Autoimmune lymphoproliferative syndrome
A rare genetic disorder affecting the immune system
Autoimmune lymphoproliferative syndrome | |
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Synonyms | Canale-Smith syndrome |
Pronounce | |
Field | Immunology, Hematology, Pediatrics |
Symptoms | Lymphadenopathy, splenomegaly, autoimmune cytopenias, recurrent fevers, fatigue |
Complications | Hemolytic anemia, thrombocytopenia, neutropenia, increased risk of lymphoma |
Onset | Usually in early childhood |
Duration | Chronic |
Types | ALPS-FAS, ALPS-FASL, ALPS-CASP10, and others based on genetic mutation |
Causes | Mutations in the FAS gene or related genes involved in lymphocyte apoptosis |
Risks | Family history of ALPS or related immune disorders |
Diagnosis | Clinical symptoms, elevated double-negative T cells, genetic testing, biomarkers such as IL-10, vitamin B12, and sFASL |
Differential diagnosis | Common variable immunodeficiency, systemic lupus erythematosus, Evans syndrome, infectious mononucleosis |
Prevention | None known |
Treatment | Immunosuppressive therapy, corticosteroids, intravenous immunoglobulin (IVIG), splenectomy in severe cases |
Medication | Sirolimus, mycophenolate mofetil, rituximab, corticosteroids |
Prognosis | Variable; many respond well to treatment, but lifelong monitoring is often needed |
Frequency | Rare |
Deaths | Can occur from complications or progression to lymphoma |
Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder characterized by the abnormal regulation of the immune system, leading to the proliferation of lymphocytes and the development of autoimmunity. This condition is primarily caused by mutations in genes that are crucial for the process of apoptosis, which is the programmed cell death necessary for maintaining immune system balance.
Pathophysiology[edit | edit source]
ALPS is primarily associated with mutations in the FAS gene, which encodes a protein that plays a critical role in the apoptotic pathway. The FAS protein is a cell surface receptor that, when bound to its ligand, initiates a cascade of events leading to cell death. Mutations in the FAS gene disrupt this process, resulting in the accumulation of lymphocytes, particularly T cells, and the development of lymphoproliferative disorders.
The failure of apoptosis in ALPS leads to the accumulation of autoreactive lymphocytes, which can attack the body's own tissues, causing autoimmune diseases. Common autoimmune manifestations in ALPS include autoimmune hemolytic anemia, immune thrombocytopenic purpura, and neutropenia.
Clinical Features[edit | edit source]
Patients with ALPS typically present with chronic lymphadenopathy and splenomegaly. The condition often manifests in early childhood, although the age of onset can vary. In addition to lymphoproliferation, individuals with ALPS may experience recurrent infections due to immune dysregulation and the presence of autoantibodies.
Other clinical features may include:
Diagnosis[edit | edit source]
The diagnosis of ALPS is based on clinical criteria, laboratory findings, and genetic testing. Key laboratory findings include elevated levels of double-negative T cells (TCRαβ+ CD4− CD8−) and increased serum levels of vitamin B12 and interleukin-10. Genetic testing can confirm mutations in the FAS gene or other related genes involved in the apoptotic pathway.
Management[edit | edit source]
Management of ALPS involves addressing both the lymphoproliferative and autoimmune components of the disease. Treatment options may include:
- Corticosteroids to manage autoimmune cytopenias
- Immunosuppressive drugs such as mycophenolate mofetil or sirolimus
- Intravenous immunoglobulin (IVIG) for severe autoimmune manifestations
- Splenectomy in cases of severe splenomegaly or refractory cytopenias
Prognosis[edit | edit source]
The prognosis for individuals with ALPS varies depending on the severity of the disease and the response to treatment. With appropriate management, many patients can lead relatively normal lives, although they may require ongoing monitoring and treatment for autoimmune complications.
Related pages[edit | edit source]
External links[edit | edit source]
Classification | |
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