Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a
central role in the pathophysiology of allergic inflammation. We have identified 16 patients …
central role in the pathophysiology of allergic inflammation. We have identified 16 patients …
A germline STAT6 gain-of-function variant is associated with early-onset allergies
N Suratannon, C Ittiwut, WA Dik, R Ittiwut… - Journal of Allergy and …, 2023 - Elsevier
Background The signal transducer and activator of transcription 6 (STAT6) signaling
pathway plays a central role in allergic inflammation. To date, however, there have been no …
pathway plays a central role in allergic inflammation. To date, however, there have been no …
STAT6 gain-of-function variant exacerbates multiple allergic symptoms
I Takeuchi, K Yanagi, S Takada, T Uchiyama… - Journal of Allergy and …, 2023 - Elsevier
Background Allergic diseases were long considered to be complex multifactorial disorders.
However, recent findings indicate that severe allergic inflammation can be caused by …
However, recent findings indicate that severe allergic inflammation can be caused by …
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
Background Inborn errors of immunity have been implicated in causing immune
dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses …
dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses …
STAT4: Genetics, mechanisms, and implications for autoimmunity
Recent advances in genetics and technology have led to breakthroughs in understanding
the genes that predispose individuals to autoimmune diseases. A common haplotype of the …
the genes that predispose individuals to autoimmune diseases. A common haplotype of the …
[HTML][HTML] The STAT5b pathway defect and autoimmunity
The signal transducer and activator of transcription (STAT) 5b is a universal transcription
factor that plays key biological roles in allergic diseases, immunodeficiencies …
factor that plays key biological roles in allergic diseases, immunodeficiencies …
The ups and downs of STAT3 function: too much, too little and human immune dysregulation
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) …
inflammatory transcription factor, Signal Transducer and Activator of Transcription 3 (STAT3) …
Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation
AM Siegel, KD Stone, G Cruse, MG Lawrence… - Journal of allergy and …, 2013 - Elsevier
Background Severe atopic conditions associated with elevated serum IgE are
heterogeneous with few known causes. Nearly every patient with autosomal-dominant hyper …
heterogeneous with few known causes. Nearly every patient with autosomal-dominant hyper …
Novel dinucleotide repeat polymorphism in the first exon of the STAT‐6 gene is associated with allergic diseases
K Tamura, H Arakawa, M Suzuki… - Clinical & …, 2001 - Wiley Online Library
Background T helper‐type 2 cytokines, such as interleukin‐4 (IL‐4) and IL‐13, may play a
central role in allergic diseases. The protein known as 'signal transducers and activators of …
central role in allergic diseases. The protein known as 'signal transducers and activators of …
[HTML][HTML] A gain-of-function mutation in STAT6
C Daniel, A Salvekar, U Schindler - Journal of Biological Chemistry, 2000 - ASBMB
Interleukin-4 (IL-4) is a cytokine that plays a crucial role in the pathophysiology of asthma
and allergic diseases. IL-4-induced gene expression is largely mediated through the …
and allergic diseases. IL-4-induced gene expression is largely mediated through the …