ImmunoTea Episode 11 - Job's Syndrome and GATA2 deficiency
Nov 20, 2023
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Explore inborn errors of immunity with Job's Syndrome and GATA2 deficiency. Unravel the complexities of STAT3 and its role in inflammation and immune response. Discover the genetic mysteries behind rare syndromes and ongoing research. Delve into antibodies against cytokines and their impact on diseases like COVID. Gain insights into the evolving understanding of STAT3 mutations in immunology.
STAT3 is a central molecule in various pathways, exhibiting a dual role in both pro-inflammatory and anti-inflammatory activities. Its complexity stems from modulating a wide range of activities, including interferon gamma and suppressors of cytokine signaling. This complexity made identifying STAT3 challenging. Mutations in STAT3 manifest as dominant negative, haploinsufficiency, and gain of function types, each leading to different clinical phenotypes and impacts on immune responses.
Insights into Job Syndrome
Job syndrome, named after the biblical figure, presents with recurrent staphylococcal skin infections, pneumonias, scoliosis, retained primary teeth, and other structural abnormalities. Understanding the varied manifestations of Job syndrome, including genetic mutations in STAT3, sheds light on the disease's complexities and the importance of personalized treatment approaches.
GATA2 Mutations and Clinical Implications
GATA2 mutations, leading to disseminated mycobacterial infections and other diverse symptoms, underscore the complexity and heterogeneity of genetic conditions. The discovery of GATA2 mutations through genetic sequencing highlighted a previously unrecognized syndrome, emphasizing the evolving landscape of immunodeficiency disorders and the potential for personalized management approaches.
Future of Immunological Research and Autoimmunity
Immunological research shows promise in exploring autoantibodies against cytokines and other targets, offering insights into autoimmune mechanisms. The identification of novel autoantibodies and their implications in diseases like COVID-19 provide exciting avenues for understanding disease pathogenesis and developing targeted therapies. Ongoing advancements in genetic sequencing and autoimmune research are poised to unveil new dimensions of immunological disorders and therapeutic interventions.
On this episode Lara and Vyanka talk to Dr Steven Holland all about inborn errors of immunity including Job's Syndrome and GATA2 deficiency (MonoMAC). This is ImmunoTea: Your Immunology Podcast, presented by Dr Lara Dungan and Dr Vyanka Redenbaugh. This is the show where we tell you all about the most exciting research going on in the world of immunology. So grab a cup of tea, sit down and relax and we'll fill you in. Contact us at ImmunoTeaPodcast@gmail.com or @ImmunoTea on twitter.