Autoimmune lymphoproliferative syndrome (APLS) [26 genes]

Autoimmune lymphoproliferative syndrome (ALPS) is a genetic autoimmune disorder that affects the regulation of lymphocyte homeostasis, especially the apoptotic mechanism that occurs during T cell selection. Genetic testing is the primary diagnostic method for patients with the following matching criteria: increased DN T cells + chronic non-malignant, non-infectious lymphadenopathy. There are other laboratory findings and non-specific abnormalities present in ALPS and ALPS-like patients that increase the complexity of diagnosis.

  • Increase in DN T-cells
  • Reduction of CD27+ B-cells
  • Chronic non-malignant, non-infectious lymphadenopathy

  • Unknown
  • At least 650 pathogenic variants described

  • Diagnosis and genetic counseling
  • Immunosuppressants
  • Monoclonal antibodies
  • Hematopoietic stem cell transplantation (HSCT)

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Autoimmune lymphoproliferative syndrome (APLS)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110278

Autoimmune lymphoproliferative syndrome (APLS): View panel
  • CASP10
  • CASP8
  • CD27
  • CD70
  • CTLA4
  • FADD
  • FAS
  • FASLG
  • HNF1A
  • IKZF1
  • IL2RA
  • IL2RB
  • ITCH
  • ITK
  • KRAS
  • LAT
  • LRBA
  • MCM4
  • NRAS
  • PRKCD
  • RASGRP1
  • SH2D1A
  • STAT3
  • TNFAIP3
  • TNFRSF9
  • TPP3

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. Bleesing J. JH. Autoimmune Lymphoproliferative Syndrome. Initial Posting: September 14, 2006; Last Update: August 24, 2017. GeneReviews®.
  2. Bousfiha A. et al. The 2017 IUIS Phenotypic Classification for Inmunodeficiencias primarias. J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8. Epub 2017 Dec 11.
  3. Dowdell KC1, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB, Puck JM, Jaffe ES, Pittaluga S, Cohen JI, Fleisher TA, Rao VK. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood. 2010 Jun 24;115(25):5164-9. doi: 10.1182/blood-2010-01-263145. Epub 2010 Apr 1.
  4. Lim MS, Straus SE, Dale JK, et al. Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol 1998;153(5):1541-1550.
  5. Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, Rieux-Laucat F, Siegel RM, Su HC, Teachey DT, Rao VK. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood. 2010;116:e35–40.