Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
MONDO:0020530Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).
Also known as: IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency, MSMD due to complete IFNgammaR1 deficiency, MSMD due to complete interferon gamma receptor 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1, IFNGR1 deficiency, interferon gamma, receptor 1, deficiency
5 clinical trials for this condition and its sub-types.
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NIH launches major study to unravel genetic metabolic mysteries
Knowledge-focused Recruiting nowThis study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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New online platform aims to help young adults navigate genetic cancer risks
Knowledge-focused Recruiting nowThis study is testing a new online platform called Nest for young adults aged 18-39 who have had genetic testing for cancer risk. The platform gives both patients and their doctors access to updated information about genetic findings. Researchers want to see if the tool is easy t…
Phase: NA • Sponsor: Dana-Farber Cancer Institute • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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Can better conversations prevent cancer? new study investigates
Knowledge-focused Recruiting nowThis study from St. Jude Children's Research Hospital looks at how parents and children (ages 10-24) talk about the child's genetic risk for cancer. The goal is to understand what helps or hinders these conversations, so doctors can create better education programs. The study wil…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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Chatbot vs. counselor: can AI help rural patients get cancer genetic testing?
Knowledge-focused Recruiting nowThis study compares two ways to provide pre-test genetic counseling to people at high risk for hereditary cancers: a chatbot (Genetic Information Assistant) versus a live telegenetics session with a genetic counselor. About 96 participants will be randomly assigned to one method,…
Phase: NA • Sponsor: University of Virginia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC