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Combined immunodeficiency with defective expression in MHC class II genes
C Griscelli1, B Lisowska-Grospierre, B Mach
1Immunologie et Rhumatologie Pédiatriques, INSERM U 132, Hôpital des Enfants-Malades, Paris, France.
Immunodeficiency Reviews
|January 1, 1989
Summary
MHC class II deficiency is a severe inherited immunodeficiency where cells fail to express HLA class II molecules, leading to recurrent infections. The defect stems from a transacting regulatory factor, RF-X, affecting HLA class II gene transcription.
Area of Science:
- Immunology
- Genetics
Background:
- MHC class II deficiency is an inherited immunodeficiency.
- It's characterized by absent HLA class II expression on various cells, impacting immune responses.
- Patients experience severe, recurrent infections due to compromised cellular and humoral immunity.
Purpose of the Study:
- To investigate the molecular basis of MHC class II deficiency.
- To understand the role of HLA class II molecules in immune defense.
Main Methods:
- Analysis of HLA class II gene and mRNA expression.
- Segregation studies in affected families.
- Direct transcription assays and nuclear protein binding analysis.
Main Results:
- No gross abnormalities in MHC class II genes or mRNA detected.
- Absence of HLA class II gene transcription observed.
- A specific transacting regulatory factor, RF-X, found to be affected.
Conclusions:
- MHC class II deficiency results from a defect in a transacting regulatory factor (RF-X).
- This defect leads to absent HLA class II gene transcription and severe immunodeficiency.
- Confirms the critical role of MHC gene products in immune defense mechanisms.