What is RAG deficiency?

What is RAG deficiency?

Disease definition. Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity.

How do you treat RAG deficiency?

Hematopoietic stem cell transplantation is the only curative treatment available for RAG deficiencies up to date ( Table 1 ).

What do RAG genes do?

The RAG1 gene provides instructions for making a member of a group of proteins called the RAG complex. This complex is active in immune system cells (lymphocytes) called B cells and T cells. These cells have special proteins on their surface that recognize foreign invaders and help protect the body from infection.

What is the difference between RAG 1 and RAG 2?

Unlike the binding of RAG1 plus RAG2, RAG1 can bind to DNA in the absence of a divalent metal ion and does not require the presence of coding flank sequence. Footprinting of the RAG1-RAG2 complex with 1,10-phenanthroline-copper and dimethyl sulfate protection reveal that both the heptamer and the nonamer are involved.

What is RAG in immunology?

The recombination-activating genes (RAGs) encode parts of a protein complex that plays important roles in the rearrangement and recombination of the genes encoding immunoglobulin and T cell receptor molecules.

What is trec immunology?

T-cell receptor excision circles (TRECs) are small circles of DNA created in T-cells during their passage through the thymus as they rearrange their TCR genes. Their presence indicates maturation of T cells; TRECs are reduced in SCID (Severe combined immunodeficiency disease).

Where is RAG1 found?

RAG1 and RAG2 are, respectively, located at chromosome positions 11p12 and 11p13 and encode for the RAG1 and RAG2 proteins. RAG proteins are lymphoid-specific components of the complex of enzymes initiating the V(D)J recombination process (Fugmann et al., 2000).

What is Artemis deficiency?

Artemis deficiency is a rare form of autosomal recessive radiosensitive SCID that results in a T-B-NK+ phenotype. It is caused by mutations in the DCLRE1C gene.

How is SCID caused?

The best-known form of autosomal recessive SCID is caused by adenosine deaminase (ADA) deficiency, in which infants lack the ADA enzyme necessary for T-cell survival. X-linked SCID, which is caused by mutations in a gene on the X chromosome, primarily affects male infants.

What is the pathophysiology of RAG2 deficiency?

RAG1 or RAG2 deficiency causes a form of autosomal recessive T-B-NK+ SCID. It accounts for approximately 4% of all SCID cases. 2. The enormous diversity of specific immunoglobulins/B cell receptors and T cell receptors is generated through a process of V (D)J recombination.

What does the RAG1 gene do?

The RAG1 gene provides instructions for making a member of a group of proteins called the RAG complex. This complex is active in immune system cells (lymphocytes) called B cells and T cells.

What is Rag1 deletion?

Defects in this gene can cause several different diseases. Because of these effects, Rag1 deletion is used in mouse models of disease to impair T cell and B cell development, and functionally deletes mature T and B cells from the immune system. In humans, RAG deficiency was first recognised as a form of immune dysregulation known as Omenn syndrome.

Where can I find information on severe combined immunodeficiency due to RAG1/2 deficiency?

MedlinePlus Genetics contains information on Severe combined immunodeficiency due to complete RAG1/2 deficiency. This website is maintained by the National Library of Medicine. The National Human Genome Research Institute’s (NHGRI) website has an information page on this topic.