T+ B+ severe combined immunodeficiency

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ORPHA:397802
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5Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

T+ B+ severe combined immunodeficiency (SCID) is a rare and life-threatening immune system disorder that is present from birth. In this form of SCID, both T cells and B cells are present in the blood (hence 'T+ B+'), but they do not work properly. T cells and B cells are white blood cells that normally protect the body from infections. Because these cells are not functioning correctly, babies with this condition cannot fight off infections the way healthy children can. Infants with T+ B+ SCID typically become very sick in the first months of life with repeated, severe infections. These can include pneumonia, chronic diarrhea, skin infections, and infections caused by organisms that would not normally make a healthy person sick (called opportunistic infections). Without treatment, this condition is usually fatal in early childhood. The treatment landscape for T+ B+ SCID includes hematopoietic stem cell transplantation (bone marrow transplant), which is the primary curative treatment. Early diagnosis through newborn screening programs has significantly improved outcomes, as transplant is most successful when performed before severe infections develop. Supportive care includes infection prevention, immunoglobulin replacement therapy, and prophylactic antibiotics and antifungals. Gene therapy is an emerging treatment option for certain genetic subtypes. The prognosis has improved dramatically with early detection and advances in transplant techniques.

Key symptoms:

Frequent and severe infections starting in infancyChronic diarrheaFailure to gain weight or grow normally (failure to thrive)Persistent oral thrush (yeast infection in the mouth)Recurring pneumonia or lung infectionsSkin rashes or infectionsInfections that do not respond to standard antibioticsInfections caused by unusual organisms (opportunistic infections)Chronic coughEnlarged liver or spleenDelayed development due to chronic illnessFever that keeps coming back

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for T+ B+ severe combined immunodeficiency.

View clinical trials →

No actively recruiting trials found for T+ B+ severe combined immunodeficiency at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the T+ B+ severe combined immunodeficiency community →

Specialists

5 foundView all specialists →
SM
Suk S De Ravin, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 6 active trials
AM
Amrita Y. Krishnan, MD
DUARTE, CA
Specialist
PI on 4 active trials1 T+ B+ severe combined immunodeficiency publication
LB
Lauri Burroughs
Seattle, Washington
Specialist

Rare Disease Specialist

PI on 3 active trials
AW
Ann Woolfrey
SEATTLE, WA
Specialist
PI on 5 active trials

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to T+ B+ severe combined immunodeficiency.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about T+ B+ severe combined immunodeficiency

No recent news articles for T+ B+ severe combined immunodeficiency.

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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 genetic cause has been identified for my child's SCID, and how does that affect treatment options?,Is bone marrow transplant recommended, and what type of donor would be best?,What are the risks and expected outcomes of transplant for my child's specific subtype?,Are there any clinical trials or gene therapy options available for my child?,What infection prevention measures should we follow at home before and after treatment?,How will my child's immune function be monitored long-term after transplant?,Should other family members be tested for this genetic condition?

Common questions about T+ B+ severe combined immunodeficiency

What is T+ B+ severe combined immunodeficiency?

T+ B+ severe combined immunodeficiency (SCID) is a rare and life-threatening immune system disorder that is present from birth. In this form of SCID, both T cells and B cells are present in the blood (hence 'T+ B+'), but they do not work properly. T cells and B cells are white blood cells that normally protect the body from infections. Because these cells are not functioning correctly, babies with this condition cannot fight off infections the way healthy children can. Infants with T+ B+ SCID typically become very sick in the first months of life with repeated, severe infections. These can in

At what age does T+ B+ severe combined immunodeficiency typically begin?

Typical onset of T+ B+ severe combined immunodeficiency is neonatal. Age of onset can vary across affected individuals.

Which specialists treat T+ B+ severe combined immunodeficiency?

5 specialists and care centers treating T+ B+ severe combined immunodeficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.