A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors
CARMIL2 deficiency is a rare combined immunodeficiency (CID) characterized by defective
CD28-mediated T cell co-stimulation, altered cytoskeletal dynamics, and susceptibility to …
CD28-mediated T cell co-stimulation, altered cytoskeletal dynamics, and susceptibility to …
Diversity in serine/threonine protein kinase-4 deficiency and review of the literature
Background Serine/threonine kinase-4 (STK4) deficiency is an autosomal recessive
combined immunodeficiency. Objective We aimed to define characteristic clinical and …
combined immunodeficiency. Objective We aimed to define characteristic clinical and …
Expanding IPEX: inborn errors of regulatory T cells
Regulatory T cells (Tregs) play a crucial role in enforcing immune tolerance in the periphery,
preventing the activation of autoreactive cells, production of autoantibodies, and …
preventing the activation of autoreactive cells, production of autoantibodies, and …
Clinical, immunological and molecular findings of patients with DOCK‐8 deficiency from India
V Gowri, A Chougule, M Gupta, P Taur… - Scandinavian …, 2023 - Wiley Online Library
DOCK8 deficiency affects various cell subsets belonging to both the innate and adaptive
immune systems. Clinical diagnosis is challenging, as many cases present with severe …
immune systems. Clinical diagnosis is challenging, as many cases present with severe …
Siglec-6 as a therapeutic target for cell migration and adhesion in chronic lymphocytic leukemia
Siglec-6 is a lectin receptor with restricted expression in the placenta, mast cells and
memory B-cells. Although Siglec-6 is expressed in patients with chronic lymphocytic …
memory B-cells. Although Siglec-6 is expressed in patients with chronic lymphocytic …
Hemolysis inhibits humoral B-cell responses and modulates alloimmunization risk in patients with sickle cell disease
Red blood cell alloimmunization remains a barrier for safe and effective transfusions in
sickle cell disease (SCD), but the associated risk factors remain largely unknown …
sickle cell disease (SCD), but the associated risk factors remain largely unknown …
A new patient with NOCARH syndrome due to CDC42 defect
T He, Y Huang, J Ling, J Yang - Journal of Clinical Immunology, 2020 - Springer
To the editor, CDC42 is a Ras-related GTP-binding protein that plays roles in a variety of
biologic activities including cell adhesion, migration, polarization, proliferation, and …
biologic activities including cell adhesion, migration, polarization, proliferation, and …
Defining patient-level molecular heterogeneity in psoriasis vulgaris based on single-cell transcriptomics
Identifying genetic variation underlying human diseases establishes targets for therapeutic
development and helps tailor treatments to individual patients. Large-scale transcriptomic …
development and helps tailor treatments to individual patients. Large-scale transcriptomic …
RHO to the DOCK for GDP disembarking: Structural insights into the DOCK GTPase nucleotide exchange factors
The human dedicator of cytokinesis (DOCK) family consists of 11 structurally conserved
proteins that serve as atypical RHO guanine nucleotide exchange factors (RHO GEFs) …
proteins that serve as atypical RHO guanine nucleotide exchange factors (RHO GEFs) …
Hallmarks of Cancers: Primary Antibody Deficiency Versus Other Inborn Errors of Immunity
Inborn Errors of Immunity (IEI) comprise more than 450 inherited diseases, from which
selected patients manifest a frequent and early incidence of malignancies, mainly lymphoma …
selected patients manifest a frequent and early incidence of malignancies, mainly lymphoma …