Overview
X-linked Mendelian Susceptibility to Mycobacterial Diseases (MSMD) due to IKBKG deficiency is a rare inherited immune system disorder that makes affected individuals highly vulnerable to infections caused by mycobacteria. Mycobacteria are a group of germs that include the bacteria responsible for tuberculosis (TB) and other normally weak (low-virulence) organisms like BCG vaccine strains and environmental mycobacteria. In healthy people, the immune system can usually fight off these germs easily, but in people with this condition, the immune system cannot mount an effective defense. This condition is caused by mutations in the IKBKG gene (also known as NEMO), which is located on the X chromosome. The IKBKG/NEMO protein plays a critical role in a signaling pathway called NF-kB, which is essential for activating immune cells to fight infections. When this protein does not work properly, the body's ability to produce certain protective immune signals, particularly interferon-gamma, is impaired. Because the gene is on the X chromosome, this condition primarily affects boys and men. Note that this Orphanet entry is marked as 'OBSOLETE,' meaning it may have been reclassified or merged into a broader category of MSMD or NEMO deficiency syndromes. Patients and families should discuss the most current classification with their geneticist. Symptoms typically appear in early childhood and include severe or recurrent mycobacterial infections, which can affect the lungs, lymph nodes, bones, and skin. Treatment focuses on aggressive antibiotic therapy for infections and may include interferon-gamma supplementation. In severe cases, bone marrow transplantation may be considered. Early diagnosis and ongoing immune monitoring are essential for improving outcomes.
Also known as:
Key symptoms:
Severe or recurrent infections caused by mycobacteria (including BCG vaccine reactions)Swollen lymph nodesPersistent feversLung infections or pneumoniaBone infections (osteomyelitis)Skin infections or abscessesPoor weight gain or failure to thriveChronic diarrheaFatigue and general weaknessInfections that do not respond well to standard antibioticsSusceptibility to other unusual infections (fungal, viral)Abnormal skin findings such as a condition called ectodermal dysplasia in some NEMO-related cases
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency.
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Specialists
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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 OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 mutation was found in the IKBKG gene, and what does it mean for my child's immune function?,Should my child receive interferon-gamma therapy, and what are the benefits and risks?,Is bone marrow transplantation an option for my child, and when would it be considered?,Which vaccines are safe and which should be avoided?,What signs of infection should prompt an emergency room visit?,Are other family members at risk, and should they be tested?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
What is OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency?
X-linked Mendelian Susceptibility to Mycobacterial Diseases (MSMD) due to IKBKG deficiency is a rare inherited immune system disorder that makes affected individuals highly vulnerable to infections caused by mycobacteria. Mycobacteria are a group of germs that include the bacteria responsible for tuberculosis (TB) and other normally weak (low-virulence) organisms like BCG vaccine strains and environmental mycobacteria. In healthy people, the immune system can usually fight off these germs easily, but in people with this condition, the immune system cannot mount an effective defense. This cond
How is OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency inherited?
OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency typically begin?
Typical onset of OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency is infantile. Age of onset can vary across affected individuals.