Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. [ncbi.nlm.nih.gov]

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. [genedx.com]

Acronym ALPS2A Synonyms ALPS2 Autoimmune lymphoproliferative syndrome, type II Autoimmune lymphoproliferative syndrome type IIA Any medical or genetic information present in this entry is provided for research, educational and informational purposes only [uniprot.org]

Tadaki H, Saitsu H, Kanegane H et al (2011) Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. [link.springer.com]

• Splenectomy

  […] somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (α/β-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy [ncbi.nlm.nih.gov]

• Splenomegaly

  […] variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly [ncbi.nlm.nih.gov]

  Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly). Autoimmune disorders are also common in ALPS. [medlineplus.gov]

  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. [genedx.com]

[…] and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment [ncbi.nlm.nih.gov]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Teachey DT (2012) New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome. Curr Opin Pediatr 24:1–8 PubMed Central Article CAS PubMed Google Scholar 18. [link.springer.com]

Development of an appropriate treatment plan for affected individuals. Development of an appropriate medical surveillance plan for relatives at risk of lymphoma. [genedx.com]

Clin Rheumatol 23:43–44 Article CAS PubMed Google Scholar 11. der Werff V, ten Bosch J (2003) Autoimmune lymphoproliferative syndrome: etiology, diagnosis, and management. Paediatr Drugs 5:185–193 Article Google Scholar 12. [link.springer.com]