Genetisk studie av immunsvikt: Søk etter nye genetiske årsaker til primære immunsvikt (GSI)
11. mai 2026 oppdatert av: University Children's Hospital, Zurich
Personer med mistanke om primær immunsvikt vil bli studert og resultatene sammenlignet med friske kontroller.
Primær immunsvikt kan manifestere seg som tilbakevendende, alvorlige eller uvanlige infeksjoner samt tegn og symptomer på immunforstyrrelser som autoimmunitet eller lymfoproliferasjon.
Studieoversikt
Status
Rekruttering
Intervensjon / Behandling
Detaljert beskrivelse
Pasienter med mistanke om immunsvikt vil bli identifisert og invitert til å delta.
Etter avtale vil det bli tatt en ekstra blodprøve når de får tatt rutineblod.
Hvis studiedeltakerne gjennomgår anestesi av en annen grunn, vil det også bli tatt en liten hudbiopsi.
Ytterligere prøver inkludert blodprøver eller munnprøver vil bli tatt fra friske familiemedlemmer.
Blod fra friske kontroller vil kun tas når det er et klinisk behov for blodprøvetaking (eller når studiedeltakeren allerede er bedøvet av en annen grunn) og ikke kun for forskningsformål.
Studietype
Observasjonsmessig
Registrering (Antatt)
500
Kontakter og plasseringer
Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.
Studiekontakt
- Navn: Jana M Pachlopnik Schmid, MD PhD
- Telefonnummer: +41 44 249 64 70
- E-post: jana.pachlopnik@kispi.uzh.ch
Studiesteder
-
-
Canton of Zurich
-
Zurich, Canton of Zurich, Sveits, 8008
- Rekruttering
- Division of Immunology
-
Ta kontakt med:
- Jana M Pachlopnik Schmid, Prof. Dr., MD PhD
- Telefonnummer: +41 44 249 64 70
- E-post: jana.pachlopnik@kispi.uzh.ch
-
-
Deltakelseskriterier
Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
- Barn
- Voksen
- Eldre voksen
Tar imot friske frivillige
Ja
Prøvetakingsmetode
Ikke-sannsynlighetsprøve
Studiepopulasjon
populasjon som gruppene eller kohortene skal velges fra: poliklinikk og poliklinikk ved avdeling for immunologi, Univ.
Chlindrens Hospital Zürich
Beskrivelse
Inklusjonskriterier:
- Pasient med mistanke om PID, frisk slektning eller frisk frivillig
- samtykke
Ekskluderingskriterier:
- ingen
Studieplan
Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.
Hvordan er studiet utformet?
Designdetaljer
Kohorter og intervensjoner
Gruppe / Kohort |
Intervensjon / Behandling |
|---|---|
|
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.
|
A punch biopsy of the skin and underlying connective tissue is performed to establish fibroblast cultures.
For pediatric patients, the procedure is conducted while the patient is under general anesthesia for other clinical indications.
For adult patients, the biopsy is performed under local anesthesia as needed.
This intervention follows cosmetic/aesthetic considerations and is therefore typically collected from the inner aspect of the upper arm.
Non-invasive collection of epithelial cells via a swab of the buccal mucosa (inner cheek) to obtain biological material for comparative genetic analysis with minimal burden.
Collection of nucleated blood cells, serum, and plasma from blood and subsequent genetic testing, functional assays, as well as antibody and cytokine measurements.
To minimize risk and burden, blood sampling in pediatric patients is opportunistic (performed during routine clinical diagnostics or while under anesthesia) and capped at 1% of total blood volume per sampling and 3% over a 4-week period (adjusted by body weight).
In adult patients, up to 50mL venous blood is sampled, typically performed during clinic visits or routine check-ups.
|
|
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.
|
Non-invasive collection of epithelial cells via a swab of the buccal mucosa (inner cheek) to obtain biological material for comparative genetic analysis with minimal burden.
Collection of nucleated blood cells, serum, and plasma from blood and subsequent genetic testing, functional assays, as well as antibody and cytokine measurements.
To minimize risk and burden, blood sampling in pediatric patients is opportunistic (performed during routine clinical diagnostics or while under anesthesia) and capped at 1% of total blood volume per sampling and 3% over a 4-week period (adjusted by body weight).
In adult patients, up to 50mL venous blood is sampled, typically performed during clinic visits or routine check-ups.
|
|
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.
|
Non-invasive collection of epithelial cells via a swab of the buccal mucosa (inner cheek) to obtain biological material for comparative genetic analysis with minimal burden.
Collection of nucleated blood cells, serum, and plasma from blood and subsequent genetic testing, functional assays, as well as antibody and cytokine measurements.
To minimize risk and burden, blood sampling in pediatric patients is opportunistic (performed during routine clinical diagnostics or while under anesthesia) and capped at 1% of total blood volume per sampling and 3% over a 4-week period (adjusted by body weight).
In adult patients, up to 50mL venous blood is sampled, typically performed during clinic visits or routine check-ups.
|
Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
|
Antall pasienter med mistenkt PID som det er identifisert en genetisk årsak til
Tidsramme: Gjennom studiegjennomføring, gjennomsnittlig 3 år
|
Antall pasienter med mistanke om primær immunsvikt inkludert i studien som kan stilles en diagnose med genetiske og funksjonelle data innhentet fra pasienter, deres pårørende og friske frivillige.
|
Gjennom studiegjennomføring, gjennomsnittlig 3 år
|
Samarbeidspartnere og etterforskere
Det er her du vil finne personer og organisasjoner som er involvert i denne studien.
Etterforskere
- Hovedetterforsker: Jana M Pachlopnik Schmid, MD PhD, University Children's Hospital, Zurich
Publikasjoner og nyttige lenker
Den som er ansvarlig for å legge inn informasjon om studien leverer frivillig disse publikasjonene. Disse kan handle om alt relatert til studiet.
Generelle publikasjoner
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathebras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarstrom L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S. Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase delta Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase delta Syndrome Registry. Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Mozun R, Belle FN, Agostini A, Baumgartner MR, Fellay J, Forrest CB, Froese DS, Giannoni E, Goetze S, Hofmann K, Latzin P, Lauener R, Martin Necker A, Ormond K, Pachlopnik Schmid J, Pedrioli PGA, Posfay-Barbe KM, Rauch A, M Schulzke S, Stocker M, Spycher BD, Vayena E, Welzel T, Zamboni N, Vogt JE, Schlapbach LJ, Bielicki JA, Kuehni CE; SwissPedHealth consortium. Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream. BMJ Open. 2024 Dec 26;14(12):e091884. doi: 10.1136/bmjopen-2024-091884.
- Lorenzini T, Malmstrom L, Sabet O, Milanesi S, Tintor D, Walser S, Koppen J, Soomann M, Hauri-Hohl M, Prader S, Doffinger R, Pachlopnik Schmid J. Case report: anti-IL-6 autoantibodies in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Front Immunol. 2025 Sep 4;16:1660161. doi: 10.3389/fimmu.2025.1660161. eCollection 2025.
- Milanesi S, Lorenzini T, Marchetti T, Tintor D, Planas R, Sabet O, Malmstrom L, Acharya S, Williams CD, Manning ZE, Roser JH, Ehler AC, Huber M, Prader S, Vavassori S, Dutmer CM, Abbott JK, Pachlopnik Schmid J. Variants in human CD48 lead to impaired T-cell immunity and increased inflammation. J Clin Invest. 2026 Apr 14:e191340. doi: 10.1172/JCI191340. Online ahead of print.
- 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.
- 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.
- 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.
Studierekorddatoer
Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.
Studer hoveddatoer
Studiestart (Faktiske)
1. februar 2016
Primær fullføring (Antatt)
1. juli 2027
Studiet fullført (Antatt)
1. desember 2027
Datoer for studieregistrering
Først innsendt
10. mars 2016
Først innsendt som oppfylte QC-kriteriene
7. april 2016
Først lagt ut (Antatt)
13. april 2016
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
14. mai 2026
Siste oppdatering sendt inn som oppfylte QC-kriteriene
11. mai 2026
Sist bekreftet
1. mai 2026
Mer informasjon
Begreper knyttet til denne studien
Ytterligere relevante MeSH-vilkår
- Genetiske sykdommer, medfødte
- Sykdommer i immunsystemet
- Medfødte, arvelige og neonatale sykdommer og abnormiteter
- Primære immunsviktsykdommer
- Immunologiske mangelsyndromer
- Undersøkelsesteknikker
- Prøvehåndtering
- Kliniske laboratorieteknikker
- Diagnostiske teknikker og prosedyrer
- Diagnose
- Punkteringer
- Kirurgiske prosedyrer, operativ
- Blodprøveinnsamling
Andre studie-ID-numre
- GSI KEK_2015-0555
Plan for individuelle deltakerdata (IPD)
Planlegger du å dele individuelle deltakerdata (IPD)?
JA
IPD-planbeskrivelse
planlagt publisering i fagfellevurderte tidsskrifter (PubMed)
Legemiddel- og utstyrsinformasjon, studiedokumenter
Studerer et amerikansk FDA-regulert medikamentprodukt
Nei
Studerer et amerikansk FDA-regulert enhetsprodukt
Nei
Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .