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P-CID Observational Study
Combined immunodeficiencies (CID) are a heterogeneous group of inherited immune disorders with impaired T cell development or function manifesting through increased susceptibility to infections and/or immune dysregulation. They can be delineated from SCID by their manifestation beyond the first year of life. Profound CID (P-CID) is a potentially life-threatening form of CID, in which SCT is a relevant consideration at diagnosis. In this prospective cohort study, natural history data will be collected on children with profound combined immunodeficiency (P-CID).
Contact
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Study Coordination
Prof. Dr. med. Stephan Ehl stephan.ehl@uniklinik-freiburg.de Dr. med. Carsten Speckmann carsten.speckmann@uniklinik-freiburg.de |
P-CID
Centre of Chronic Immunodeficiency Breisacher Str. 117, 2nd level D-79106 Freiburg Tel. +49 761 270-77110 Fax +49 761 270-73770 p-cid@uniklinik-freiburg.de |
All you need for patient inclusion
STUDY DOCUMENTS FOR PATIENT INCLUSION 
Study Inclusion and Exclusion Criteria
Inclusion and Exclusion Criteria
Study Synopsis, Protocol and Flow Diagram
 Synopsis
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Flow Diagram
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Study Protocol
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Interested to participate?
In case you are interested to participate as a centre, please contact Stephan Ehl for further information.
Genetic and immunological diagnosis of CID
Combined immunodeficiencies are a hetergenous group of diseases with a similar clinical presentation. Immunologic and genetic diagnosis is difficult and often costly. To provide an orientation, we propose a diagnostic algorithm based on laboratory abnormalities, features of immune dysregulation and syndromal features. Since knowledge in this field is growing rapidly, this is a provisional algorithm and we would be happy about feedback (Stephan Ehl and Capucine Picard).
1 - Laboratory abnormalities in the differential diagnosis of CID
2 - Features of immune dysregulation in the differential diagnosis of CID
3 - Syndromal features in the differential diagnosis of CID
We have also compiled a list of immunological and genetic tests relevant for the diagnosis of P-CID. The participating centers in the P-CID study provide information about the diagnostic services they offer on a routine and a research basis. Please do not hesitate to contact these groups for help with the diagnosis of your patient.
List of Laboratory Tests and Facilities
Case Discussion
Members of the P-CID steering committee are happy to provide advice for immunologic and genetic diagnosis and for treatment decisions for patients with all forms of combined immunodeficiency. Please use the provided case discussion form for a structured case presentation. It can be sent to p-cid@uniklinik-freiburg.de and will be fowarded to the members of the committee.
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