Prenatal test for X-linked severe combined immunodeficiency by analysis of maternal X-chromosome inactivation and linkage analysis

Article Abstract:

Severe combined immunodeficiency (SCID) is a disease caused by genetic defects of the X-linked or autosomal type; the result is defective immune function. Infants born with SCID suffer from serious infections, fail to grow and thrive, and commonly die at a young age. SCID that is inherited from an autosomal genetic defect (autosomal refers to chromosomes other than the sex chromosomes) can sometimes be traced to a specific cause, such as deficiency of a particular enzyme. These cases may eventually be treated with enzyme replacement, but so far they have been treated primarily with bone marrow transplantation. Autosomally inherited SCID is the less common type; in more than 80 percent of cases, the genetic basis cannot be identified. Since most patients are male, it appears that the defect may be linked to the X chromosome that determines sex when a Y chromosome is also inherited; this would mean that the defect is inherited from the mother. Yet mothers known to carry X-linked SCID have completely normal immune systems. Scientists are working to better understand the inheritance of SCID so that affected families can be given genetic counseling when planning a pregnancy. A case is described of a boy with SCID and no prior family history of immune dysfunction. Genetic studies were performed on his relatives at the time when his mother wanted to become pregnant again. The mutation was traced to the boy's grandfather, meaning that his mother carried it and passed it on to him. Neither the patient's mother nor his grandfather had any immune disease. Further studies of SCID and its genetic basis are continuing. (Consumer Summary produced by Reliance Medical Information, Inc.)

Research, Case studies, Genetic counseling, Immunodeficiency

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Mutations in the mu heavy-chain gene in patients with agammaglobulinemia

Article Abstract:

A mutation in the gene for the mu heavy chain of immunoglobulins may be responsible for certain types of agammaglobulinemia. This disorder is characterized by a deficiency in antibodies and is usually due to a mutation in an enzyme on the X chromosome. However, some patients with the disorder do not have this mutation. Researchers discovered 4 different mutations in the gene for the mu heavy chain on chromosome 14 in 2 families with agammaglobulinemia. This mutation would interfere with the processing of immunoglobulins on the surface of the B cell, which is the immune cell that produces antibodies.

Gene mutations, Gene mutation, Identification and classification, Immunoglobulins, Agammaglobulinemia

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Primary immunodeficiency diseases due to defects in lymphocytes

Article Abstract:

Defects in T cell function can cause infection, autoimmune diseases, and cancer. The molecular causes of defective T cell function are reviewed.

Causes of

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