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 …

Resistance mutations to BTK inhibitors originate from the NF-κB but not from the PI3K-RAS-MAPK arm of the B cell receptor signaling pathway

CIE Smith, JA Burger - Frontiers in immunology, 2021 - frontiersin.org
Since the first clinical report in 2013, inhibitors of the intracellular kinase BTK (BTKi) have
profoundly altered the treatment paradigm of B cell malignancies, replacing chemotherapy …

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

M Sharma, D Leung, M Momenilandi… - Journal of Experimental …, 2023 - rupress.org
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a
central role in the pathophysiology of allergic inflammation. We have identified 16 patients …

Safety and efficacy of the mRNA BNT162b2 vaccine against SARS-CoV-2 in five groups of immunocompromised patients and healthy controls in a prospective open …

P Bergman, O Blennow, L Hansson, S Mielke… - …, 2021 - thelancet.com
Background Patients with immunocompromised disorders have mainly been excluded from
clinical trials of vaccination against COVID-19. Thus, the aim of this prospective clinical trial …

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 …

CARD11 regulates the thymic Treg development in an NF-κB-independent manner

Y Hu, L Han, W Xu, T Li, Q Zhao, W Lu, J Sun… - Frontiers in …, 2024 - frontiersin.org
Introduction CARD11 is a lymphoid lineage-specific scaffold protein regulating the NF-κB
activation downstream of the antigen receptor signal pathway. Defective CARD11 function …

Advances in molecular characterization of myeloid proliferations associated with Down syndrome

J Li, ML Kalev-Zylinska - Frontiers in genetics, 2022 - frontiersin.org
Myeloid leukemia associated with Down syndrome (ML-DS) has a unique molecular
landscape that differs from other subtypes of acute myeloid leukemia. ML-DS is often …

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy

M Sharma, MP Fu, HY Lu, AA Sharma… - Blood, The Journal …, 2022 - ashpublications.org
The discovery of humans with monogenic disorders has a rich history of generating new
insights into biology. Here we report the first human identified with complete deficiency of …

CARMA3: A potential therapeutic target in non-cancer diseases

Z Gui, Y Zhang, A Zhang, W **a, Z Jia - Frontiers in Immunology, 2022 - frontiersin.org
Caspase recruitment domain and membrane-associated guanylate kinase-like protein 3
(CARMA3) is a scaffold protein widely expressed in non-hematopoietic cells. It is encoded …

Pathway-specific defects in T, B, and NK cells and age-dependent development of high IgE in mice heterozygous for a CADINS-associated dominant negative …

SM Hutcherson, JR Bedsaul… - The Journal of …, 2021 - journals.aai.org
CARD11 is a multidomain scaffold protein required for normal activation of NF-κB, JNK, and
mTOR during Ag receptor signaling. Germline CARD11 mutations cause at least three types …