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Autoimmune-Lymphproliferative Primary Immunodeficiencies: A clinical, immunological and genetic cohort study (AL-PID study, formerly: ALPS study)

Recruiting
Conditions
Autoimmune Lymphoproliferative Syndrome other genetically defined or up to now not yet defined primary immunodeficiencies
Registration Number
DRKS00011383
Lead Sponsor
niversitätsklinikum FreiburgCentrum für Chronische Immundefizienz (CCI)
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Recruiting
Sex
All
Target Recruitment
600
Inclusion Criteria

1.Chronic benign lymphoproliferation (i.e. splenomegaly +/- lymphadenopathy at 2 sites without infectious or malignant cause)
AND
2.Autoimmune disease (i.e. AI cytopenia OR inflammatory bowel disease OR CNS inflammatory disease OR interstitial lung disease)
OR
one of the two above manifestions
AND
3.At least one factor indicating a primary immunodeficiency (i.e. infection susceptibility OR additional autoimmune or inflammatory manifestations OR hypogammaglobulinemia OR aberrant immunophenotype OR positive family history OR consanguinity)

Exclusion Criteria

No written informed consent of patient or parents (in case of minors) has been obtained

Study & Design

Study Type
observational
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
se the clinical, immunological and genetic data in this cohort to establish a diagnostic algorithm for patients with AL-PID
Secondary Outcome Measures
NameTimeMethod
not applicable
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