Systemic lupus erythematosus syndrome (SLE-like) [8 genes]

Complement’s classical pathway deficiency

The classical pathway of the complement system is activated primarily by immune complexes. The rheumatic diseases seen in complement-deficient patients can result from disordered humoral immunity, since the complement system is important in the generation and expression of an adequate antibody response. It is also partially required for tolerance induction. Rheumatic and autoimmune manifestations occur frequently in C1q- and C3-deficient patients. In addition, some rheumatic disorders may be the consequence of an altered host response to recurrent or chronic viral infections.

  • Typical rheumatic symptoms of lupus (SLE-like)
  • Onset: childhood, adulthood

Rare

  • Diagnosis and genetic counseling
  • Anti-inflammatory therapy
  • Vaccination
  • Prophylactic antibiotics

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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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Systemic lupus erythematosus syndrome (SLE-like)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008268

Systemic lupus erythematosus syndrome (SLE-like): View panel
  • C1QA
  • C1QB
  • C1QC
  • C1R
  • C1S
  • C2
  • C4A
  • C4B

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.

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Systemic lupus erythematosus syndrome (SLE-like) [8 genes]

References

  1. Casciola-Rosen LA. Autoantigens targeted in systemic lupus erythematosus are clustered in two populations of surface structures on apoptotic keratinocytes. J Exp Med. 1994;179(4):1317-1330. doi:10.1084/jem.179.4.1317
  2. IUIS Scientific Committee. Primary Immunodeficiency Diseases. Vol 118. (Rezaei N, Aghamohammadi A, Notarangelo LD, eds.). Berlin, Heidelberg: Springer Berlin Heidelberg; 2017. doi:10.1007/978-3-662-52909-6
  3. Sullivan KE, Stiehm ER. Stiehm’s Immune Deficiencies. Elsevier; 2014. doi:10.1016/C2012-1-01317-3