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Living with MHC class II deficiency

A rare inherited immune condition causing severe, repeated infections that start early in life.

Understanding MHC class II deficiency

MHC class II deficiency is a rare inherited immune disorder in which immune cells lack HLA class II molecules.

This severely weakens the body's immune response. It leads to early, severe, repeated infections, mainly of the breathing and digestive tracts, long-lasting diarrhea with poor growth, and autoimmune disease. It starts in newborns and infants.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Repeated bacterial, viral, and fungal infections
  • Long-lasting diarrhea
  • Poor weight gain
  • Repeated respiratory infections
  • Repeated candida (yeast) infections
  • Liver and bile duct inflammation

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. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  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 Jeffrey Modell Foundation and other patient organizations
  • 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
Which gene is involved, and can we have genetic testing?
What treatments for immune function are available?
How can infections be prevented?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Recessive

Changes in genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.

GeneticGastrointestinal

Also known as: bare lymphocyte syndrome; bare lymphocyte syndrome 2; bare lymphocyte syndrome type 2; bare lymphocyte syndrome, type ii, complementation group a; bls 2; bls, type ii

Patient organizations

Source: NIH GARD · MHC class II deficiencyGARD ID 824 · 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 MHC class II deficiency.

Explore the MHC class II deficiency blog

Explore research for MHC class II deficiency

Explore actively recruiting MHC class II deficiency studies with HealthSpark.

HealthSpark

Find actively recruiting studies for MHC class II deficiency with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
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  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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