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Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.
J Clin Immunol. 2013 Jan;33(1):55-67. doi: 10.1007/s10875-012-9769-x. Epub 2012 Sep 12.
J Clin Immunol. 2013.
PMID: 22968740
PURPOSE: Autosomal recessive hyper-IgE syndrome is a rare combined immunodeficiency characterized by susceptibility to viral infections, atopic eczema, high serum IgE and defective T cell activation. ...Three novel DOCK8 mutations and two large …
PURPOSE: Autosomal recessive hyper-IgE syndrome is a rare combined immunodeficiency characterized by susc …
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 …
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Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Materna-Kiryluk A, Pollak A, Gawalski K, Szczawinska-Poplonyk A, Rydzynska Z, Sosnowska A, Cukrowska B, Gasperowicz P, Konopka E, Pietrucha B, Grzywa TM, Banaszak-Ziemska M, Niedziela M, Skalska-Sadowska J, Stawiński P, Śladowski D, Nowis D, Ploski R.
Materna-Kiryluk A, et al.
Hum Mol Genet. 2021 Apr 26;30(3-4):226-233. doi: 10.1093/hmg/ddab035.
Hum Mol Genet. 2021.
PMID: 33517393
Interleukin-6 signal transducer (IL6ST) encodes the GP130 protein which transduces the proinflammatory signaling of the IL6 cytokine family through Janus kinase signal transducers and activators of transcription pathway (JAK/STAT) activation. Biallelic loss-of-function IL6ST vari …
Interleukin-6 signal transducer (IL6ST) encodes the GP130 protein which transduces the proinflammatory signaling of the IL6 cytokine family …
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