Overview
Combined immunodeficiency due to Moesin deficiency is a very rare inherited disease that weakens the immune system. It is caused by changes (mutations) in the MSN gene, which provides instructions for making a protein called Moesin. Moesin plays an important role in helping immune cells — especially a type called T cells — move around the body and work properly. When Moesin is missing or does not work correctly, the immune system cannot fight off infections the way it should. People with this condition tend to get frequent, serious, or unusual infections starting in early childhood. The immune system may have very low numbers of certain white blood cells, making it hard to defend against bacteria, viruses, and fungi. This condition is sometimes referred to as Moesin-deficient combined immunodeficiency or MSN-related immunodeficiency. Treatment focuses on preventing and managing infections, often using antibiotics and antifungal medicines on a regular basis. Immunoglobulin replacement therapy (giving the body antibodies it cannot make on its own) is also commonly used. In some cases, a stem cell transplant may be considered as a more permanent treatment option. Early diagnosis is very important so that protective treatments can begin as soon as possible.
Also known as:
Key symptoms:
Frequent or severe infections (bacterial, viral, or fungal)Low numbers of T cells (a type of immune cell) in the bloodSwollen lymph nodesFailure to thrive or poor weight gain in infancyChronic diarrheaSkin infections or rashesLung infections such as pneumoniaMouth sores or oral thrush (fungal infection in the mouth)Fever that keeps coming backEnlarged spleen or liver
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
FDA & Trial Timeline
1 eventInstitut National de la Santé Et de la Recherche Médicale, France
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Combined immunodeficiency due to Moesin deficiency.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 Combined immunodeficiency due to Moesin deficiency.
Community
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Start the conversation →Latest news about Combined immunodeficiency due to Moesin deficiency
Disease timeline:
New recruiting trial: X-linked Moesin Associated Immunodeficiency
A new clinical trial is recruiting patients for Combined immunodeficiency due to Moesin deficiency
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 immune cells are affected in my child, and how low are their levels?,Is my child a candidate for a stem cell transplant, and what would that process involve?,What infections should I watch for most closely, and when should I go to the emergency room?,Which vaccines are safe for my child, and should other family members get vaccinated to protect them?,How often will my child need immunoglobulin infusions, and can these be done at home?,Are there any clinical trials or new treatments we should consider?,Should other family members be tested for the MSN gene mutation?
Common questions about Combined immunodeficiency due to Moesin deficiency
What is Combined immunodeficiency due to Moesin deficiency?
Combined immunodeficiency due to Moesin deficiency is a very rare inherited disease that weakens the immune system. It is caused by changes (mutations) in the MSN gene, which provides instructions for making a protein called Moesin. Moesin plays an important role in helping immune cells — especially a type called T cells — move around the body and work properly. When Moesin is missing or does not work correctly, the immune system cannot fight off infections the way it should. People with this condition tend to get frequent, serious, or unusual infections starting in early childhood. The immun
How is Combined immunodeficiency due to Moesin deficiency inherited?
Combined immunodeficiency due to Moesin deficiency follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Combined immunodeficiency due to Moesin deficiency typically begin?
Typical onset of Combined immunodeficiency due to Moesin deficiency is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Combined immunodeficiency due to Moesin deficiency?
Yes — 1 recruiting clinical trial is currently listed for Combined immunodeficiency due to Moesin deficiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Combined immunodeficiency due to Moesin deficiency?
1 specialists and care centers treating Combined immunodeficiency due to Moesin deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.