Publications by authors named "F John John Ballard"

Article Synopsis
  • LCP1 is a gene that encodes L-plastin, an actin-bundling protein important for immune cells, and its deficiency can lead to various blood and immune issues in mice and fish.
  • This study investigated a specific genetic variant of LCP1 found in humans that was linked to an inherited immune deficiency, using genetic and cellular analysis on affected family members as well as engineered mouse and cell models.
  • Results showed that the identified genetic mutation causes significant blood cell reductions and functional defects, highlighting a unique immune disorder marked by issues in neutrophils, lymphocytes, and platelets due to partial LCP1 deficiency.
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Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a clear genetic component. While most SLE patients carry rare gene variants in lupus risk genes, little is known about their contribution to disease pathogenesis. Amongst them, SH2B3-a negative regulator of cytokine and growth factor receptor signaling-harbors rare coding variants in over 5% of SLE patients.

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The expanding number of rare immunodeficiency syndromes offers an opportunity to understand key genes that support immune defense against infectious diseases. However, analysis of these in patients is complicated by their treatments and comorbid infections, requiring the use of mouse models for detailed investigations. We developed a mouse model of DOCK2 immunodeficiency and herein demonstrate that these mice have delayed clearance of herpes simplex virus type 1 (HSV-1) infections.

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CD11c atypical B cells (ABCs) are an alternative memory B cell lineage associated with immunization, infection, and autoimmunity. However, the factors that drive the transcriptional program of ABCs have not been identified, and the function of this population remains incompletely understood. Here, we identified candidate transcription factors associated with the ABC population based on a human tonsillar B cell single-cell dataset.

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Psychiatric patients need educational interventions that help them recover and increase their ability to live and work independently following discharge from the hospital. The psychosocial rehabilitation treatment mall model is designed to meet this educational need. Treatment malls are a new approach to psychosocial rehabilitaion for patients in state psychiatric hospitals.

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