant"
Page 1
Hyper-IgE syndromes.
Grimbacher B, Holland SM, Puck JM. Grimbacher B, et al. Immunol Rev. 2005 Feb;203:244-50. doi: 10.1111/j.0105-2896.2005.00228.x. Immunol Rev. 2005. PMID: 15661034 Review.
The hyper-immunoglobulin E (IgE) syndromes (HIES) are primary immunodeficiencies characterized by the clinical triad of recurrent staphylococcal abscesses, recurrent cyst-forming pneumonia, and an elevated serum IgE level of >2000 IU/ml. Most …
The hyper-immunoglobulin E (IgE) syndromes (HIES) are primary immunodeficiencies characterized by the clinical triad of rec …
An Update on Syndromes with a Hyper-IgE Phenotype.
Bergerson JRE, Freeman AF. Bergerson JRE, et al. Immunol Allergy Clin North Am. 2019 Feb;39(1):49-61. doi: 10.1016/j.iac.2018.08.007. Immunol Allergy Clin North Am. 2019. PMID: 30466772 Review.
Improvement in genetic testing has allowed specific delineation of several distinct clinical causes characterized by the hyperimmunoglobulin E (IgE) phenotype of eczema, recurrent infections, and elevated serum IgE. ...This article focuses on loss of function …
Improvement in genetic testing has allowed specific delineation of several distinct clinical causes characterized by the hyperimmunoglobulin …
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 …
Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.
Shamriz O, Rubin L, Simon AJ, Lev A, Barel O, Somech R, Korem M, Matza Porges S, Freund T, Hagin D, Garty BZ, Nahum A, Molho Pessach V, Tal Y. Shamriz O, et al. Front Immunol. 2022 Dec 20;13:1044933. doi: 10.3389/fimmu.2022.1044933. eCollection 2022. Front Immunol. 2022. PMID: 36605204 Free PMC article.
BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) caused by dominant negative (DN) variants in the signal transducer and activator of transcription 3 gene (STAT3) is characterized by recurrent Staphylococcal abscesses, se …
BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) caused by dominant negative (DN) varia …
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. ...The mean serum IgE level was 8383.7 kU/mL and was inversely correlated to the patient's age. ...
BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. ...The mean serum IgE …
Oral ulcerations in a patient with autosomal dominant hyper-IgE syndrome (AD-HIES).
Borst J, Ma L. Borst J, et al. BMJ Case Rep. 2020 Nov 2;13(11):e236705. doi: 10.1136/bcr-2020-236705. BMJ Case Rep. 2020. PMID: 33139362 Free PMC article.
A 23-year-old woman with autosomal dominant hyper-IgE syndrome complicated by recurrent pneumonia and sinusitis presented with 1 week of multiple painful oral ulcers unresponsive to empiric antiviral and antifungal treatment. ...Bi …
A 23-year-old woman with autosomal dominant hyper-IgE syndrome complicated by recurrent pneumonia …
Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.
Wu J, Chen J, Tian ZQ, Zhang H, Gong RL, Chen TX, Hong L. Wu J, et al. J Clin Immunol. 2017 Feb;37(2):166-179. doi: 10.1007/s10875-017-0369-7. Epub 2017 Feb 14. J Clin Immunol. 2017. PMID: 28197791 Review.
PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare complicated primary immunodeficiency disease (PID). ...Eczema, recurrent skin infection, and respiratory tract infection were the most common clinical sympto …
PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare complicated primary immunodeficiency d …
Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.
Jacob M, Masood A, Abdel Rahman AM. Jacob M, et al. Int J Mol Sci. 2023 Jan 26;24(3):2406. doi: 10.3390/ijms24032406. Int J Mol Sci. 2023. PMID: 36768728 Free PMC article.
Hyper-IgE Syndrome (HIES) is a heterogeneous group of primary immune-deficiency disorders characterized by elevated levels of IgE, eczema, and recurrent skin and lung infections. HIES that is autosomally dominant in the signal tran …
Hyper-IgE Syndrome (HIES) is a heterogeneous group of primary immune-deficiency disorders characterized by elevated lev …
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.
Hsu AP, Sowerwine KJ, Lawrence MG, Davis J, Henderson CJ, Zarember KA, Garofalo M, Gallin JI, Kuhns DB, Heller T, Milner JD, Puck JM, Freeman AF, Holland SM. Hsu AP, et al. J Allergy Clin Immunol. 2013 Jun;131(6):1586-93. doi: 10.1016/j.jaci.2013.02.038. Epub 2013 Apr 25. J Allergy Clin Immunol. 2013. PMID: 23623265 Free PMC article.
BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is caused by mutations in signal transducer and activator of transcription 3 (STAT3). ...OBJECTIVE: Somatic mosaics might shed light on the pathogenesis of dominant STAT3 mutatio …
BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is caused by mutations in signal transducer a …
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.
Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, Rieber N, Cremer R, Maass E, Dopfer R, Reichenbach J, Wahn V, Hoenig M, Jansson AF, Roesen-Wolff A, Schaub B, Seger R, Hill HR, Ochs HD, Torgerson TR, Belohradsky BH, Renner ED. Schimke LF, et al. J Allergy Clin Immunol. 2010 Sep;126(3):611-7.e1. doi: 10.1016/j.jaci.2010.06.029. J Allergy Clin Immunol. 2010. PMID: 20816194
BACKGROUND: Hyper-IgE syndromes (HIES) are primary immunodeficiency disorders characterized by Staphylococcus aureus abscesses, recurrent pneumonia, increased serum IgE levels, and eczema. The association of heterozygous signal transducer and activator …
BACKGROUND: Hyper-IgE syndromes (HIES) are primary immunodeficiency disorders characterized by Staphylococcus aureus abscesses …
19 results