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ALPS Registry

Autoimmune lymphoproliferative syndrome (ALPS) is a rare syndrome of impaired lymphocyte apoptosis, leading to lymphoproliferation and autoimmunity. Inheritance can occur in an autosomal-dominant or autosomal recessive fashion or may arise due to somatic mutations in hematopoetic progenitors. The clinical, immunological and genetic presentation of the disease is very heterogeneous. Many patients with lymphoproliferation and autoimmunity therefore remain without diagnosis. To improve this situation, we have established a registry and offer a careful standardized clinical, immunological and genetic analysis for these patients. On this basis, we will define phenotypic clusters of those patients who remain without a molecular diagnosis. This will allow the identification of novel biomarkers, a better understanding of the immunological basis of ALPS and ultimately the identification of new genes causing this complex disorder of immune regulation.

Contact 

What do we need?

• Please check eligibility of your patient according to Inclusion/Exclusion Criteria
• Inform patient or legal representatives about the project and ask for written consent
• Print out 3 consent forms per patient
• Please file first signed consent form in patient´s source data (health record), second consent form stays with the patient
• Print out clinical data sheet and fill in
• Please send third signed consent form, clinical data sheet and patient blood samples (4 ml serum plus 10 (-15) ml EDTA blood) plus 10 ml EDTA blood of a healthy control to Uniklinik Freiburg – CCI Advanced Diagnostics, Breisacher Str. 117 – 2. OG, 79106 Freiburg, Germany. For patients with German health insurance: please include transfer form (Überweisungsschein) for genetic analysis
• Please announce shipment in advance (via email or phone, see Contact)
• In case that the genetic analysis confirms the diagnosis, we will contact you again and we will ask for blood samples from family members after having obtained their consent
• We will contact you in yearly intervals and ask for follow-up information

Patient Inclusion and Exclusion Criteria

Inclusion

• Chronic benign lymphoproliferation (i.e. splenomegalie +/- lymphadenopathy > 3months, at >= 2 sites without infectious or malignant cause) and autoimmune cytopenia in >= 1 lineage. Or:
• Patients without lymphoproliferation but with autoimmune cytopenia in >= 2 lineages (Evan's Syndrome)

Exclusion

•  No written consent available 

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