Living with MHC class I deficiency
An inherited immune condition causing repeated lung and airway infections and skin sores, starting in childhood.
Understanding MHC class I deficiency
The immune system cannot protect the body well against bacteria and viruses. From childhood, most people have repeated bacterial infections of the lungs and airways. These can lead to bronchiectasis, which damages the airways. Many also have skin ulcers, usually on the face, arms, and legs, developing in adolescence or young adulthood. Some have no symptoms.
Signs & symptoms
GARD doesn't list a separate symptom list, but its summary describes these:
- Repeated bacterial lung and airway infections
- Airway damage (bronchiectasis)
- Skin sores (ulcers) on the face, arms, and legs
- No symptoms in some people
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); 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
People have too few specialized immune proteins called MHC class I proteins on their cells. Changes in genes (also called variants) cause this. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: bare lymphocyte syndrome type 1; bare lymphocyte syndrome type i; bls, type i; blsi; hla class i deficiency; immunodeficiency by defective expression of hla (human leukocyte antigen) class 1
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 MHC class I deficiency.
Explore research for MHC class I deficiency
Explore actively recruiting MHC class I deficiency studies with HealthSpark.
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- 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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