Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells

Article Abstract:

A case is reported of a boy with X-linked severe combined immunodeficiency whose gene mutation spontaneously reverted to normal. This disease is caused by a gene mutation on the X chromosome that interferes with the development of T cells and B cells. He developed pneumonia at 6 months of age and was diagnosed with X-linked severe combined immunodeficiency at the age of 1 year. The diagnosis was made because his B cells contained the gene mutation. However, his T cells contained the normal gene, indicating that the mutation had reverted to normal during the early stages of T cell formation.

Case studies, Immunological deficiency syndromes, Immunologic deficiency syndromes

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Inherited and somatic CD3(sym) mutations in a patient with T-cell deficiency

Article Abstract:

A case study of a four-month-old child with greatly increased susceptibility to bacterial, viral, and fungal infections and a new type of T-cell immunodeficiency that is caused by homozygous mutation of CD3zeta is presented. This subunit of the T-cell receptor-CD3 complex is essential for the expression of the complex and its signaling function.

United States, Science & research, Care and treatment, Research, T cells, Mycoses

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Have we seen the last variant of severe combined immunodeficiency?

Article Abstract:

A report published in 2003 documents a new form of severe combined immunodeficiency (SCID). In patients with this form of SCID, a mutation in the gene for one of the T cell receptor subunits causes a complete lack of mature T cells. The mutation affects the CD3delta subunit.

Causes of, Severe combined immunodeficiency

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