Regulatory T cells: the many faces of Foxp3

P Georgiev, LM Charbonnier, TA Chatila - Journal of clinical immunology, 2019 - Springer
Regulatory T (Treg) cells expressing the transcription factor forkhead box P3 (Foxp3) play a
requisite role in the maintenance of immunological homeostasis and prevention of …

Treg cells in health and autoimmune diseases: New insights from single cell analysis

C Scheinecker, L Göschl, M Bonelli - Journal of autoimmunity, 2020 - Elsevier
Autoimmune diseases, such as Systemic Lupus Erythematosus (SLE) or Rheumatoid
Arthritis (RA) are characterized by the breakdown of immunological tolerance. Defects of …

Human T-bet governs innate and innate-like adaptive IFN-γ immunity against mycobacteria

R Yang, F Mele, L Worley, D Langlais, J Rosain… - Cell, 2020 - cell.com
Inborn errors of human interferon gamma (IFN-γ) immunity underlie mycobacterial disease.
We report a patient with mycobacterial disease due to inherited deficiency of the …

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

IK Chinn, OS Eckstein… - Blood, The Journal …, 2018 - ashpublications.org
The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH), yet
concern exists for their misapplication, resulting in suboptimal treatment of some patients …

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

V Béziat, F Rapaport, J Hu, M Titeux, MB Des Claustres… - Cell, 2021 - cell.com
We study a patient with the human papilloma virus (HPV)-2-driven" tree-man" phenotype
and two relatives with unusually severe HPV4-driven warts. The giant horns form an HPV-2 …

[HTML][HTML] Defective LAT signalosome pathology in mice mimics human IgG4-related disease at single-cell level

A Joachim, R Aussel, L Gélard, F Zhang… - Journal of Experimental …, 2023 - rupress.org
Mice with a loss-of-function mutation in the LAT adaptor (LatY136F) develop an autoimmune
and type 2 inflammatory disorder called defective LAT signalosome pathology (DLSP). We …

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 …

[HTML][HTML] Inborn errors of human B cell development, differentiation, and function

SG Tangye, T Nguyen, EK Deenick, VL Bryant… - Journal of Experimental …, 2023 - rupress.org
B cells develop from hematopoietic stem cells in the bone marrow. Once generated, they
serve multiple roles in immune regulation and host defense. However, their most important …

Actin remodeling defects leading to autoinflammation and immune dysregulation

R Papa, F Penco, S Volpi, M Gattorno - Frontiers in Immunology, 2021 - frontiersin.org
A growing number of monogenic immune-mediated diseases have been related to genes
involved in pathways of actin cytoskeleton remodeling. Increasing evidences associate …

[HTML][HTML] Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

R Lévy, F Gothe, M Momenilandi, T Magg… - Journal of Experimental …, 2023 - rupress.org
Disclosures: J. Raedler reported grants from Foerderprogramm fuer Forschung und Lehre
(FöFoLe), Medical Faculty, LMU Munich, Germany outside the submitted work. A. Fasth …