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 …
Signaling pathways involved in the T‐cell‐mediated immunity against Epstein‐Barr virus: Lessons from genetic diseases
S Latour, A Fischer - Immunological Reviews, 2019 - Wiley Online Library
Primary immunodeficiencies (PIDs) provide researchers with unique models to understand
in vivo immune responses in general and immunity to infections in particular. In humans …
in vivo immune responses in general and immunity to infections in particular. In humans …
DOCK8 deficiency: insights into pathophysiology, clinical features and management
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency
that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending …
that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending …
Hyper IgE syndromes: clinical and molecular characteristics
T Al‐Shaikhly, HD Ochs - Immunology and cell biology, 2019 - Wiley Online Library
Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders
characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with …
characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with …
Systemic inflammation and normocytic anemia in DOCK11 deficiency
J Block, C Rashkova, I Castanon, S Zoghi… - … England Journal of …, 2023 - Mass Medical Soc
Background Increasing evidence links genetic defects affecting actin-regulatory proteins to
diseases with severe autoimmunity and autoinflammation, yet the underlying molecular …
diseases with severe autoimmunity and autoinflammation, yet the underlying molecular …
Human inborn errors of immunity to herpes viruses
E Jouanguy, V Béziat, TH Mogensen… - Current opinion in …, 2020 - Elsevier
Infections with any of the nine human herpes viruses (HHV) can be asymptomatic or life-
threatening. The study of patients with severe diseases caused by HHVs, in the absence of …
threatening. The study of patients with severe diseases caused by HHVs, in the absence of …
Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders
F Hauck, R Voss, C Urban, MG Seidel - Journal of Allergy and Clinical …, 2018 - Elsevier
Malignancies occur with a higher incidence rate and manifest earlier in life in patients with
primary immunodeficiency disorders (PIDs) than in the general population. However, no …
primary immunodeficiency disorders (PIDs) than in the general population. However, no …
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
The total number of acquired melanocytic nevi on the skin is strongly correlated with
melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia …
melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia …
Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations
Combined immunodeficiency (CID) refers to inborn errors of human T cells that also affect B
cells because of the T cell deficit or an additional B cell–intrinsic deficit. In this study, we …
cells because of the T cell deficit or an additional B cell–intrinsic deficit. In this study, we …
Inherited immunodeficiencies with high predisposition to Epstein–Barr virus-driven lymphoproliferative diseases
S Latour, S Winter - Frontiers in immunology, 2018 - frontiersin.org
Epstein–Barr Virus (EBV) is a gamma-herpes virus that infects 90% of humans without any
symptoms in most cases, but has an oncogenic potential, especially in immunocompromised …
symptoms in most cases, but has an oncogenic potential, especially in immunocompromised …