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This is the third most common form of SCID with 11% of the incidence. Other forms and the causes of SCID are mentioned below: Alpha Chain of the IL-7 Receptor deficiency SCID The immune system of the patient becomes severely compromised and is often lethal in absence of prompt treatment.

These chemicals start showing toxic manifestations to the extent of killing the immature lymphocytes. The mutations in this gene result in an incomplete enzymatic reaction, causing accumulation of the transient substrates and metabolites inside the cells. Formation of ADA is governed by a gene located on Chromosome 20. Also, there may be various other genetic factors involved.ĪDA is a vital component for the production of new DNA, development of lymphocytes, and disposal of toxic metabolites from the body. ADA deficiency SCID is often considered to be the consequence of spontaneous mutations. Adenosine Deaminase (ADA) Deficiency SCIDĪs evident from the name, this type of SCID is caused due to the deficiency of ADA enzyme. Hence, XSCID majorly affects males due to the absence of any proxy defense machinery. In females, the spare X-chromosome with normally functioning IL2RG and JAK3 pathways play a crucial role in combating the effects of faulty chromosome. However, because of the same fact, they become less prone to the manifestations of this disease. Mutations in JAK3 also contribute to defective IL receptors.Īs a result of these mutations, T-lymphocytes which play a major role in foreign body location and maintaining the natural defense mechanism of the body remain underdeveloped.Īs the root cause of this disease lies on X-chromosome, females are natural carriers of these mutations because of the existence of two X-chromosomes. IL2RG also activates an important signaling molecule, JAK3 on Chromosome 19.