Autoimmune Lymphoproliferative Syndrome (ALPS) Type 1A

Autoimmune lymphoproliferative syndrome type 1A (ALPS 1A) generally presents in early childhood, and is characterized by chronic, non-malignant lymphadenopathy, usually with autoimmunity. The underlying cause is a defect in lymphocyte apoptosis, or programmed cell death, leading to persistence of mature T and B cells including the usually rare CD4/CD8-double-negative T (DNT) cell. The formal diagnostic triad for ALPS is elevated DNT cells, hepato/splenomegaly, and defective in vitro lymphocyte apoptosis. Autoimmunity may be present, most often directed against erythrocytes, platelets and neutrophils. In some patients, skin rashes, glomerulonephritis, arthritis, Guillan-Barré syndrome and autoimmune hepatitis may occur. The disorder can vary significantly in severity, even within families. Some individuals have only positive laboratory findings, typically including DNT cells, autoantibodies (such as Coombs positivity), hypergammaglobulinemia (IgG, IgM, IgA), elevated serum IL-10, and elevated serum vitamin B12. ALPS patients and their mutation-bearing relatives have a significantly increased risk for both Hodgkin and non-Hodgkin lymphoma.

Tests Available

Forms and Documents

Test Details

  • Confirmation of the clinical diagnosis
  • Differentiation from malignant forms of lymphoproliferation and from other sub-types of ALPS
  • Identification of relatives carrying the TNFRSF6 mutation who may have less severe disease
  • Development of an appropriate treatment plan for affected individuals
  • Development of an appropriate medical surveillance plan for relatives at risk of lymphoma
  • Capillary Sequencing


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


  • 283 Acquired hemolytic anemias
  • 202.x Malignant neoplasms of lymphoid and histiocytic tissue, specific decimal required
  • 238.7 Other lymphatic and hematopoietic tissues
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  1. Jackson C,.et al., (1999), Autoimmune lymphoproferative syndrome with defective Fas: genotype influences penetrance, Am. J. Hum. Genet. 64:1002-1004
  2. Vaishnaw, A, et al., (1999), The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. J. Clin. Invest. 103: 355-363