[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 …

Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity

G Sogkas, F Atschekzei, IR Adriawan… - Cellular & Molecular …, 2021 - nature.com
In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …

A Stk4-Foxp3–NF-κB p65 transcriptional complex promotes Treg cell activation and homeostasis

Y Cui, M Benamar, K Schmitz-Abe… - Science …, 2022 - science.org
The molecular programs involved in regulatory T (Treg) cell activation and homeostasis
remain incompletely understood. Here, we show that T cell receptor (TCR) signaling in Treg …

[PDF][PDF] Multiplexed functional assessment of genetic variants in CARD11

I Meitlis, EJ Allenspach, BM Bauman, IQ Phan… - The American Journal of …, 2020 - cell.com
Genetic testing has increased the number of variants identified in disease genes, but the
diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an …

Dectin-1 signaling coordinates innate and adaptive immunity for potent host defense against viral infection

HW Kim, MK Ko, SH Park, SY Hwang, DH Kim… - Frontiers in …, 2023 - frontiersin.org
Background Most commercial foot-and-mouth disease (FMD) vaccines have various
disadvantages, such as low antibody titers, short-lived effects, compromised host defense …

Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency

HY Lu, M Sharma, AA Sharma, A Lacson… - Journal of Allergy and …, 2021 - Elsevier
Background Germline pathogenic variants impairing the caspase recruitment domain family
member 11 (CARD11)–B cell chronic lymphocytic leukemia/lymphoma 10 (BCL10)–MALT1 …

[HTML][HTML] Inborn errors of immunity with atopic phenotypes: a practical guide for allergists

R Castagnoli, V Lougaris, G Giardino, S Volpi… - World Allergy …, 2021 - Elsevier
Inborn errors of immunity (IEI) are a heterogeneous group of disorders, mainly resulting from
mutations in genes associated with immunoregulation and immune host defense. These …

Clinical and immunological features of human BCL10 deficiency

B Garcia-Solis, A Van Den Rym… - Frontiers in …, 2021 - frontiersin.org
The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human
immune responses. The clinical and immunological consequences of deficiencies in some …

Hyper-IgE and carcinoma in CADINS disease

L Pietzsch, J Körholz, F Boschann, M Sergon… - Frontiers in …, 2022 - frontiersin.org
Background Atopic dermatitis (AD) affects up to 25% of children and 10% of adults in
Western countries. When severe or recurrent infections and exceedingly elevated serum IgE …

The role of the CBM complex in allergic inflammation and disease

SB DeVore, GKK Hershey - Journal of Allergy and Clinical Immunology, 2022 - Elsevier
The caspase activation and recruitment domain-coiled-coil (CARD-CC) family of proteins—
CARD9, CARD10, CARD11, and CARD14—is collectively expressed across nearly all …