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View article: Exposure of volunteers to microgravity by dry immersion bed over 21 days results in gene expression changes and adaptation of T cells
Exposure of volunteers to microgravity by dry immersion bed over 21 days results in gene expression changes and adaptation of T cells Open
The next steps of deep space exploration are manned missions to Moon and Mars. For safe space missions for crew members, it is important to understand the impact of space flight on the immune system. We studied the effects of 21 days dry i…
View article: Characterization of clonal evolution in pediatric lymphoma using single‐cell transcriptomics
Characterization of clonal evolution in pediatric lymphoma using single‐cell transcriptomics Open
Lymphomas are the third most common type of malignancy among children, affecting 10%–15% of all new childhood cancer patients. Lymphomas are divided into three main categories: B (40%) and T (20%) cell lymphomas and Hodgkin lymphomas (HL, …
View article: Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive
Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive Open
CIMD, AB, and KP performed the experiments and analyzed the data.DPL supervised imaging flow cytometry analysis.WS supervised imaging analysis.PV provided XLN
View article: The WASp L272P gain-of-function mutation alters dendritic cell coordination of actin dynamics for migration and adhesion
The WASp L272P gain-of-function mutation alters dendritic cell coordination of actin dynamics for migration and adhesion Open
Dendritic cells (DCs) devoid of the actin regulator Wiskott-Aldrich syndrome protein (WASp) show reduced directed migration and decreased formation of podosome adhesion structures. We examined DCs expressing a gain-of-function mutation in …
View article: Journey to the Center of the Cell: Cytoplasmic and Nuclear Actin in Immune Cell Functions
Journey to the Center of the Cell: Cytoplasmic and Nuclear Actin in Immune Cell Functions Open
Actin cytoskeletal dynamics drive cellular shape changes, linking numerous cell functions to physiological and pathological cues. Mutations in actin regulators that are differentially expressed or enriched in immune cells cause severe huma…
View article: Constitutive activation of WASp leads to abnormal cytotoxic cells with increased granzyme B and degranulation response to target cells
Constitutive activation of WASp leads to abnormal cytotoxic cells with increased granzyme B and degranulation response to target cells Open
X-linked neutropenia (XLN) is caused by gain-of-function mutations in the actin regulator Wiskott-Aldrich Syndrome protein (WASp). XLN patients have reduced numbers of cytotoxic cells in peripheral blood; however, their capacity to kill tu…
View article: CD73 immune checkpoint defines regulatory NK cells within the tumor microenvironment
CD73 immune checkpoint defines regulatory NK cells within the tumor microenvironment Open
High levels of ecto-5'-nucleotidase (CD73) have been implicated in immune suppression and tumor progression, and have also been observed in cancer patients who progress on anti-PD-1 immunotherapy. Although regulatory T cells can express CD…
View article: An intronic deletion in megakaryoblastic leukemia 1 is associated with hyperproliferation of B cells in triplets with Hodgkin lymphoma
An intronic deletion in megakaryoblastic leukemia 1 is associated with hyperproliferation of B cells in triplets with Hodgkin lymphoma Open
Megakaryoblastic leukemia 1 (MKL1) is a coactivator of serum response factor and together they regulate transcription of actin cytoskeleton genes. MKL1 is associated with hematologic malignancies and immunodeficiency, but its role in B cel…
View article: Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive
Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive Open
Congenital neutropenia is characterized by low absolute neutrophil numbers in blood, leading to recurrent bacterial infections, and patients often require life-long granulocyte CSF (G-CSF) support. X-linked neutropenia (XLN) is caused by g…
View article: Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene <i>WDR1 </i>
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene <i>WDR1 </i> Open
The importance of actin dynamics in the activation of the inflammasome is becoming increasingly apparent. IL-1β, which is activated by the inflammasome, is known to be central to the pathogenesis of many monogenic autoinflammatory diseases…
View article: Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I
Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I Open
Leukocyte adhesion deficiency type I (LAD-I) is a primary immunodeficiency caused by mutations in the ITGB2 gene and is characterized by recurrent and life-threatening bacterial infections. These mutations lead to defective or absent expre…
View article: Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1
Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1 Open
Key Points MKL1 deficiency results in actin cytoskeletal disruption in myeloid and lymphoid cell lineages. MKL1 deficiency impairs neutrophil migration associated with downregulation of myosin II.