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Showing results for albert hies
Your search for Albert Hiesl retrieved no results
Allogeneic hematopoietic stem cell transplantation for STAT3 hyper-IgE syndrome: a worldwide study.
Tsilifis C, Raedler J, Renke J, Medinger M, Laberko A, Haraldsson Á, Patel N, Ciznar P, Wong M, Keogh SJ, Gray P, Mitchell R, Bigley V, Elcombe S, Hauck F, Albert MH, Tholouli E, Herwadkar A, Elkhalifa S, Kosmidis C, Callisti G, Burroughs LM, Chen K, Carpenter B, Fox TA, Morris EC, Uppuluri R, Raj R, Yanagimachi M, Buddingh EP, Oikonomopoulou C, Gonzalez C, Dimitrova D, Kanakry JA, Arnold D, Pai SY, Slatter MA, Pearce MS, Worth A, Freeman AF, Gennery AR. Tsilifis C, et al. Blood Adv. 2025 Aug 26;9(16):4126-4135. doi: 10.1182/bloodadvances.2025016158. Blood Adv. 2025. PMID: 40540800 Free PMC article.
We conducted an international multicenter retrospective study of HSCT in STAT3-HIES. Primary end points were overall survival (OS) and event-free survival (EFS; events were death, graft failure, chronic graft-versus-host disease [GVHD]). ...This worldwide study expanded da …
We conducted an international multicenter retrospective study of HSCT in STAT3-HIES. Primary end points were overall survival (OS) an …
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network; Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804. J Exp Med. 2020. PMID: 32207811 Free PMC article.
Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by dominant-negative (DN) STAT3 mutations. Patients suffer from cold staphylococcal lesions and mucocutaneous candidiasis, severe allergy, and skeletal abnormalities. We report 12 patients from 8 unrelated …
Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by dominant-negative (DN) STAT3 mutations. Patients suffer from c …
Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.
Hagl B, Heinz V, Schlesinger A, Spielberger BD, Sawalle-Belohradsky J, Senn-Rauh M, Magg T, Boos AC, Hönig M, Schwarz K, Dückers G, von Bernuth H, Pache C, Karitnig-Weiss C, Belohradsky BH, Frank J, Niehues T, Wahn V, Albert MH, Wollenberg A, Jansson AF, Renner ED. Hagl B, et al. Pediatr Allergy Immunol. 2016 Mar;27(2):177-84. doi: 10.1111/pai.12512. Epub 2016 Jan 26. Pediatr Allergy Immunol. 2016. PMID: 26592211
Despite the availability of confirmatory molecular diagnosis of several distinct HIES entities, the differentiation of HIES particularly from severe forms of atopic dermatitis remains a challenge. ...RESULTS: Existing HIES scoring systems are helpful to ident …
Despite the availability of confirmatory molecular diagnosis of several distinct HIES entities, the differentiation of HIES pa …
Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome.
Harrison SC, Tsilifis C, Slatter MA, Nademi Z, Worth A, Veys P, Ponsford MJ, Jolles S, Al-Herz W, Flood T, Cant AJ, Doffinger R, Barcenas-Morales G, Carpenter B, Hough R, Haraldsson Á, Heimall J, Grimbacher B, Abinun M, Gennery AR. Harrison SC, et al. J Clin Immunol. 2021 Jul;41(5):934-943. doi: 10.1007/s10875-021-00971-2. Epub 2021 Feb 1. J Clin Immunol. 2021. PMID: 33523338 Free PMC article.
Autosomal dominant hyper-IgE syndrome caused by dominant-negative loss-of-function mutations in signal transducer and activator of transcription factor 3 (STAT3) (STAT3-HIES) is a rare primary immunodeficiency with multisystem pathology. The quality of life in patients wit …
Autosomal dominant hyper-IgE syndrome caused by dominant-negative loss-of-function mutations in signal transducer and activator of transcrip …
Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations.
Saghafi S, Zandieh F, Fazlollahi MR, Glocker C, Frede N, Buchta M, Yang L, Mahmoudi AH, Houshmand M, Pourpak Z, Grimbacher B, Moin M. Saghafi S, et al. Iran J Allergy Asthma Immunol. 2022 Jun 18;21(3):355-363. doi: 10.18502/ijaai.v21i3.9809. Iran J Allergy Asthma Immunol. 2022. PMID: 35822685 Free article.
This study aimed to confirm the diagnosis of two cases of autosomal recessive hyper-immunoglobulin E (IgE) syndrome (AR-HIES), presenting with irreversible eye involvement. Two unrelated patients with suspected AR-HIES were referred to the Immunology, Asthma and All …
This study aimed to confirm the diagnosis of two cases of autosomal recessive hyper-immunoglobulin E (IgE) syndrome (AR-HIES), presen …
Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation.
Bittner TC, Pannicke U, Renner ED, Notheis G, Hoffmann F, Belohradsky BH, Wintergerst U, Hauser M, Klein B, Schwarz K, Schmid I, Albert MH. Bittner TC, et al. Klin Padiatr. 2010 Nov;222(6):351-5. doi: 10.1055/s-0030-1265135. Epub 2010 Nov 5. Klin Padiatr. 2010. PMID: 21058221
The autosomal recessive variant (AR-HIES) has similar immunological findings but mainly lacks extraimmune manifestations. Several AR-HIES patients have recently been shown to harbour mutations in the gene for dedicator of cytokinesis 8 (DOCK8). ...
The autosomal recessive variant (AR-HIES) has similar immunological findings but mainly lacks extraimmune manifestations. Several AR- …
The business case for payer support of a community-based health information exchange: a humana pilot evaluating its effectiveness in cost control for plan members seeking emergency department care.
Tzeel A, Lawnicki V, Pemble KR. Tzeel A, et al. Am Health Drug Benefits. 2011 Jul;4(4):207-16. Am Health Drug Benefits. 2011. PMID: 25126351 Free PMC article.
Albert Tzeel. METHODS: The study design was observational, with an eligible population (N = 1482) of fully insured plan members who sought emergency department care on at least 2 occasions during the study period, from December 2008 through March 2010. ...Although many fac …
Albert Tzeel. METHODS: The study design was observational, with an eligible population (N = 1482) of fully insured plan members who s …