Bare lymphocyte syndrome (BLS) [13 genes]

Bare lymphocyte syndrome (BLS) is a group of combined immunodeficiencies in which B and T cells do not express the major histocompatibility (HLA) proteins on their surface. There are three types of BLS: BLS I is characterized by low or no expression of HLA class I molecules and a reduced number of functional B and T cells; BLS II is characterized by a reduction or complete loss of HLA class II protein expression on the surface of professional APCs that ultimately leads to a deficit of antibody production, and BLS III is caused by the absence of both HLA class I and class II antigen expression.

  • BLS I: aprox. 30 cases described
  • BLS II: aprox. 100 cases described

  • Differential diagnosis: SCID
  • 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. Bone marrow transplant is usually the treatment of choice, but with the new emerging gene therapies, the door opens to other treatments that can be applied shortly.

  • Respiratory tract infections
  • Agammaglobulinemia
  • BLS II more severe than BLS I
  • Onset: infancy, childhood

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Bare lymphocyte syndrome (BLS)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008258

Bare lymphocyte syndrome (BLS): View panel
  • B2M
  • CD8A
  • CIITA
  • LCK
  • MAGT1
  • RFX5
  • RFXANK
  • RFXAP
  • TAP1
  • TAP2
  • TAPBP
  • UNC119
  • ZAP70

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. Blum JS. Bare Lymphocyte Syndrome. In: Encyclopedia of Immunology. Elsevier; 1998:329-332. doi:10.1006/rwei.1999.0085
  2. Genetics Home Reference. Bare lymphocyte syndrome type I. https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-i#. Bare lymphocyte syndrome type II. https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii#inheritance.Accessed April 6, 2018.
  3. Gokturk B, Artac H, van Eggermond MJ, van den Elsen P, Reisli İ. Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report. Int J Immunogenet. 2012;39(4):362-364. doi:10.1111/j.1744-313X.2012.01105.x
  4. Kallen ME, Pullarkat ST. Type II Bare Lymphocyte Syndrome. J Pediatr Hematol Oncol. 2015;37(4):e245-e249. doi:10.1097/MPH.0000000000000278
  5. Shrestha D, Szöllősi J, Jenei A. Bare lymphocyte syndrome: An opportunity to discover our immune system. Immunol Lett. 2012;141(2):147-157.doi:10.1016/j.imlet.2011.10.007