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Quoted phrase not found in phrase index: "Hyper-IgE recurrent infection syndrome 5, autosomal recessive"
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 …
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 …
Treatment options for DOCK8 deficiency-related severe dermatitis.
Ollech A, Mashiah J, Lev A, Simon AJ, Somech R, Adam E, Barzilai A, Hagin D, Greenberger S. Ollech A, et al. J Dermatol. 2021 Sep;48(9):1386-1393. doi: 10.1111/1346-8138.15955. Epub 2021 May 27. J Dermatol. 2021. PMID: 34043252
BACKGROUND: Cutaneous manifestations of dedicator of cytokinesis 8 gene (DOCK8) deficiency, a combined type of T and B cell immunodeficiency, previously designated as autosomal recessive hyper IgE syndrome, includes dermatitis and skin infection …
BACKGROUND: Cutaneous manifestations of dedicator of cytokinesis 8 gene (DOCK8) deficiency, a combined type of T and B cell immunodeficiency …
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.
Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal Ö, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers G, Al-Herz W, Pai SY, Geha R, Notheis G, Schwarze CP, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH; inborn errors working party of EBMT. Aydin SE, et al. J Clin Immunol. 2015 Feb;35(2):189-98. doi: 10.1007/s10875-014-0126-0. Epub 2015 Jan 28. J Clin Immunol. 2015. PMID: 25627830
Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). ...Severe, life-threatening infections were observed in 79/136 (58 %); severe non-infectious cerebral events occurred in 14/136 (10 …
Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). …
Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.
Kumar Jindal A, Sil A, Aggarwal R, Tyagi R, Mondal S, Singh A, Barman P, Chawla S, Loganathan SK, Gupta K, Vinay K, Mahajan R, Saikia B, Kaur G, Sharma R, Saka R, Bhatia A, Sankhyan N, Pandiarajan V, Pilania R, Dhaliwal M, Sharma S, Vyas S, Suri D, Rawat A, Singh S. Kumar Jindal A, et al. Clin Exp Dermatol. 2024 Feb 14;49(3):226-234. doi: 10.1093/ced/llad345. Clin Exp Dermatol. 2024. PMID: 37815217
Six patients from five families were found to have DOCK8 deficiency. RESULTS: Median age at diagnosis was 7.5 years (range 2-13), with a male/female ratio of 5 : 1. Among the six patients, recurrent eczematous skin lesions were the predominant cutaneous manif …
Six patients from five families were found to have DOCK8 deficiency. RESULTS: Median age at diagnosis was 7.5 years (range 2-13), wit …
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B. Engelhardt KR, et al. J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25. J Allergy Clin Immunol. 2015. PMID: 25724123 Free PMC article.
BACKGROUND: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of th …
BACKGROUND: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal r …
Acquired factor VIII deficiency associated with a novel primary immunodeficiency suggestive of autosomal recessive hyper IgE syndrome.
Ozgur TT, Asal GT, Gurgey A, Tezcan I, Ersoy F, Sanal O. Ozgur TT, et al. J Pediatr Hematol Oncol. 2007 May;29(5):327-9. doi: 10.1097/MPH.0b013e318059c236. J Pediatr Hematol Oncol. 2007. PMID: 17483712
Herein, we present a case of acquired hemophilia resulting from FVIII inhibitors who had underlying undefined PID features suggestive of autosomal recessive hyper IgE syndrome. Our patient responded to corticosteroid treatment rather well and qu …
Herein, we present a case of acquired hemophilia resulting from FVIII inhibitors who had underlying undefined PID features suggestive of …