Autoimmune Lymphoproliferative Syndrome (ALPS) panel [21 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.

Clinical features

  • Increased DN T cells
  • Reduced CD27+ B cells
  • Chronic non-malignant, non infectious lymphadenopathy

Prevalence

  • Unknown
  • At least 650 described pathogenic variants

Service benefits and management

  • Hematopoietic stem cell transplantation (HSCT)
  • Immunosupressor for autoimmunity reactions
  • Monoclonal Abs
  • Genetic counselling
  • Accurate diagnosis and phenotype-genotype correlation

CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IKZF1, HNF1A, IL2RA, ITK, KRAS, MCM4, LAT, LRBA, NRAS, PRKCD, RASGRP1, SH2D1A, STAT3, TNFAIP3

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