Condition Lookup
Sub-Category:
Immune System Dysregulation Disorders
Number of Conditions: 2
Hemophagocytic Lymphohistiocytosis (HLH)
Specialty: Allergies and Immunology
Category: Other Related Disorders
Sub-category: Immune System Dysregulation Disorders
Symptoms:
persistent high fever; hepatosplenomegaly (enlarged liver and spleen); cytopenias (low blood counts); lymphadenopathy; neurological symptoms (e.g., seizures, confusion)
Root Cause:
Overactivation of the immune system causing excessive inflammation and tissue damage due to failure of cytotoxic T-cells and natural killer (NK) cells to regulate immune response.
How it's Diagnosed: videos
Diagnosed using HLH diagnostic criteria (e.g., ferritin, bone marrow biopsy, genetic testing).
Treatment:
Treated with immunosuppressive therapy, chemotherapy (e.g., etoposide), and hematopoietic stem cell transplantation in severe cases.
Medications:
Immunosuppressive therapy (e.g., Dexamethasone , Etoposide ) and hematopoietic stem cell transplantation (HSCT).
Prevalence:
How common the health condition is within a specific population.
Rare; estimated at 1 in 800,000 in familial cases; higher in children.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations; Viral infections (e.g., Epstein-Barr Virus); Autoimmune diseases; Cancer
Prognosis:
The expected outcome or course of the condition over time.
Life-threatening if untreated; early intervention improves survival to 50–70%.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Multiorgan failure; Neurological damage; Recurrent HLH episodes in genetic cases
Autoimmune Lymphoproliferative Syndrome (ALPS)
Specialty: Allergies and Immunology
Category: Other Related Disorders
Sub-category: Immune System Dysregulation Disorders
Symptoms:
chronic lymphadenopathy; splenomegaly; autoimmune cytopenias (e.g., anemia, thrombocytopenia); recurrent infections
Root Cause:
Genetic mutations in apoptosis-regulating genes (e.g., FAS) causing failure to eliminate self-reactive lymphocytes, leading to autoimmunity and lymphoproliferation.
How it's Diagnosed: videos
Diagnosed through clinical symptoms, flow cytometry (e.g., elevated double-negative T cells), and genetic testing.
Treatment:
Treated with immunosuppressive agents (e.g., steroids) and biologics (e.g., rituximab).
Medications:
Immunosuppressants (e.g., Mycophenolate Mofetil), corticosteroids, and biologics (e.g., Rituximab ).
Prevalence:
How common the health condition is within a specific population.
Rare; exact prevalence unknown but more common in children.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of autoimmune diseases or genetic mutations in apoptosis pathways.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with treatment but requires lifelong monitoring for complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Increased risk of lymphoma; Recurrent infections; Severe autoimmune episodes