Brief report: twin boys with major histocompatibility complex class II deficiency but inducible immune responses
Article Abstract:
A rare immunodeficiency condition known as major histocompatibility complex (MHC) class II deficiency may allow the body to produce an immune response in some situations. The case of twin boys with MHC class II deficiency is presented. One of the boys experienced several illnesses as an infant, but both boys were able to produce specific antibodies and to develop T-cell reactions after tetanus vaccination. Most patients with MHC class II deficiency have a total lack of T-cell responses to produce antigens, cannot adequately produce specific antibodies, and have decreased CD4 T cells in peripheral blood. The two infants may have had low quantities of MHC class II antigens, but enough to produce normal numbers of CD4 T cells. It is suggested that the twins do not have enough MHC class II molecules to be detected by flow cytometry but may still be present on the surface of the infants' T-cells. The ability of the infants' MHC class II genes to copy themselves apparently did not have a regulatory defect, and this enabled them to develop immune responses.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1995
User Contributions:
Comment about this article or add new information about this topic:
MHC class II regulation - lessons from a disease
Article Abstract:
A form of immunodeficiency known as major histocompatibility complex (MHC) class II deficiency may be caused by defects in the ability of a gene to regulate its expression. This finding may lead to identification of the essential regulators of MHC class II gene expression, which may expand understanding of the immune response. MHC class II deficiency, also known as the bare lymphocyte syndrome, is a rare autosomal recessive disease resulting in severe immunodeficiency. The defect that produces the MHC class II deficiency may not reside in the gene but in the regulatory proteins that are necessary for gene expression. The identification of these regulatory proteins may enable gene therapy to be conducted in patients with the disease. The mechanism of regulation of the MHC class II gene may be mediated by a transactivator known as CIITA. Immunomodulation strategies may target CIITA and RFX, another transcription factor, to study subsequent changes in gene regulation and expression.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1995
User Contributions:
Comment about this article or add new information about this topic:
Mutation of RFXAP, a regulator of the MHC class II genes, in primary MHC class II deficiency
Article Abstract:
A newly identified mutation has been linked to major histocompatibility complex (MHC) class II deficiency. This is an immunodeficiency disease characterized by a lack of MHC class II molecules, which are involved in the immune response. It is not caused by mutations in the MHC genes themselves, but in the genes of proteins that regulate them. Genetic analysis performed in three unrelated families revealed a mutation in the RFXAP gene, which is a regulatory gene. When the normal RFXAP gene was introduced into tissue samples from these families, MHC class II molecules were expressed in the cells.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1997
User Contributions:
Comment about this article or add new information about this topic:
- Abstracts: The experience of living with faecal incontinence. Simple precautions by all will prevent infection
- Abstracts: Tooth sensitivity related to class I and II resin restorations
- Abstracts: Adelaide healthy food basket: a survey on food cost, availability and affordability in five local government areas in metropolitan Adelaide, South Australia
- Abstracts: On the road to prevention. Health agencies pursue partnerships with 'bottom-line' medicine. Ministry of health: across the nation, religious institutions are pitching in to deliver the gospel on health promotion and disease prevention
- Abstracts: Joint commission flap obscures its quality mission. Leadership for medicine's future. County, state medical societies shouldn't be forgotten