Severe combined immunodeficiency
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
Severe combined immunodeficiency(SCID) is a rare, life-threatening immunological disorder characterized due to the lack of B-lymphocyte and T-lymphocyte functioning. Sporadic (occasional) malfunctioning of natural killer (NK) cells can also result this condition.
There are at least fourteen different types of SCID that have been recognized, with most inherited in a recessive manner. The following two most frequent forms of SCID are:
- X-Linked SCID (XSCID): based on mutations in the IL2RG gene, located on the X chromosome
- Adenosine Deaminase (ADA) Deficiency SCID: due to mutations in the adenosine deaminase ADA gene
Other forms of SCID include:
- Alpha Chain of the IL-7 Receptor deficiency SCID
- Janus Kinase 3 deficiency SCID
- CD3 Chains deficiency SCID
- Three other forms of SCID results due to genetic mutations leading to deficiency of CD3δ, ε or ζ protein chains.
- CD45 deficiency SCID
- Recombinase activating genes 1 and 2 (RAG1 and RAG2) deficiency –also known as Omenn’s Syndrome
- Artemis deficiency
- Cernunnos deficiency
- Ligase 4 deficiency
