GSI: Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Study Details
Study Description
Brief Summary
Individuals with suspected primary immunodeficiency will be studied and the results compared with healthy controls. Primary immunodeficiency may manifest as recurrent, severe or unusual infections as well as signs and symptoms of immune dysregulation such as autoimmunity or lymphoproliferation.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Detailed Description
Patients with a suspected immunodeficiency will be identified and invited to participate. Upon agreement, an additional blood sample will be collected when they have their routine bloods taken. If the study participants undergoes anaesthesia for any other reason, a small skin biopsy will be taken as well. Additional samples including blood samples or mouth swabs will be taken from healthy family members. Blood from healthy controls will only be taken when there is a clinical need for blood sampling (or when the study participant is already anaesthetised for any other reason) and not for research purposes only.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| patients with suspected PID From included patients with suspected primary immunodeficiency (PID), i.e. patients with recurrent/unusual infection, immune dysregulation and/or susceptibility to malignancies from whom consent to participate was obtained, nucleated blood cells and/or fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement. |
Procedure: blood sampling and skin biopsy
Nucleated blood cells and/or fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement.
|
| healthy relatives of patients with PID From healthy relatives of patients with suspected PID from whom consent to participate was obtained, nucleated cells will be used for genetic testing in order to compare their genetic information with the one form their relatives with suspected PID. |
Procedure: blood sampling or mouth swap
specimen will be used for genetic testing, results compared to patients
|
| Healthy volunteers From healthy volunteers from whom consent to participate was obtained, nucleated blood cells will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement. The data obtained will be compared to age matched patients with suspected PID. |
Procedure: blood sampling
Nucleated blood cells and/or fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement.
|
Outcome Measures
Primary Outcome Measures
- Number of patients with suspected PID for whom a genetic cause has been identified [Through study completion, an average of 3 years]
Number of patients with suspected primary immunodeficiency included in the study for whom a diagnosis can be made with the genetic and functional data obtained from patients, their relatives and healthy volunteers.
Eligibility Criteria
Criteria
Inclusion Criteria:
-
Patient with suspected PID, healthy relative or healthy volunteer
-
consent
Exclusion Criteria:
- none
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Division of Immunology | Zurich | ZH | Switzerland | 8032 |
| 2 | University of Basel Children's Hospital | Basel | Switzerland | 4031 |
Sponsors and Collaborators
- University Children's Hospital, Zurich
- University Children's Hospital Basel
- University Hospital, Geneva
Investigators
- Principal Investigator: Jana M Pachlopnik Schmid, MD PhD, University Children's Hospital, Zurich
Study Documents (Full-Text)
None provided.More Information
Publications
- Lemoine R, Pachlopnik-Schmid J, Farin HF, Bigorgne A, Debré M, Sepulveda F, Héritier S, Lemale J, Talbotec C, Rieux-Laucat F, Ruemmele F, Morali A, Cathebras P, Nitschke P, Bole-Feysot C, Blanche S, Brousse N, Picard C, Clevers H, Fischer A, de Saint Basile G. Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. J Allergy Clin Immunol. 2014 Dec;134(6):1354-1364.e6. doi: 10.1016/j.jaci.2014.07.019. Epub 2014 Aug 28.
- Lewandowska DW, Capaul R, Prader S, Zagordi O, Geissberger FD, Kügler M, Knorr M, Berger C, Güngör T, Reichenbach J, Shah C, Böni J, Zbinden A, Trkola A, Pachlopnik Schmid J, Huber M. Persistent mammalian orthoreovirus, coxsackievirus and adenovirus co-infection in a child with a primary immunodeficiency detected by metagenomic sequencing: a case report. BMC Infect Dis. 2018 Jan 11;18(1):33. doi: 10.1186/s12879-018-2946-7.
- Mauracher AA, Gujer E, Bachmann LM, Güsewell S, Pachlopnik Schmid J. Patterns of Immune Dysregulation in Primary Immunodeficiencies: A Systematic Review. J Allergy Clin Immunol Pract. 2021 Feb;9(2):792-802.e10. doi: 10.1016/j.jaip.2020.10.057. Epub 2020 Nov 11.
- Mauracher AA, Pagliarulo F, Faes L, Vavassori S, Güngör T, Bachmann LM, Pachlopnik Schmid J. Causes of low neonatal T-cell receptor excision circles: A systematic review. J Allergy Clin Immunol Pract. 2017 Sep - Oct;5(5):1457-1460.e22. doi: 10.1016/j.jaip.2017.02.009. Epub 2017 Mar 27.
- Pachlopnik Schmid J, Güngör T, Seger R. Modern management of primary T-cell immunodeficiencies. Pediatr Allergy Immunol. 2014 Jun;25(4):300-13. doi: 10.1111/pai.12179. Epub 2014 Jan 3. Review.
- Simonis A, Fux M, Nair G, Mueller NJ, Haralambieva E, Pabst T, Pachlopnik Schmid J, Schmidt A, Schanz U, Manz MG, Müller AMS. Allogeneic hematopoietic cell transplantation in patients with GATA2 deficiency-a case report and comprehensive review of the literature. Ann Hematol. 2018 Oct;97(10):1961-1973. doi: 10.1007/s00277-018-3388-4. Epub 2018 Jun 13. Review.
- Trück J, Prader S, Natalucci G, Hagmann C, Brotschi B, Kelly J, Bassler D, Steindl K, Rauch A, Baumgartner M, Fingerhut R, Hauri-Hohl M, Güngör T, Pachlopnik Schmid J, Berger C, Reichenbach J. Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations. Swiss Med Wkly. 2020 Jun 24;150:w20254. doi: 10.4414/smw.2020.20254. eCollection 2020 Jun 15.
- Vavassori S, Galson JD, Trück J, van den Berg A, Tamminga RYJ, Magerus-Chatinet A, Pellé O, Camenisch Gross U, Marques Maggio E, Prader S, Opitz L, Nüesch U, Mauracher A, Volkmer B, Speer O, Suda L, Röthlisberger B, Zimmermann DR, Müller R, Diepstra A, Visser L, Haralambieva E, Neven B, Rieux-Laucat F, Pachlopnik Schmid J. Lymphadenopathy driven by TCR-V(γ)8V(δ)1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome. Blood Adv. 2017 Jun 22;1(15):1101-1106. doi: 10.1182/bloodadvances.2017006411. eCollection 2017 Jun 27.
- GSI KEK_2015-0555