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 …
sharing manifestations including increased infection susceptibility, eczema, and raised …
JAKs and STATs from a clinical perspective: loss-of-function mutations, gain-of-function mutations, and their multidimensional consequences
N Ott, L Faletti, M Heeg, V Andreani… - Journal of clinical …, 2023 - Springer
The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in
development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT …
development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT …
[HTML][HTML] Main human inborn errors of immunity leading to fungal infections
Background The host's molecular and genetic features are essential in providing
susceptibility to a broad spectrum of fungal infections; most of these do not cause disease in …
susceptibility to a broad spectrum of fungal infections; most of these do not cause disease in …
Transcription factor defects in inborn errors of immunity with atopy
Transcription factors (TFs) are critical components involved in regulating immune system
development, maintenance, and function. Monogenic defects in certain TFs can therefore …
development, maintenance, and function. Monogenic defects in certain TFs can therefore …
Hyper IgE syndromes: a clinical approach
Abstract Hyper IgE syndromes (HIESs) are a group of rare inborn errors of immunity with a
triad of eczema, increase susceptibility to sinopulmonary and skin infections with high level …
triad of eczema, increase susceptibility to sinopulmonary and skin infections with high level …
Disseminated Talaromyces marneffei Infection With STAT3-Hyper-IgE Syndrome: A Case Series and Literature Review
Z Li, J Yang, Y Qiu, F Yang, M Tang, S Li… - Open Forum …, 2023 - academic.oup.com
Background Little is known about the clinical characteristics of talaromycosis with hyper–
immunoglobulin E syndrome (HIES). Methods We conducted a multicenter retrospective …
immunoglobulin E syndrome (HIES). Methods We conducted a multicenter retrospective …
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations
PB Lobo, P Guisado-Hernández, I Villaoslada… - Journal of clinical …, 2022 - Springer
Purpose STAT1 gain-of-function (GOF) and dominant-negative (DN) STAT3 syndromes
share clinical manifestations including infectious and inflammatory manifestations. Targeted …
share clinical manifestations including infectious and inflammatory manifestations. Targeted …
Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement
C Giancotta, N Colantoni, L Pacillo, V Santilli… - Frontiers in …, 2023 - frontiersin.org
Inborn errors of immunity associated with atopy (IEIs-A) are a group of inherited monogenic
disorders that occur with immune dysregulation and frequent skin involvement. Several …
disorders that occur with immune dysregulation and frequent skin involvement. Several …
Inborn errors of immunity causing pediatric susceptibility to fungal diseases
Inborn errors of immunity are a heterogeneous group of genetically determined disorders
that compromise the immune system, predisposing patients to infections, autoinflammatory …
that compromise the immune system, predisposing patients to infections, autoinflammatory …
STAT3 mutation-associated airway epithelial defects in Job syndrome
Y Zhang, T Lin, HM Leung, C Zhang… - Journal of Allergy and …, 2023 - Elsevier
Background Job syndrome is a disease of autosomal dominant hyper-IgE syndrome (AD-
HIES). Patients harboring STAT3 mutation are particularly prone to airway remodeling and …
HIES). Patients harboring STAT3 mutation are particularly prone to airway remodeling and …