Combined immunodeficiency with skin granulomas
Other Names: CID due to RAG 1/2 deficiency; Combined immunodeficiency due to RAG 1/2 deficiency; Combined immunodeficiency with granulomatosis; Combined cellular and humoral immune defects with granulomas
Combined immunodeficiency with skin granulomas is characterized by recurrent viral infections and the presence of granulomas in the skin, mucous membranes and/or internal organs.
There is a gradual reduction in the number and function of B cells (a type of white blood cell that makes antibodies), and T lymphocytes (a type of white blood cell, that protect the body from infection attacking the infected cells directly), hypogammaglobulinemia (reduction in all types of gamma globulins, including antibodies that help fight infection.) and defective autoimmunity where the immune system attacks the body itself. Some people may develop associated auto-immune diseases such as myasthenia gravis, vitiligo, low blood red and white cells, psoriasis, and Guillain–Barré syndrome.
Cause[edit | edit source]
It is caused by mutations in the RAG1 and/or RAG2 genes. These genes provide instructions for making a member of a group of proteins called the RAG complex, which is involved in the process, known as V(D)J recombination, needed for maintaining the diversity of the B and T cells so they can be able to recognize diverse foreign agents allowing the body to fight infections. The mutations can impair RAG complex formation and function, resulting in an impaired B and T cells' function. Depending on the residual activity of the RAG proteins the disease can be more or less severe. In less severe cases symptoms are milder and may appear later in life.
Treatment[edit | edit source]
Treatment is with bone marrow transplantation.
NIH genetic and rare disease info[edit source]
Combined immunodeficiency with skin granulomas is a rare disease.
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