
Living with Immunodeficiency due to CD25 deficiency
A rare inherited immune condition with severe infections and autoimmune problems starting in infancy.
Understanding Immunodeficiency due to CD25 deficiency
People are very prone to viral, fungal, and bacterial infections because of weak T regulatory cell function. Autoimmune disease can include total hair loss, red skin (erythroderma), thyroid inflammation, and bowel problems. It begins in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Total loss of hair (alopecia universalis)
- Skin infections (cellulitis)
- Long-lasting diarrhea
- Long-lasting mouth thrush (candida)
- Eczema
- Low regulatory T cell proportion
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in IL2RA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the IL2RA gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cd25 deficiency; il2ra deficiency; immunodeficiency 41 with lymphoproliferation and autoimmunity; interleukin 2 receptor alpha chain deficiency; interleukin-2 receptor alpha chain deficiency
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Immunodeficiency due to CD25 deficiency.
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