Overview
Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency (sometimes called MSMD due to RORγ deficiency) is a very rare inherited immune system disorder. It is caused by mutations in the RORC gene, which provides instructions for making a protein called ROR-gamma (RORγ). This protein plays a critical role in helping the immune system fight off certain types of bacteria, particularly mycobacteria — a group that includes the bacteria responsible for tuberculosis and leprosy, as well as environmental (non-tuberculosis) mycobacteria that are usually harmless to healthy people. People with this condition have an immune system that cannot properly respond to mycobacterial infections. As a result, they develop serious, life-threatening infections from mycobacteria that most people would easily fight off. They may also be more vulnerable to infections caused by Candida fungi and Salmonella bacteria. The condition typically becomes apparent in childhood when a child develops unusual or severe infections. Treatment focuses on long-term antibiotics and antifungal medicines to control infections. Hematopoietic stem cell transplantation (a bone marrow transplant) has been explored as a potentially curative option in some patients. Without treatment, infections can be severe and life-threatening. This disease belongs to a broader group of conditions called primary immunodeficiencies, where the immune system is weakened due to a genetic cause.
Also known as:
Key symptoms:
Repeated or severe infections with mycobacteria (including tuberculosis and environmental mycobacteria)Infections that do not respond well to standard antibiotic treatmentFungal infections, especially Candida (thrush) affecting the mouth, skin, or internal organsSalmonella infections causing prolonged or severe illnessSwollen lymph nodes, especially in the neck or abdomenPersistent feverWeight loss or poor weight gain in childrenFatigue and general feeling of being unwellLung infections or pneumoniaSkin infections or unusual skin sores
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
1 availableTrogarzo
TROGARZO, in combination with other antiretroviral(s), is indicated for the treatment of human immunodeficiency virus type 1 (HIV-1) infection in heavily treatment-experienced adults with multidrug re…
TROGARZO, in combination with other antiretroviral(s), is indicated for the treatment of human immunodeficiency virus type 1 (HIV-1) infection in heavily treatment-experienced adults with multidrug resistant HIV-1 infection failing their current antiretroviral regimen
Clinical Trials
View all trials with filters →No actively recruiting trials found for Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific mutations were found in the RORC gene, and what do they mean for my child's health?,What long-term antibiotics or antifungals does my child need, and for how long?,Is my child a candidate for a bone marrow transplant, and what are the risks and benefits?,Should other family members, including siblings, be tested for this condition?,Which vaccines are safe for my child, and which ones should be avoided?,What signs of infection should prompt an emergency visit, and which hospital should we go to?,Are there any clinical trials or research studies we should know about?
Common questions about Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
What is Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency?
Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency (sometimes called MSMD due to RORγ deficiency) is a very rare inherited immune system disorder. It is caused by mutations in the RORC gene, which provides instructions for making a protein called ROR-gamma (RORγ). This protein plays a critical role in helping the immune system fight off certain types of bacteria, particularly mycobacteria — a group that includes the bacteria responsible for tuberculosis and leprosy, as well as environmental (non-tuberculosis) mycobacteria that are usually harmless t
How is Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency inherited?
Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency typically begin?
Typical onset of Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency is childhood. Age of onset can vary across affected individuals.
What treatment and support options exist for Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency?
1 patient support program are currently tracked on UniteRare for Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency. See the treatments and support programs sections for copay assistance, eligibility, and contact details.