Hyper IgE syndrome diagnosed in early infancy by gene analysis of STAT3 mutation

2011 ◽  
Vol 21 (2) ◽  
pp. 254-255
Author(s):  
Akira WATARAI ◽  
Shiro NIIYAMA ◽  
Miho MORITA ◽  
Yuki BANDO ◽  
Yoshiyuki MINEGISHI ◽  
...  
Keyword(s):  
Early Infancy ◽  
Gene Analysis ◽  
Hyper Ige Syndrome ◽  
Stat3 Mutation

scholarly journals A Novel STAT3 Mutation in a Patient with Hyper-IgE Syndrome Diagnosed with a Severe Necrotizing Pulmonary Infection

2021 ◽  
Vol Volume 14 ◽  
pp. 219-227
Author(s):  
Ran Zhao ◽  
Chao Wang ◽  
Chao Sun ◽  
Kun Jiang ◽  
Shengnan Wu ◽  
...  
Keyword(s):  
Pulmonary Infection ◽  
Hyper Ige Syndrome ◽  
Stat3 Mutation

Novel STAT3 Mutation Causing Hyper-IgE Syndrome: Studies of the Clinical Course and Immunopathology

2014 ◽  
Vol 34 (4) ◽  
pp. 469-477 ◽  
Author(s):  
Mikael Sundin ◽  
Bianca Tesi ◽  
Maria Sund Böhme ◽  
Yenan T. Bryceson ◽  
Katrin Pütsep ◽  
...  
Keyword(s):  
Clinical Course ◽  
Hyper Ige Syndrome ◽  
Stat3 Mutation

scholarly journals Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Lixin Xie ◽  
Xiaoxiang Hu ◽  
Yang Li ◽  
Weihua Zhang ◽  
Liang'an Chen
Keyword(s):  
Autosomal Dominant ◽  
Immunoglobulin E ◽  
Mainland China ◽  
High Serum ◽  
Deciduous Teeth ◽  
Autosomal Dominant Trait ◽  
Hyper Ige Syndrome ◽  
Stat3 Mutation ◽  
Transcription 3 ◽  
Human Signal

Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities. Itis reported that some cases of familial HIES are relative to autosomal dominant or recessive inheritance, but most cases are sporadic, and result from mutations in the human signal transducer and activator of transcription 3 (STAT3) gene. In this paper, we firstly report a young man diagnosed of Hyper-IgE syndrome with STAT3 mutation in Mainland China, and investigate the autosomal dominant trait of his family members.

scholarly journals A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome

2019 ◽  
Vol 7 ◽  
Author(s):  
Natalia S. Chaimowitz ◽  
Justin Branch ◽  
Anaid Reyes ◽  
Alexander Vargas-Hernández ◽  
Jordan S. Orange ◽  
...  
Keyword(s):  
Hyper Ige Syndrome ◽  
Stat3 Mutation

scholarly journals Paucity of genotype–phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES)

2011 ◽  
Vol 139 (1) ◽  
pp. 75-84 ◽  
Author(s):  
Jennifer Heimall ◽  
Joie Davis ◽  
Pamela A. Shaw ◽  
Amy P. Hsu ◽  
Wenjuan Gu ◽  
...  
Keyword(s):  
Hyper Ige Syndrome ◽  
Stat3 Mutation

Diffuse Large B Cell Lymphoma in Hyper-IgE Syndrome Due To STAT3 Mutation

2010 ◽  
Vol 30 (6) ◽  
pp. 886-893 ◽  
Author(s):  
Attila Kumánovics ◽  
Sherrie L. Perkins ◽  
Heather Gilbert ◽  
Melissa H. Cessna ◽  
Nancy H. Augustine ◽  
...  
Keyword(s):  
B Cell ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Hyper Ige Syndrome ◽  
Large B Cell Lymphoma ◽  
Stat3 Mutation ◽  
Large B Cell

Cerebral aneurysm in a 12-year-old boy with a STAT3 mutation (hyper-IgE syndrome)

2015 ◽  
Vol 114 (5) ◽  
pp. 430-431 ◽  
Author(s):  
Yoon Kim ◽  
Jillian A. Nard ◽  
Ali Saad ◽  
Jason Casselman ◽  
Kathryn Ruda Wessell ◽  
...  
Keyword(s):  
Cerebral Aneurysm ◽  
Hyper Ige Syndrome ◽  
Stat3 Mutation
Sign in / Sign up

Export Citation Format

Share Document