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Major histocompatibility complex class II deficiency: a clinical review
1Department of Pediatrics and Pediatric Hematology, Rambam Medical Center, Haifa, Israel.
Blood Reviews
|December 1, 1996
Summary
Major histocompatibility complex Class II deficiency, a rare immunodeficiency, impairs immune responses and increases infection susceptibility. Bone-marrow transplantation offers the only cure for this genetic disorder.
Area of Science:
- Immunology
- Genetics
Background:
- Major histocompatibility complex (MHC) Class II deficiency, also known as bare lymphocyte syndrome, is a rare primary immunodeficiency.
- It accounts for 5% of severe combined immunodeficiency cases, characterized by absent MHC Class II gene expression.
- This leads to impaired T-cell responses and antibody production, causing severe susceptibility to infections.
Purpose of the Study:
- To describe the characteristics of Major histocompatibility complex Class II deficiency.
- To outline the genetic basis and identified regulatory genes.
- To discuss current treatment options.
Main Methods:
- Literature review of Major histocompatibility complex Class II deficiency.
- Somatic cell genetics and cell fusion experiments to identify complementation groups.
- Genetic analysis to identify regulatory genes.
Main Results:
- Identified four complementation groups in Major histocompatibility complex Class II deficiency patients.
- Discovered two key regulatory genes: Class II transactivator and regulatory factor X5.
- Observed reduced human leucocyte antigen Class I expression in some patients.
Conclusions:
- Major histocompatibility complex Class II deficiency is an autosomal recessive disorder primarily affecting individuals of Mediterranean descent.
- Impaired gene regulation involving trans-acting proteins causes the disease.
- Supportive care includes intravenous gammaglobulin and infection prophylaxis; bone-marrow transplantation is curative.