Immunodeficiency 26
From Wikipedia, the free encyclopedia
| Immunodeficiency 26 | |
|---|---|
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| Immunodeficiency 26 is inherited in an autosomal recessive pattern. | |
| Specialty | Medical genetics |
Immunodeficiency 26 is a rare genetic syndrome. It is characterised by absent circulating B and T cells and normal natural killer cells.
The features of this condition include recurrent candidiasis and lower respiratory tract infections.[1]
Genetics
This condition is due to mutations in the DNA-PKcs gene and is inheritable in an autosomal recessive fashion. The gene is located on the long arm of chromosome 8 (8q11.21) on the minus strand. It encodes a protein of 4128 amino acids with a predicted molecular weight of 469 kilodaltons. The encoded protein is a protein kinase that is activated by DNA. This protein acts as a sensor for damaged DNA.[citation needed]
Diagnosis
Diagnosis is made by examination of the circulating lymphocytes and gene sequencing.[citation needed]