Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
NCT ID: NCT02735824
Last Updated: 2024-01-18
Study Results
Results pending
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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Recruitment Status
RECRUITING
Total Enrollment
500 participants
Study Classification
OBSERVATIONAL
Study Start Date
2016-02-29
Study Completion Date
2027-12-31
Brief Summary
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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.
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Detailed Description
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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.
Conditions
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Immunologic Deficiency Syndromes
Study Design
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Observational Model Type
CASE_ONLY
Study Time Perspective
PROSPECTIVE
Study Groups
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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.
blood sampling and skin biopsy
Intervention Type
PROCEDURE
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.
blood sampling or mouth swap
Intervention Type
PROCEDURE
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.
blood sampling
Intervention Type
PROCEDURE
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.
Interventions
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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.
Intervention Type
PROCEDURE
blood sampling or mouth swap
specimen will be used for genetic testing, results compared to patients
Intervention Type
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.
Intervention Type
PROCEDURE
Eligibility Criteria
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Inclusion Criteria
* Patient with suspected PID, healthy relative or healthy volunteer
* consent
* consent
Exclusion Criteria
* none
Eligible Sex
ALL
Accepts Healthy Volunteers
Yes
Sponsors
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University Children's Hospital Basel
OTHER
Sponsor Role
collaborator
University Hospital, Geneva
OTHER
Sponsor Role
collaborator
University Children's Hospital, Zurich
OTHER
Sponsor Role
lead
Responsible Party
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Responsibility Role
SPONSOR
Principal Investigators
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Jana M Pachlopnik Schmid, MD PhD
Role: PRINCIPAL_INVESTIGATOR
University Children's Hospital, Zurich
Locations
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Division of Immunology
Zurich, Canton of Zurich, Switzerland
Site Status
RECRUITING
University of Basel Children's Hospital
Basel, , Switzerland
Site Status
RECRUITING
Countries
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Switzerland
Central Contacts
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Facility Contacts
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Ulrich Heininger, Prof. Dr., MD
Role: primary
References
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Vavassori S, Galson JD, Truck J, van den Berg A, Tamminga RYJ, Magerus-Chatinet A, Pelle O, Camenisch Gross U, Marques Maggio E, Prader S, Opitz L, Nuesch U, Mauracher A, Volkmer B, Speer O, Suda L, Rothlisberger B, Zimmermann DR, Muller R, Diepstra A, Visser L, Haralambieva E, Neven B, Rieux-Laucat F, Pachlopnik Schmid J. Lymphadenopathy driven by TCR-Vgamma8Vdelta1 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.
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Lewandowska DW, Capaul R, Prader S, Zagordi O, Geissberger FD, Kugler M, Knorr M, Berger C, Gungor T, Reichenbach J, Shah C, Boni 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.
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BACKGROUND
Simonis A, Fux M, Nair G, Mueller NJ, Haralambieva E, Pabst T, Pachlopnik Schmid J, Schmidt A, Schanz U, Manz MG, Muller 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.
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Mauracher AA, Gujer E, Bachmann LM, Gusewell 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.
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BACKGROUND
Truck J, Prader S, Natalucci G, Hagmann C, Brotschi B, Kelly J, Bassler D, Steindl K, Rauch A, Baumgartner M, Fingerhut R, Hauri-Hohl M, Gungor 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.
Reference Type
BACKGROUND
Mauracher AA, Pagliarulo F, Faes L, Vavassori S, Gungor 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. No abstract available.
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BACKGROUND
Lemoine R, Pachlopnik-Schmid J, Farin HF, Bigorgne A, Debre M, Sepulveda F, Heritier 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.
Reference Type
BACKGROUND
Pachlopnik Schmid J, Gungor 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.
Reference Type
BACKGROUND
Planas R, Felber M, Vavassori S, Pachlopnik Schmid J. The hyperinflammatory spectrum: from defects in cytotoxicity to cytokine control. Front Immunol. 2023 Apr 28;14:1163316. doi: 10.3389/fimmu.2023.1163316. eCollection 2023.
Reference Type
BACKGROUND
Prader S, Ritz N, Baleydier F, Andre MC, Stahli N, Schmid K, Schmid H, Woerner A, Diesch T, Meyer Sauteur PM, Truck J, Gebistorf F, Opitz L, Killian MP, Marchetti T, Vavassori S, Blanchard-Rohner G, Mc Lin V, Grazioli S, Pachlopnik Schmid J. X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children-A Case Report. Front Pediatr. 2021 Aug 3;9:691024. doi: 10.3389/fped.2021.691024. eCollection 2021.
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BACKGROUND
Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klambt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Haffner K, Gimpel C, Brotschi B, Laube G, Gungor T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. J Allergy Clin Immunol. 2021 Aug;148(2):381-393. doi: 10.1016/j.jaci.2021.03.045. Epub 2021 Apr 17.
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BACKGROUND
Marquardt L, Lacour M, Hoernes M, Opitz L, Lecca R, Volkmer B, Reichenbach J, Hohl D, Ansari M, Ozsahin H, Gungor T, Pachlopnik Schmid J. Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening. J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e147-e148. doi: 10.1111/jdv.13888. Epub 2016 Sep 5. No abstract available.
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RESULT
Schwab C, Gabrysch A, Olbrich P, Patino V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Duckers G, Niehues T, Fronkova E, Kanderova V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deya-Martinez A, Hambleton S, Kanegane H, Tasken K, Neth O, Grimbacher B. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol. 2018 Dec;142(6):1932-1946. doi: 10.1016/j.jaci.2018.02.055. Epub 2018 May 4.
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RESULT
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RESULT
Meshaal SS, El Hawary RE, Abd Elaziz DS, Eldash A, Alkady R, Lotfy S, Mauracher AA, Opitz L, Pachlopnik Schmid J, van der Burg M, Chou J, Galal NM, Boutros JA, Geha R, Elmarsafy AM. Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population. Clin Exp Immunol. 2019 Feb;195(2):202-212. doi: 10.1111/cei.13222. Epub 2018 Nov 4.
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RESULT
El Hawary RE, Mauracher AA, Meshaal SS, Eldash A, Abd Elaziz DS, Alkady R, Lotfy S, Opitz L, Galal NM, Boutros JA, Pachlopnik Schmid J, Elmarsafy AM. MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes. J Allergy Clin Immunol Pract. 2019 Mar;7(3):856-863. doi: 10.1016/j.jaip.2018.07.046. Epub 2018 Aug 28.
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RESULT
Prader S, Felber M, Volkmer B, Truck J, Schwieger-Briel A, Theiler M, Weibel L, Hambleton S, Seipel K, Vavassori S, Pachlopnik Schmid J. Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes. Front Immunol. 2018 Dec 3;9:2766. doi: 10.3389/fimmu.2018.02766. eCollection 2018.
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RESULT
Volkmer B, Planas R, Gossweiler E, Lunemann A, Opitz L, Mauracher A, Nuesch U, Gayden T, Kaiser D, Drexel B, Dumrese C, Jabado N, Vavassori S, Pachlopnik Schmid J. Recurrent inflammatory disease caused by a heterozygous mutation in CD48. J Allergy Clin Immunol. 2019 Nov;144(5):1441-1445.e17. doi: 10.1016/j.jaci.2019.07.038. Epub 2019 Aug 13. No abstract available.
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RESULT
Mauracher AA, Eekels JJM, Woytschak J, van Drogen A, Bosch A, Prader S, Felber M, Heeg M, Opitz L, Truck J, Schroeder S, Adank E, Klocperk A, Haralambieva E, Zimmermann D, Tantou S, Kotsonis K, Stergiou A, Kanariou MG, Ehl S, Boyman O, Sediva A, Renella R, Schmugge M, Vavassori S, Pachlopnik Schmid J. Erythropoiesis defect observed in STAT3 GOF patients with severe anemia. J Allergy Clin Immunol. 2020 Apr;145(4):1297-1301. doi: 10.1016/j.jaci.2019.11.042. Epub 2019 Dec 17. No abstract available.
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RESULT
Ghraichy M, Galson JD, Kovaltsuk A, von Niederhausern V, Pachlopnik Schmid J, Recher M, Jauch AJ, Miho E, Kelly DF, Deane CM, Truck J. Maturation of the Human Immunoglobulin Heavy Chain Repertoire With Age. Front Immunol. 2020 Aug 6;11:1734. doi: 10.3389/fimmu.2020.01734. eCollection 2020.
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RESULT
El Hawary R, Meshaal S, Mauracher AA, Opitz L, Abd Elaziz D, Lotfy S, Eldash A, Boutros J, Galal N, Pachlopnik Schmid J, Elmarsafy A. Whole-exome sequencing of T- B+ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants. Clin Exp Immunol. 2021 Mar;203(3):448-457. doi: 10.1111/cei.13536. Epub 2020 Nov 2.
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RESULT
Fouriki A, Schnider C, Theodoropoulou K, Pachlopnik J, Hofer M, Candotti F. [Newborn screening for severe T and B lymphocyte deficiencies in Switzerland]. Rev Med Suisse. 2021 Jan 13;17(720-1):68-76. French.
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RESULT
Hanitsch L, Baumann U, Boztug K, Burkhard-Meier U, Fasshauer M, Habermehl P, Hauck F, Klock G, Liese J, Meyer O, Muller R, Pachlopnik-Schmid J, Pfeiffer-Kascha D, Warnatz K, Wehr C, Wittke K, Niehues T, von Bernuth H. Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline. Eur J Immunol. 2020 Oct;50(10):1432-1446. doi: 10.1002/eji.202048713. Epub 2020 Sep 9.
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RESULT
Jagle S, Heeg M, Grun S, Rensing-Ehl A, Maccari ME, Klemann C, Jones N, Lehmberg K, Bettoni C, Warnatz K, Grimbacher B, Biebl A, Schauer U, Hague R, Neth O, Mauracher A, Pachlopnik Schmid J, Fabre A, Kostyuchenko L, Fuhrer M, Lorenz MR, Schwarz K, Rohr J, Ehl S. Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity. Clin Immunol. 2020 Jan;210:108316. doi: 10.1016/j.clim.2019.108316. Epub 2019 Nov 23.
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RESULT
Grazioli S, Tavaglione F, Torriani G, Wagner N, Rohr M, L'Huillier AG, Leclercq C, Perrin A, Bordessoule A, Beghetti M, Schmid JP, Vavassori S, Perreau M, Eberhardt C, Didierlaurent A, Kaiser L, Eckerle I, Roux-Lombard P, Blanchard-Rohner G. Immunological Assessment of Pediatric Multisystem Inflammatory Syndrome Related to Coronavirus Disease 2019. J Pediatric Infect Dis Soc. 2021 Aug 14;10(6):706-713. doi: 10.1093/jpids/piaa142.
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RESULT
Blanchard-Rohner G, Pachlopnik Schmid J, Candotti F, Hofer M. [Pediatric COVID-19 - Pathophysiology, immune responses, genetic predispositions, hyperinflammatory syndrome]. Rev Med Suisse. 2021 Feb 17;17(726):334-337. French.
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RESULT
Fouriki A, Fougere Y, De Camaret C, Blanchard Rohner G, Grazioli S, Wagner N, Relly C, Pachlopnik Schmid J, Truck J, Kottanatu L, Perez E, Perez MH, Schaffner D, Asner SA, Hofer M. Case Report: Case Series of Children With Multisystem Inflammatory Syndrome Following SARS-CoV-2 Infection in Switzerland. Front Pediatr. 2021 Jan 5;8:594127. doi: 10.3389/fped.2020.594127. eCollection 2020.
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RESULT
Dedual MA, Wueest S, Challa TD, Lucchini FC, Aeppli TRJ, Borsigova M, Mauracher AA, Vavassori S, Pachlopnik Schmid J, Bluher M, Konrad D. Obesity-Induced Increase in Cystatin C Alleviates Tissue Inflammation. Diabetes. 2020 Sep;69(9):1927-1935. doi: 10.2337/db19-1206. Epub 2020 Jul 2.
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RESULT
Felber M, Steward CG, Kentouche K, Fasth A, Wynn RF, Zeilhofer U, Haunerdinger V, Volkmer B, Prader S, Gruhn B, Ehl S, Lehmberg K, Muller D, Gennery AR, Albert MH, Hauck F, Rao K, Veys P, Hassan M, Lankester AC, Schmid JP, Hauri-Hohl MM, Gungor T. Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis. Blood Adv. 2020 May 12;4(9):1998-2010. doi: 10.1182/bloodadvances.2020001748.
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RESULT
Weins AB, Theiler M, Bogatu B, Kerl K, Pleimes M, Pachlopnik-Schmid J, Weibel L. Febrile ulceronecrotic Mucha-Habermann disease mimicking Kawasaki disease. J Dtsch Dermatol Ges. 2020 Feb;18(2):140-142. doi: 10.1111/ddg.13989. Epub 2019 Dec 9. No abstract available.
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RESULT
Nuesch U, Mauracher AA, Opitz L, Volkmer B, Michalak-Micka K, Kamarashev J, Hartwig T, Reichmann E, Becher B, Vavassori S, Pachlopnik Schmid J. Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes. J Allergy Clin Immunol. 2019 Jan;143(1):292-304.e8. doi: 10.1016/j.jaci.2018.02.057. Epub 2018 Jun 14.
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Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I. Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. Ann Rheum Dis. 2018 Apr;77(4):612-619. doi: 10.1136/annrheumdis-2017-212401. Epub 2018 Jan 22.
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Schepp J, Proietti M, Frede N, Buchta M, Hubscher K, Rojas Restrepo J, Goldacker S, Warnatz K, Pachlopnik Schmid J, Duppenthaler A, Lougaris V, Uriarte I, Kelly S, Hershfield M, Grimbacher B. Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. Arthritis Rheumatol. 2017 Aug;69(8):1689-1700. doi: 10.1002/art.40147. Epub 2017 Jul 5.
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Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Gungor T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Doffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5.
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Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, Cattalini M, Anton J, Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, Gattorno M; Paediatric Rheumatology International Trials Organisation and Eurofever Project. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry. Arthritis Rheumatol. 2016 Nov;68(11):2795-2805. doi: 10.1002/art.39763.
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Ravelli A, Minoia F, Davi S, Horne A, Bovis F, Pistorio A, Arico M, Avcin T, Behrens EM, De Benedetti F, Filipovic L, Grom AA, Henter JI, Ilowite NT, Jordan MB, Khubchandani R, Kitoh T, Lehmberg K, Lovell DJ, Miettunen P, Nichols KE, Ozen S, Pachlopnik Schmid J, Ramanan AV, Russo R, Schneider R, Sterba G, Uziel Y, Wallace C, Wouters C, Wulffraat N, Demirkaya E, Brunner HI, Martini A, Ruperto N, Cron RQ; Paediatric Rheumatology International Trials Organisation; Childhood Arthritis and Rheumatology Research Alliance; Pediatric Rheumatology Collaborative Study Group; Histiocyte Society. 2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative. Ann Rheum Dis. 2016 Mar;75(3):481-9. doi: 10.1136/annrheumdis-2015-208982.
Reference Type
RESULT
Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Gross-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis. Haematologica. 2015 Jul;100(7):978-88. doi: 10.3324/haematol.2014.121608. Epub 2015 May 28.
Reference Type
RESULT
Sepulveda FE, Debeurme F, Menasche G, Kurowska M, Cote M, Pachlopnik Schmid J, Fischer A, de Saint Basile G. Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11. Blood. 2013 Jan 24;121(4):595-603. doi: 10.1182/blood-2012-07-440339. Epub 2012 Nov 16.
Reference Type
RESULT
Kannan A, Suomalainen M, Volle R, Bauer M, Amsler M, Trinh HV, Vavassori S, Schmid JP, Vilhena G, Marin-Gonzalez A, Perez R, Franceschini A, Mering CV, Hemmi S, Greber UF. Sequence-Specific Features of Short Double-Strand, Blunt-End RNAs Have RIG-I- and Type 1 Interferon-Dependent or -Independent Anti-Viral Effects. Viruses. 2022 Jun 28;14(7):1407. doi: 10.3390/v14071407.
Reference Type
DERIVED
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
GSI KEK_2015-0555
Identifier Type: -
Identifier Source: org_study_id
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