Forms and Documents
- Confirmation of the clinical diagnosis. Differentiation from malignant forms of lymphoproliferation.
- Distinguish sub-type of ALPS.
- Development of an appropriate treatment plan for affected individuals.
- Development of an appropriate medical surveillance plan for relatives at risk of lymphoma.
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Su HC and Lenardo MJ. Genetic defects of apoptosis and primary immunodeficiency. Immunology And Allergy Clinics Of North America. 2008 28(2):329-51, ix.18424336
- Wang J et al. Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell. 1999 Jul 9 98(1):47-58.10412980
- Zhu S et al. Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Human Genetics. 2006 119(3):284-94.16446975
- Chun HJ et al. Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature. 2002 419(6905):395-9.12353035
- Cerutti E et al. Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. Bmc Immunology. 2007 8:28.17999750
- Jackson CE et al. Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. American Journal Of Human Genetics. 1999 64(4):1002-14.10090885
- Vaishnaw AK et al. The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. The Journal Of Clinical Investigation. 1999 Feb 103(3):355-63.9927496
- Niemela J et al. Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings. Journal Of Clinical Immunology. 2015 May 35(4):348-55.25814141
- Shah S et al. Autoimmune lymphoproliferative syndrome: an update and review of the literature. Current Allergy And Asthma Reports. 2014 Sep 14(9):462.25086580
- Del-Rey M et al. A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. Blood. 2006 Aug 15 108(4):1306-12.16627752
- Magerus-Chatinet A et al. Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation. The Journal Of Allergy And Clinical Immunology. 2013 Feb 131(2):486-90.22857792
- Ruiz-García R et al. Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. Pediatric Research. 2015 Dec 78(6):603-8.26334989
- Nabhani S et al. A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome. Clinical Immunology (Orlando, Fla.). 2014 Dec 1