X-linked SCID
X-linked Severe Combined Immunodeficiency (X-linked SCID)[edit | edit source]
X-linked Severe Combined Immunodeficiency (X-linked SCID) is a rare genetic disorder characterized by a severe defect in the immune system, leading to increased susceptibility to infections. It is one of the most well-known forms of Severe Combined Immunodeficiency (SCID).
Overview[edit | edit source]
X-linked SCID is caused by mutations in the IL2RG gene, which encodes the common gamma chain (_c) of several interleukin receptors. This chain is crucial for the development and function of T cells, B cells, and natural killer (NK) cells. The absence or dysfunction of these immune cells results in the severe immunodeficiency observed in affected individuals.
Genetics[edit | edit source]
X-linked SCID is inherited in an X-linked recessive pattern. This means that the defective gene is located on the X chromosome. Males, having only one X chromosome, are more frequently affected, while females, with two X chromosomes, are typically carriers. However, in rare cases, females can also be affected if they have skewed X-inactivation or if they inherit two defective copies of the gene.
Symptoms[edit | edit source]
The symptoms of X-linked SCID usually appear in early infancy and include:
- Recurrent infections, such as pneumonia, meningitis, and sepsis
- Failure to thrive
- Chronic diarrhea
- Skin rashes
Diagnosis[edit | edit source]
Diagnosis of X-linked SCID involves:
- Newborn screening for SCID, which is now implemented in many regions
- Genetic testing to identify mutations in the IL2RG gene
- Immunological tests to assess the number and function of T cells, B cells, and NK cells
Treatment[edit | edit source]
The primary treatment for X-linked SCID is hematopoietic stem cell transplantation (HSCT), which can restore immune function. Gene therapy is an emerging treatment option that involves correcting the genetic defect in the patient's own cells.
Prognosis[edit | edit source]
With early diagnosis and treatment, individuals with X-linked SCID can lead relatively normal lives. However, without treatment, the condition is usually fatal within the first year of life due to overwhelming infections.
Research[edit | edit source]
Ongoing research in X-linked SCID focuses on improving gene therapy techniques and understanding the long-term outcomes of treated individuals. Researchers are also exploring the use of CRISPR and other gene-editing technologies to correct the genetic defect.
See Also[edit | edit source]
==
NIH genetic and rare disease info[edit source]
X-linked SCID is a rare disease.
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Contributors: Prab R. Tumpati, MD
