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Quoted phrase not found in phrase index: "Hyper-IgE recurrent infection syndrome 5, autosomal recessive"
Page 1
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 …
Squamous Cell Carcinoma With Hyper-IgE Syndrome: A Case Report.
Sasihuseyinoglu AS, Yilmaz M, Altintaş DU, Dogruel D, Serbes M, Uğuz AH, Kiroğlu M. Sasihuseyinoglu AS, et al. J Pediatr Hematol Oncol. 2018 Aug;40(6):e380-e382. doi: 10.1097/MPH.0000000000000954. J Pediatr Hematol Oncol. 2018. PMID: 28902078
BACKGROUND: Hyper-immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disease characterized by recurrent infections and elevated levels of serum immunoglobulin E, usually over 2000 IU/mL. ...CONSLUSION: Patients with autosomal recess …
BACKGROUND: Hyper-immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disease characterized by recurrent …
Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.
Abolhassani H, Chou J, Bainter W, Platt CD, Tavassoli M, Momen T, Tavakol M, Eslamian MH, Gharagozlou M, Movahedi M, Ghadami M, Hamidieh AA, Azizi G, Yazdani R, Afarideh M, Ghajar A, Havaei A, Chavoshzadeh Z, Mahdaviani SA, Cheraghi T, Behniafard N, Amin R, Aleyasin S, Faridhosseini R, Jabbari-Azad F, Nabavi M, Bemanian MH, Arshi S, Molatefi R, Sherkat R, Mansouri M, Mesdaghi M, Babaie D, Mohammadzadeh I, Ghaffari J, Shafiei A, Kalantari N, Ahanchian H, Khoshkhui M, Soheili H, Dabbaghzadeh A, Shirkani A, Nasiri Kalmarzi R, Mortazavi SH, Tafaroji J, Khalili A, Mohammadi J, Negahdari B, Joghataei MT, Al-Ramadi BK, Picard C, Parvaneh N, Rezaei N, Chatila TA, Massaad MJ, Keles S, Hammarström L, Geha RS, Aghamohammadi A. Abolhassani H, et al. J Allergy Clin Immunol. 2018 Apr;141(4):1450-1458. doi: 10.1016/j.jaci.2017.06.049. Epub 2017 Sep 12. J Allergy Clin Immunol. 2018. PMID: 28916186

RESULTS: The overall diagnostic yield of the 243 sequenced patients was 77.8% (189 patients). The clinical diagnosis of hyper-IgE syndrome (P < .001), onset of disease at greater than 5 years (P = .02), and absence of multiple affected family member

…
RESULTS: The overall diagnostic yield of the 243 sequenced patients was 77.8% (189 patients). The clinical diagnosis of hyper-IgE …
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). ...Malignancy was diagnosed in 23/136 (17 %) patients (11 hematological and 9 epithelial cancers, 5 other malignancies) at a median …
Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). …
Association between nasal polyposis, Dubowitz syndrome and hyper-IgE syndrome.
Sarmento KM Jr, Tomita S, Caliman e Gurgel JD. Sarmento KM Jr, et al. Int J Pediatr Otorhinolaryngol. 2008 May;72(5):711-4. doi: 10.1016/j.ijporl.2008.01.018. Epub 2008 Mar 10. Int J Pediatr Otorhinolaryngol. 2008. PMID: 18329728
The hyper-immunoglobulin E (hyper-IgE or Job syndrome) is a primary immunodeficiency characterized by recurrent staphylococcal abscesses, recurrent cyst-forming pneumonia, and an elevated serum IgE level of >2000 IU/ml. W …
The hyper-immunoglobulin E (hyper-IgE or Job syndrome) is a primary immunodeficiency characterized by …
The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.
Broides A, Mandola AB, Levy J, Yerushalmi B, Pinsk V, Eldan M, Shubinsky G, Hadad N, Levy R, Nahum A, Ben-Harosh M, Lev A, Simon A, Somech R. Broides A, et al. Immunol Res. 2017 Jun;65(3):651-657. doi: 10.1007/s12026-016-8883-x. Immunol Res. 2017. PMID: 28070732
Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency usually diagnosed as autosomal recessive hyper IgE syndrome. We sought to reveal the varying manifestations in patients with a unique mutation in DOCK8 ge …
Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency usually diagnosed as autosomal recessiv …
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 …
A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever.
Steichen O, van der Hilst J, Simon A, Cuisset L, Grateau G. Steichen O, et al. J Rheumatol. 2009 Aug;36(8):1677-81. doi: 10.3899/jrheum.081313. Epub 2009 Jun 16. J Rheumatol. 2009. PMID: 19531764
OBJECTIVE: The hyperimmunoglobulin D syndrome (HIDS) is an autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase gene. ...RESULTS: The most discriminatory composite clinical criterion satisfied by all patients with HIDS in …
OBJECTIVE: The hyperimmunoglobulin D syndrome (HIDS) is an autosomal recessive autoinflammatory disease caused by mutat …
Severe periodontitis in a 5-year-old girl with hyperimmunoglobulin E syndrome.
Tsang P, Derkson G, Priddy R, Junker AK, Slots J, Larjava H. Tsang P, et al. Pediatr Dent. 2005 Jan-Feb;27(1):68-73. Pediatr Dent. 2005. PMID: 15839398
The hyperimmunoglobulin E syndrome (HIES) is a multisystem disorder that affects the: (1) dentition; (2) skeleton; (3) connective tissues; and (4) immune system. Little is known about periodontal manifestations of the syndrome. The purpose of this report was to desc …
The hyperimmunoglobulin E syndrome (HIES) is a multisystem disorder that affects the: (1) dentition; (2) skeleton; (3) connective tis …