Publications by authors named "N Parvaneh"
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.
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- The study focused on diagnosing Acute Flaccid Paralysis (AFP) in children referred to a pediatric emergency unit between 2011 and 2016.
- The most common diagnoses were Guillain-Barré Syndrome (80 cases), acute viral myositis (20 cases), Transverse Myelitis Syndrome (6 cases), and Vaccine-Associated Paralytic Poliomyelitis (6 cases), with all patients testing negative for poliovirus.
- A unique case of a 2.5-month-old patient presented with symptoms compatible with viral meningitis, highlighting the importance of considering a range of diagnoses when evaluating AFP in children.
Article Synopsis
- - C1q deficiency is a rare immune disorder that increases the risk of infections and autoimmune diseases similar to systemic lupus erythematosus (SLE), often leading to various health complications.
- - An international study involving 18 patients evaluated the outcomes of hematopoietic stem cell transplantation (HSCT) for C1q deficiency, showing a 71% overall survival rate and improvement in autoimmune symptoms for most patients.
- - The study highlights that patients with severe autoimmune symptoms have poorer survival rates, and specific antibodies were linked to different organ involvements, emphasizing the need for careful patient selection and risk assessment for HSCT as a treatment option.
Background: Gain of function (GOF) mutations in NOD-like receptor family CARD-containing 4 protein (NLRC4) gene induce a wide spectrum of autoinflammatory phenotypes. Currently, we categorize them into four groups: familial cold autoinflammatory syndrome (FCAS)4, autoinflammatory infantile enterocolitis (AIFEC), NLRC4-macrophage associated syndrome (MAS), and neonatal-onset multisystem inflammatory disease (NOMID). The rarity and complexity of the disease necessitate the description of new cases and a reexamination of our understanding of the condition.
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- The study investigates a specific genetic variant in the IP3 receptor that results in a significant disorder affecting multiple systems, characterized by immunodeficiency and disturbed calcium release in cells.
- The variant (c.7570C>T, p.Arg2524Cys) leads to cellular defects, particularly impacting T cells, and is shown to affect calcium regulation and mitochondrial function, evidenced in laboratory models.
- Patients exhibited a range of symptoms beyond immunodeficiency, such as ectodermal dysplasia and short stature, suggesting that this genetic mutation plays a unique and broader role in disease compared to previously documented cases.