Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
BACKGROUND: The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately
60% to 70% of patients with hyper-IgE syndrome have dominant mutations in STAT3, …
60% to 70% of patients with hyper-IgE syndrome have dominant mutations in STAT3, …
DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136 patients
…, J Abbott, D Al-Zahrani, N Rezaei, Z Baz, J Thiel… - Journal of clinical …, 2015 - Springer
Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined
immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and …
immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and …
High-resolution MRI in giant cell arteritis: imaging of the wall of the superficial temporal artery
TA Bley, O Wieben, M Uhl, J Thiel… - American Journal of …, 2005 - Am Roentgen Ray Soc
OBJECTIVE. This study investigated the hypothesis that high-resolution MRI can reveal
mural inflammatory changes of the superficial temporal artery in giant cell arteritis (GCA). …
mural inflammatory changes of the superficial temporal artery in giant cell arteritis (GCA). …
The expansion of human T-bethighCD21low B cells is T cell dependent
…, CL Ku, B Shadur, DT Avery, N Venhoff, J Thiel… - Science …, 2021 - science.org
Accumulation of human CD21 low B cells in peripheral blood is a hallmark of chronic
activation of the adaptive immune system in certain infections and autoimmune disorders. The …
activation of the adaptive immune system in certain infections and autoimmune disorders. The …
Soluble BAFF levels inversely correlate with peripheral B cell numbers and the expression of BAFF receptors
…, J Litzman, M Schlesier, K Warnatz, J Thiel… - The Journal of …, 2012 - journals.aai.org
The TNF family member protein BAFF/BLyS is essential for B cell survival and plays an
important role in regulating class switch recombination as well as in the selection of autoreactive …
important role in regulating class switch recombination as well as in the selection of autoreactive …
Genetic CD21 deficiency is associated with hypogammaglobulinemia
J Thiel, L Kimmig, U Salzer, M Grudzien… - Journal of allergy and …, 2012 - Elsevier
BACKGROUND: Complement receptor 2 (CR2/CD21) is part of the B-cell coreceptor and
expressed by mature B cells and follicular dendritic cells. CD21 is a receptor for C3d-…
expressed by mature B cells and follicular dendritic cells. CD21 is a receptor for C3d-…
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
G Bohn, A Allroth, G Brandes, J Thiel, E Glocker… - Nature medicine, 2007 - nature.com
Lysosome-related organelles have versatile functions, including protein and lipid degradation,
signal transduction and protein secretion. The molecular elucidation of rare congenital …
signal transduction and protein secretion. The molecular elucidation of rare congenital …
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
Background Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined
immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). …
immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). …
[HTML][HTML] Impact of rituximab on immunoglobulin concentrations and B cell numbers after cyclophosphamide treatment in patients with ANCA-associated vasculitides
…, HH Peter, D Lebrecht, M Schlesier, RE Voll, J Thiel - PloS one, 2012 - journals.plos.org
Objective To assess the impact of immunosuppressive therapy with cyclophosphamide (CYC)
and rituximab (RTX) on serum immunoglobulin (Ig) concentrations and B lymphocyte …
and rituximab (RTX) on serum immunoglobulin (Ig) concentrations and B lymphocyte …
Treat-to-target recommendations in giant cell arteritis and polymyalgia rheumatica
…, WA Schmidt, P Seo, JS Smolen, J Thiel… - Annals of the …, 2024 - ard.bmj.com
Objectives To develop treat-to-target (T2T) recommendations in giant cell arteritis (GCA) and
polymyalgia rheumatica (PMR). Methods A systematic literature review was conducted to …
polymyalgia rheumatica (PMR). Methods A systematic literature review was conducted to …