Skip to content
Use your HSA or FSA funds

Condition report · Immunological

Autoimmune Lymphoproliferative Syndrome (ALPS)

A condition in which lymphocytes fail to die off normally, causing long-lasting enlargement of lymph nodes and spleen, autoimmune blood cytopenias and a raised lymphoma risk. Most cases involve FAS; others involve FASLG, CASP10, CASP8 or related genes.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The condition we analyse

Autoimmune lymphoproliferative syndrome

Chronic lymph node and spleen enlargement, autoimmune cytopenias and raised double-negative T cells caused by changes in FAS, FASLG, CASP10 and related apoptosis genes.

What a diagnosis changes

Diagnosis allows sirolimus or other immunosuppression for cytopenias, avoidance of unnecessary splenectomy, lymphoma vigilance and family testing.

Genes analysed

Also known as

ALPS; ALPS (autoimmune lymphoproliferative syndrome); autoimmune lymphoproliferative syndrome type 1, autosomal dominant; Canale-Smith syndrome; FAS deficiency

Includes 9 related subtypes ↓
  • autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • autoimmune lymphoproliferative syndrome type 1
  • autoimmune lymphoproliferative syndrome type 2A
  • autoimmune lymphoproliferative syndrome type 2B
  • autoimmune lymphoproliferative syndrome type 4
  • autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
  • Castleman-Kojima disease
  • FAS-related autoimmune lymphoproliferative immune disorder
  • type 3 autoimmune lymphoproliferative syndrome
MONDO:0017979Orphanet 3261MedGen 231300

Limitations

  • Some people with ALPS carry a FAS change only in their blood cells (somatic), which a standard germline genome test may not detect.
  • FAS changes have variable penetrance; relatives can carry the same change without symptoms.

Other immunological conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium