T-cell immunodeficiency with epidermodysplasia verruciformis

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:324294OMIM:618307D84.8
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

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

Overview

T-cell immunodeficiency with epidermodysplasia verruciformis is a rare inherited condition that affects the immune system, specifically the T-cells, which are white blood cells that help your body fight infections. Because of this immune system weakness, people with this condition are unusually vulnerable to certain types of human papillomavirus (HPV) infections. These HPV infections cause a skin condition called epidermodysplasia verruciformis (EV), which leads to widespread, flat, wart-like skin lesions and scaly patches that can appear across the body, especially on the hands, feet, face, and trunk. The skin lesions in this condition are not just a cosmetic concern. Over time, some of these HPV-related skin growths can transform into skin cancers, particularly squamous cell carcinoma, especially in areas exposed to sunlight. The underlying T-cell deficiency may also make affected individuals more susceptible to other infections beyond HPV. Treatment is challenging because there is no cure for the underlying immune deficiency. Management focuses on monitoring and treating skin lesions, preventing skin cancer through sun protection, surgically removing precancerous or cancerous growths, and sometimes using antiviral or immune-modulating therapies. Some patients may benefit from treatments that boost immune function. The condition requires lifelong monitoring by both immunology and dermatology specialists.

Also known as:

Key symptoms:

Widespread flat warts on the skinScaly, reddish-brown patches on the skinWart-like growths on the hands, feet, face, and trunkFrequent or severe skin infectionsSkin cancers, especially squamous cell carcinomaIncreased susceptibility to infectionsLow T-cell counts or poorly functioning T-cellsSkin lesions that worsen with sun exposureRecurrent viral infectionsSlow wound healing

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for T-cell immunodeficiency with epidermodysplasia verruciformis.

View clinical trials →

No actively recruiting trials found for T-cell immunodeficiency with epidermodysplasia verruciformis at this time.

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

Search ClinicalTrials.gov ↗Join the T-cell immunodeficiency with epidermodysplasia verruciformis community →

No specialists are currently listed for T-cell immunodeficiency with epidermodysplasia verruciformis.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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-cell immunodeficiency with epidermodysplasia verruciformis.

Search all travel grants →NORD Financial Assistance ↗

Community

Open T-cell immunodeficiency with epidermodysplasia verruciformisForum →

No community posts yet. Be the first to share your experience with T-cell immunodeficiency with epidermodysplasia verruciformis.

Start the conversation →

Latest news about T-cell immunodeficiency with epidermodysplasia verruciformis

No recent news articles for T-cell immunodeficiency with epidermodysplasia verruciformis.

Follow this condition to be notified when news becomes available.

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 type of T-cell deficiency does my child have, and which gene is affected?,How often should we have skin examinations to check for precancerous changes?,Is hematopoietic stem cell transplantation an option for our case?,What sun protection measures are most important, and are there specific products you recommend?,Are there any clinical trials or new treatments being studied for this condition?,What signs of infection should prompt us to seek emergency care?,Should other family members be tested for this genetic condition?

Common questions about T-cell immunodeficiency with epidermodysplasia verruciformis

What is T-cell immunodeficiency with epidermodysplasia verruciformis?

T-cell immunodeficiency with epidermodysplasia verruciformis is a rare inherited condition that affects the immune system, specifically the T-cells, which are white blood cells that help your body fight infections. Because of this immune system weakness, people with this condition are unusually vulnerable to certain types of human papillomavirus (HPV) infections. These HPV infections cause a skin condition called epidermodysplasia verruciformis (EV), which leads to widespread, flat, wart-like skin lesions and scaly patches that can appear across the body, especially on the hands, feet, face, a

How is T-cell immunodeficiency with epidermodysplasia verruciformis inherited?

T-cell immunodeficiency with epidermodysplasia verruciformis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does T-cell immunodeficiency with epidermodysplasia verruciformis typically begin?

Typical onset of T-cell immunodeficiency with epidermodysplasia verruciformis is childhood. Age of onset can vary across affected individuals.