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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

Immunodeficiency due to CD25 deficiency is a rare genetic immune disorder with severe, wide-ranging infections and autoimmune disease.

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

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include allergy and immune system specialists, digestive system specialists and genetic specialists.

  3. Consider 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.

  4. Connect 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
Bring these questions to your next doctor visit
Can genetic testing for the IL2RA gene confirm the diagnosis?
How do we protect my child from infections?
Which specialists should manage the autoimmune problems?

Quick facts

Symptoms usually startInfant
InheritanceAutosomal Recessive
GenesIL2RA

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.

GeneticGastrointestinal

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

Broader rare-disease groups

Source: NIH GARD · Immunodeficiency due to CD25 deficiencyGARD ID 17049 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Immunodeficiency due to CD25 deficiency.

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