T-B+ severe combined immunodeficiency (SCID) [12 genes]

This form of severe combined immunodeficiency (SCID) is characterized by lack of functional peripheral T lymphocytes, and by normal levels of B lymphocytes although their function is compromised. In addition, these defects may be accompanied by absence of functional NK cells. SCID T-B+ is caused by alterations in different genes mainly involved in the maturation of T cells.

  • 1/100,000 – 1/1,000,000
  • 50% of SCID
  • Common in Europe

  • Differential diagnosis with BLS or agammaglobulinemia
  • Genetic counseling
  • Hematopoietic stem cell transplantation (HSCT)
  • Gene therapy

Identifying a genetic defect responsible for the disease would allow a precise molecular diagnosis to be issued and make it possible to provide genetic counseling to the patient and their family members. In some cases, detecting a genetic variant can help explore specific treatment options.

In the case of severe combined immunodeficiencies, the treatment is usually bone marrow transplantation, but new emerging gene therapies open the door to other treatments that may be applied shortly.

  • Severe life-threatening infections (viral, fungal, bacterial)
  • Diarrhea
  • Failure to thrive
  • Autoimmunity
  • Onset: neonatal, infancy

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Steps to follow
Steps to follow

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1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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T-B+ severe combined immunodeficiency (SCID)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110434

T-B+ severe combined immunodeficiency (SCID): View panel
  • CD247
  • CD3D
  • CD3E
  • CD3G
  • CORO1A
  • FOXN1
  • IL2RA
  • IL2RB
  • IL2RG
  • IL7R
  • JAK3
  • PTPRC

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Bousfiha A, Jeddane L, Picard C, et al. The 2017 IUIS Phenotypic Classification for Inmunodeficiencias primarias. J Clin Immunol. 2018;38(1):129-143. doi:10.1007/s10875-017-0465-8
  2. Fischer, A. (2000). Severe combined immunodeficiencies (SCID). Clinical and Experimental Immunology, 122(2), 143–149. https://doi.org/10.1046/J.1365-2249.2000.01359.X
  3. Immune deficiency foundation (IDF). Severe Combined Immune Deficiency and Combined Immune Deficiency. https://primaryimmune.org/about-primaryimmunodeficiencies/specific-disease-types/severe-combined-immune-deficiency-and-combined-immune-deficiency. Accessed April 5, 2018.
  4. National Human Genome Research Institute (NHGRI). Learning About Severe Combined Immunodeficiency (SCID). https://www.genome.gov/13014325/learning-about-severe-combined-immunodeficiency-scid/. Published 2014. Accessed April 5, 2018.
  5. Rivers, L., & Gaspar, H. B. (2015). Severe combined immunodeficiency: recent developments and guidance on clinical management. Archives of Disease in Childhood, 100(7), 667–672. https://doi.org/10.1136/archdischild-2014-306425