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Clinical course of patients with major histocompatibility complex class II deficiency
M A Saleem1, P D Arkwright, E G Davies
1The Hospital for Sick Children, Great Ormond St, London, WC1N 3JH, UK.
Insights
Major histocompatibility complex (MHC) class II deficiency, also known as bare lymphocyte syndrome, has a poor prognosis in children. Overwhelming viral infections are the main cause of death, necessitating new treatment strategies.
Area of Science:
- Immunology
- Pediatric Hematology/Oncology
- Genetics
Background:
- Major histocompatibility complex (MHC) class II deficiency, or bare lymphocyte syndrome (BLS), is a rare primary immunodeficiency.
- It is characterized by a severe defect in cellular and humoral immunity, leading to recurrent infections.
Purpose of the Study:
- To describe the clinical course and outcomes of children diagnosed with MHC class II deficiency in the UK.
- To evaluate the effectiveness of current treatment strategies, including bone marrow transplantation.
Main Methods:
- Retrospective case series analysis of 10 children diagnosed with MHC class II deficiency over eight years.
- Review of clinical data, treatment interventions, and patient outcomes.
Main Results:
- The cohort of 10 children experienced a generally poor prognosis, with only two surviving at the time of reporting.
- Eight bone marrow transplantations were attempted in six patients, with limited success.
- Overwhelming viral infections were identified as the primary cause of mortality.
Conclusions:
- Current treatment approaches, including bone marrow transplantation, offer limited survival benefits for children with MHC class II deficiency.
- Novel therapeutic strategies and alternative transplant approaches are urgently needed to improve outcomes for these patients.
Abstract:
The clinical course of 10 children who have been diagnosed with major histocompatibility complex (MHC) class II deficiency (bare lymphocyte syndrome) in the UK over the past eight years is described. They have had a generally poor prognosis, with only two of the 10 still alive despite eight attempts at bone marrow transplantation in six patients. Overwhelming viral infection was the predominant cause of death. Alternative transplant strategies or novel therapies are required for these patients.