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 …

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 …

DOCK8 deficiency: insights into pathophysiology, clinical features and management

CM Biggs, S Keles, TA Chatila - Clinical Immunology, 2017 - Elsevier
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency
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 …

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 …

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 …

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 …

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

DL Duffy, G Zhu, X Li, M Sanna, MM Iles… - Nature …, 2018 - nature.com
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 …

Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations

Y Wang, CS Ma, Y Ling, A Bousfiha… - Journal of Experimental …, 2016 - rupress.org
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 …

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 …