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.
- Next-Gen Sequencing
- Deletion/Duplication Analysis
- 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