Pathophysiology of eosinophilic esophagitis

KM O'Shea, SS Aceves, ES Dellon, SK Gupta… - Gastroenterology, 2018 - Elsevier
Eosinophilic esophagitis is an emerging disease that is distinguished from
gastroesophageal reflux disease by the expression of a unique esophageal transcriptome …

Endocrine role of bone in the regulation of energy metabolism

R Zhou, Q Guo, Y Xiao, Q Guo, Y Huang, C Li, X Luo - Bone research, 2021 - nature.com
Abstracts Bone mainly functions as a supportive framework for the whole body and is the
major regulator of calcium homeostasis and hematopoietic function. Recently, an increasing …

Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee

SG Tangye, W Al-Herz, A Bousfiha, T Chatila… - Journal of clinical …, 2020 - Springer
We report the updated classification of Inborn Errors of Immunity/Primary
Immunodeficiencies, compiled by the International Union of Immunological Societies Expert …

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

S Spencer, S Köstel Bal, W Egner… - Journal of Experimental …, 2019 - rupress.org
IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted
in clinical practice by immunotherapy that blocks the IL-6 receptor encoded by IL6R. We …

STAT3 hyper-IgE syndrome—an update and unanswered questions

C Tsilifis, AF Freeman, AR Gennery - Journal of clinical immunology, 2021 - Springer
The hyper-IgE syndromes (HIES) are a heterogeneous group of inborn errors of immunity
sharing manifestations including increased infection susceptibility, eczema, and raised …

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function

T Shahin, D Aschenbrenner, D Cagdas, SK Bal… - …, 2018 - pmc.ncbi.nlm.nih.gov
Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-
IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and …

The ups and downs of STAT3 function: too much, too little and human immune dysregulation

J Mackie, CS Ma, SG Tangye… - Clinical and experimental …, 2023 - academic.oup.com
The STAT3 story has almost 30 years of evolving history. First identified in 1994 as a pro-
inflammatory transcription factor, Signal Transducer and Activator of Transcription 3 (STAT3) …

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

T Asano, J Khourieh, P Zhang, F Rapaport… - Journal of Experimental …, 2021 - rupress.org
Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare
heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been …

Primary atopic disorders

JJ Lyons, JD Milner - Journal of Experimental Medicine, 2018 - rupress.org
Monogenic disorders have provided fundamental insights into human immunity and the
pathogenesis of allergic diseases. The pathways identified as critical in the development of …

Inborn errors of immunity manifesting as atopic disorders

M Vaseghi-Shanjani, KL Smith, RJ Sara… - Journal of Allergy and …, 2021 - Elsevier
Inborn errors of immunity are traditionally best known for enhancing susceptibility to
infections. However, allergic inflammation, among other types of immune dysregulation …