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(D81.0) Severe combined immunodeficiency [scid] with reticular dysgenesis
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37 763 in individuals diagnosis severe combined immunodeficiency [scid] with reticular dysgenesis confirmed
2 729 deaths with diagnosis severe combined immunodeficiency [scid] with reticular dysgenesis
7% mortality rate associated with the disease severe combined immunodeficiency [scid] with reticular dysgenesis
Diagnosis severe combined immunodeficiency [scid] with reticular dysgenesis is diagnosed Men are 25.48% more likely than Women
23 693
Men receive the diagnosis severe combined immunodeficiency [scid] with reticular dysgenesis
926 (3.9 %)Died from this diagnosis.
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14 070
Women receive the diagnosis severe combined immunodeficiency [scid] with reticular dysgenesis
1 803 (12.8 %)Died from this diagnosis.
Risk Group for the Disease severe combined immunodeficiency [scid] with reticular dysgenesis - Men aged 20-24 and Women aged 0-5
In Men diagnosis is most often set at age 0-14, 20-89
Less common in men the disease occurs at Age 15-19, 90-95+Less common in women the disease occurs at Age 55-59, 90-95+
In Women diagnosis is most often set at age 0-54, 60-89
Disease Features severe combined immunodeficiency [scid] with reticular dysgenesis
Absence or low individual and public risk
Severe combined immunodeficiency [scid] with reticular dysgenesis - what does this mean
Severe combined immunodeficiency with reticular dysgenesis is a rare genetic disorder caused by a mutation in the rmrp gene, resulting in a lack of functional t and b cells. this leads to a severe immunodeficiency, leaving the patient highly susceptible to infection. additionally, the mutation can cause physical abnormalities such as reticular dysgenesis, which is characterized by skin and skeletal malformations.
What happens during the disease - severe combined immunodeficiency [scid] with reticular dysgenesis
Reticular dysgenesis is a rare genetic disorder that affects the development of the immune system. it is caused by a mutation in the rmrp gene, which is responsible for the production of ribonucleic acid (rna). this mutation impairs the production of the enzyme, adenosine deaminase (ada), which is necessary for the development of t-cells and b-cells, resulting in severe combined immunodeficiency (scid). patients with scid are highly susceptible to infections, as the body is unable to mount an effective immune response.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete Blood Count (CBC) to assess the count of white blood cells, red blood cells, and platelets
- Lymphocyte subset analysis to evaluate the proportion of T-cells, B-cells, and NK-cells
- Flow cytometry to assess the function of T-cells, B-cells, and NK-cells
- T-cell receptor excision circle (TREC) analysis to measure the number of T-cells produced in the thymus
- Quantitative PCR to detect the presence of the RAG1 and RAG2 genes
- Genetic testing to identify mutations in the RAG1 and RAG2 genes
- Molecular analysis to detect mutations in the ADA, IL2RG, and JAK3 genes
- X-ray imaging to detect reticular dysgenesis
Treatment and Medical Assistance
Main Goal: To restore a functional immune system in patients with SCID and reticular dysgenesis
- Administering a bone marrow transplant
- Administering a cord blood transplant
- Administering gene therapy
- Administering immunoglobulin therapy
- Administering enzyme replacement therapy
- Administering antibiotics and antiviral medications
- Providing nutritional support
- Providing physical and occupational therapy
19 Days of Hospitalization Required
48 Hours Required for Outpatient Treatment
Severe combined immunodeficiency [scid] with reticular dysgenesis - Prevention
The prevention of severe combined immunodeficiency (scid) with reticular dysgenesis can be achieved by pre-implantation genetic diagnosis (pgd). this is a form of genetic testing that is done on embryos prior to implantation, allowing parents to identify embryos that are affected by scid and reticular dysgenesis. this can help to reduce the risk of passing on the condition to their children. additionally, newborn screening for scid is recommended to identify affected infants early and begin treatment as soon as possible.