top of page

Pachlopnik Lab.

Understanding
Primary Immunodeficiencies
UZHlogo.png
Kispi-logo---BV (1).jpg
Kinderspital_Forschungszentrum_DE_RGB_edited.jpg
LifeScience_graduate_logo.jpg

ABOUT.

Our lab focuses on inborn errors of the immune system and their consequences on health - often an increased susceptibility to infections or an immune dysregulation. Many severe forms of immune defects affect babies and children when coming into first contact with pathogens. Treatment of patients is very dependent on the type of immune defect. We focus on patients, in whom routine diagnosis does not find the cause of the disease or  disease cause is not well understood.

We have established a joint genomic and transcriptomic workflow, combined with thorough functional and phenotypical examinations of leukocytes and fibroblasts from patients with extreme immunological phenotypes. Analyses of these datasets in combination with functional validation in animal models enabled us to identify novel diseases to better characterize pathomechanisms of known inborn error of immunity and to apply targeted treatments.

About
Research

OUR RESEARCH.

We are interested in studying disease mechanisms.

Our goal is to broaden the knowledge of human immunology and improve treatment for patients with immune diseases.

Research 2

OUR TEAM.

Principal Investigator

  • Pubmed_edited
  • Google_Scholar_edited_edited
  • ResearchGate_edited
Jana Pachlopnik Schmid
Prof MD PhD

Post-Doc

Samantha Milanesi
 
PhD

Senior Research

Scientist

Ola
Sabet

 
PhD
Lars
Malmström

PhD

Bioinformatitian

Lars
Malmström

PhD

Bioinformatician

  • Pubmed_edited
  • Google_Scholar_edited_edited
Lennart
Opitz
MSc

PhD Student

PhD Student

PhD Student

Diana
Tintor


MSc

Lab Manager

Sonja
Brun

Study Nurse

Sonja
Brun
Katri
Eskola

Study Nurse

Katri
Eskola
Seraina
Prader
MD

Medical Doctor

Seraina
Prader

MD
Esther
Gujer

MMed Student

Esther
Gujer
Michael
Killian

MMed Student

Michael
Killian
Team
Team 2
Team 3
Team 4
Events

LATEST PUBLICATIONS.

2024

COVID-19 Vaccine Acceptance Among Parents of Children With Multisystem Inflammatory Syndrome in Children

Blanchard-Rohner G, Sanchez C, Andre MC, Bressieux-Degueldre S, Grazioli S, Perez MH, Wütz D, Schöbi N, Welzel T, Atkinson A, Schlapbach LJ, Bielicki JA, Trück J

Pediatr Infect Dis J

2024

Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation

Böhm S, Wustrau K, Pachlopnik Schmid J, Prader S, Ahlmann M, Yacobovich J, Beier R, Speckmann C, Behnisch W, Ifversen M, Jordan M, Marsh R, Naumann-Bartsch N, Mauz-Körholz C, Hönig M, Schulz A, Malinowska I, Hines M, Nichols KE, Gil-Herrera J, Talano JA, Crooks B, Formankova R, Jorch N, Bakhtiar S, Kühnle I, Streiter M, Nathrath M, Russo A, Dürken M, Lang P, Lindemans C, Henter JI, Lehmberg K, Ehl S

Blood

2024

Fevers and ulcers in a newborn-Think genetics and act quickly

Soomann M, Gilmour K, Güngör T, Pachlopnik Schmid J, Spyropoulou V, Trück J, Prader S

Pediatr Allergy Immunol

2024

Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S

Lancet Haematol

2024

Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening

Soomann M, Prader S, Pinto Monteiro A, Zeilhofer U, Hauri-Hohl M, Güngör T, Pachlopnik Schmid J, Trück J, Felber M

Journal of Clinical Immunology

2023

Methylprednisolone versus intravenous immunoglobulins in children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS): an open-label, multicentre, randomised trial.

Welzel T, Atkinson A, Schöbi N, Andre MC, Bailey DGN, Blanchard-Rohner G, Buettcher M, Grazioli S, Koehler H, Perez MH, Trück J, Vanoni F, Zimmermann P, Sanchez C, Bielicki JA, Schlapbach LJ

Lancet Child Adolesc Health

2023

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.

García-García A, Pérez de Diego R, Flores C, Rinchai D, Solé-Violán J, Deyà-Martínez À, García-Solis B, Lorenzo-Salazar JM, Hernández-Brito E, Lanz AL, Moens L, Bucciol G, Almuqamam M, Domachowske JB, Colino E, Santos-Perez JL, Marco FM, Pignata C, Bousfiha A, Turvey SE, Bauer S, Haerynck F, Ocejo-Vinyals JG, Lendinez F, Prader S, Naumann-Bartsch N, Pachlopnik Schmid J, Biggs CM, Hildebrand K, Dreesman A, Cárdenes MÁ, Ailal F, Benhsaien I, Giardino G, Molina-Fuentes A, Fortuny C, Madhavarapu S, Conway DH, Prando C, Schidlowski L, Martínez de Saavedra Álvarez MT, Alfaro R, Rodríguez de Castro F; ESID Registry Working Party; COVID Human Genetic Effort; Meyts I, Hauck F, Puel A, Bastard P, Boisson B, Jouanguy E, Abel L, Cobat A, Zhang Q, Casanova JL, Alsina L, Rodríguez-Gallego C

Journal of Experimental Medicine

2023

The hyperinflammatory spectrum: from defects in cytotoxicity to cytokine control

Planas R, Felber M, Vavassori S, Pachlopnik Schmid J

Frontiers of Immunology

2023

STAT3 GOF Working Group members; Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A

Journal of Allergy and Clinical Immunology

2023

Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study.

Channon-Wells S, Vito O, McArdle AJ, Seaby EG, Patel H, Shah P, Pazukhina E, Wilson C, Broderick C, D'Souza G, Keren I, Nijman RG, Tremoulet A, Munblit D, Ulloa-Gutierrez R, Carter MJ, Ramnarayan P, De T, Hoggart C, Whittaker E, Herberg JA, Kaforou M, Cunnington AJ, Blyuss O, Levin M

Lancet Rheumatology

2023

Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening.

Soomann M, Prader S, Pachlopnik Schmid J, Güngör T, Trück J

J Clin Immunol

2022

Cutaneous manifestations of monogenic auto-inflammatory diseases: An international cohort study from the Juvenile Inflammatory Rheumatism cohort.

Monfort JB, Deshayes S, Dusser P, Bourguiba R, Savey L, Vinit C, Koné-Paut I, Amaryan G, Theodoropoulou K, Guedri R, Pachlopnik J, Belot A, Melki I, Perveen Maldar N; JIR cohort investigators; Hentgen V, Georgin-Lavialle S

Journal of the American Academy of Dermatology

2022

Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1.

Engelmann C, Schuhmachers P, Zdimerova H, Virdi S, Hauri-Hohl M, Pachlopnik Schmid J, Grundhoff A, Marsh RA, Wong WW, Münz C

Cell Death & Disease

2022

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome

Trachsel T, Prader S, Steindl K, Pachlopnik Schmid J.

Frontiers in Immunology

2022

Incidental splenomegaly in a teenager.

Baghin V, Prader S, Sirin S, Pachlopnik Schmid J, Trück J

Arch Dis Child Educ Pract Ed

2021

Immunological Assessment of Pediatric Multisystem Inflammatory Syndrome Related to Coronavirus Disease 2019

Grazioli, Serge; Tavaglione, Fedora; Torriani, Giulia; Wagner, Noemie; Rohr, Marie; L’Huillier, Arnaud G; Leclercq, Charlotte; Perrin, Anne; Bordessoule, Alice; Beghetti, Maurice; Pachlopnik Schmid, Jana; Vavassori, Stefano; Perreau, Matthieu; Eberhardt, Christiane; Didierlaurent, Arnaud; Kaiser, Laurent; Eckerle, Isabella; Roux-Lombard, Pascale; Blanchard-Rohner, Geraldine

Journal of the Pediatric Infectious Diseases Society

2021

Thrombotic Microangiopathy Associated with Macrophage Activation Syndrome: A Multinational Study of 23 Patients

Minoia, Francesca; Tibaldi, Jessica; Muratore, Valentina; Gallizzi, Romina; Bracaglia, Claudia; Arduini, Alessia; Comak, Elif; Vougiouka, Olga; Trauzeddel, Ralf; Filocamo, Giovanni; Mastrangelo, Antonio; Micalizzi, Concetta; Kasapcopur, Ozgur; Unsal, Erbil; Kitoh, Toshiyuki; Tsitsami, Elena; Kostik, Mikhail; Schmid, Jana Pachlopnik; Prader, Seraina; Laube, Guido; Maritsi, Despoina; Jelusic, Marija; Shenoi, Susan; Vastert, Sebastiaan; Ardissino, Gianluigi; Cron, Randy Q; Ravelli, Angelo

Journal of Pediatrics

2021

X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children—A Case Report

Prader, Seraina; Ritz, Nicole; Baleydier, Frédéric; Andre, Maya C; Stähli, Noémie; Schmid, Kevin; Schmid, Hanna; Woerner, Andreas; Diesch, Tamara; Meyer Sauteur, Patrick M; Trück, Johannes; Gebistorf, Fabienne; Opitz, Lennart; Killian, Michael P; Marchetti, Tommaso; Vavassori, Stefano; Blanchard-Rohner, Géraldine; Mc Lin, Valerie; Grazioli, Serge; Pachlopnik Schmid, Jana

Frontiers in Pediatrics

2021

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J; Prader, Seraina; Gao, Xianfei; Schuch, Luise A; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Brotschi, Barbara; Laube, Guido; Güngör, Tayfun; Kottke, Raimund; Weber, Achim; Griese, Matthias; Pachlopnik Schmid, Jana; et al

Journal of Allergy and Clinical Immunology

2021

Whole-exome sequencing of T-B+ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants

El Hawary, R; Meshaal, S; Mauracher, Andrea A; Opitz, Lennart; Abd Elaziz, D; Lotfy, S; Eldash, A; Boutros, J; Galal, N; Pachlopnik Schmid, J; Elmarsafy, A

Clinical and Experimental Immunology

2021

Patterns of Immune Dysregulation in Primary Immunodeficiencies: A Systematic Review

Mauracher AA, Gujer E, Bachmann LM, Güsewell S, Pachlopnik Schmid J.

The Journal of Allergy and Clinical Immunology. In Practice.

2020

Obesity-Induced Increase in Cystatin C Alleviates Tissue Inflammation

Dedual, Mara A; Wueest, Stephan; Challa, Tenagne D; Lucchini, Fabrizio C; Aeppli, Tim R J; Borsigova, Marcela; Mauracher, Andrea A; Vavassori, Stefano; Pachlopnik Schmid, Jana; Blüher, Matthias; Konrad, Daniel

Diabetes

2020

Maturation of the Human Immunoglobulin Heavy Chain Repertoire With Age.

Ghraichy, Marie; Galson, Jacob D; Kovaltsuk, Aleksandr; von Niederhäusern, Valentin; Pachlopnik Schmid, Jana; Recher, Mike; Jauch, Annaïse J; Miho, Enkelejda; Kelly, Dominic F; Deane, Charlotte M; Trück, Johannes

Frontiers in Immunology

2020

Treatment and management of primary antibody deficiency: German interdisciplinary evidence based consensus guideline

Hanitsch, Leif; Baumann, Ulrich; Boztug, Kaan; Burkhard-Meier, Ulrike; Fasshauer, Maria; Habermehl, Pirmin; Hauck, Fabian; Klock, Gerd; Liese, Johannes; Meyer, Oliver; Müller, Rainer; Pachlopnik-Schmid, Jana; Pfeiffer‐Kascha, Dorothea; Warnatz, Klaus; Wehr, Claudia; Wittke, Kirsten; Niehues, Tim; Bernuth, Horst

European Journal of Immunology

2020

Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay – management recommendations

Trück, Johannes; Prader, Seraina; Natalucci, Giancarlo; Hagmann, Cornelia; Brotschi, Barbara; Kelly, Janet; Bassler, Dirk; Steindl, Katharina; Rauch, Anita; Baumgartner, Matthias; Fingerhut, Ralph; Hauri-Hohl, Mathias; Güngör, Tayfun; Pachlopnik Schmid, Jana; Berger, Christoph; Reichenbach, Janine

Swiss Medical Weekly

2020

Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis

Felber, Matthias; Steward, Colin G; Kentouche, Karim; Fasth, Anders; Wynn, Robert F; Zeilhofer, Ulrike; Haunerdinger, Veronika; Volkmer, Benjamin; Prader, Seraina; Gruhn, Bernd; Ehl, Stephan; Lehmberg, Kai; Müller, Daniel; Gennery, Andrew R; Albert, Michael H; Hauck, Fabian; Rao, Kanchan; Veys, Paul; Hassan, Moustapha; Lankester, Arjan C; Pachlopnik Schmid, Jana; Hauri-Hohl, Mathias M; Güngör, Tayfun

Blood advances

2020

Erythropoiesis defect observed in STAT3 GOF patients with severe anemia

Mauracher AA, Eekels JJM, Woytschak J, van Drogen A, Bosch A, Prader S, Felber M, Heeg M, Opitz L, Trück 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.

The Journal of Allergy and Clinical Immunology

2020

Abdominal compartment syndrome and decompressive laparotomy in children: a 9-year single-center experience

di Natale, Anthony; Moehrlen, Ueli; Neeser, Hannah Rachel; Zweifel, Noëmi; Meuli, Martin; Mauracher, Andrea Alexis; Brotschi, Barbara; Tharakan, Sasha Job

Pediatric Surgery International

2020

Febrile ulceronecrotic Mucha-Habermann disease mimicking Kawasaki disease

Weins, Andreas Benedikt; Theiler, Martin; Bogatu, Bettina; Kerl, Karin; Pleimes, Marc; Pachlopnik Schmid, Jana; Weibel, Lisa

JDDG - Journal der Deutschen Dermatologischen Gesellschaft

2019

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity

Jägle, Sabine; Heeg, Maximilian; Grün, Sarah; et al; Mauracher, Andrea; Pachlopnik Schmid, Jana

Clinical Immunology

2019

Recurrent inflammatory disease caused by a heterozygous mutation in CD48

Volkmer, Benjamin; Planas, Raquel; Gossweiler, Emanuel; Lünemann, Anna; Opitz, Lennart; Mauracher, Andrea; Nüesch, Ursina; Gayden, Tenzin; Kaiser, Daniela; Drexel, Barbara; Dumrese, Claudia; Jabado, Nada; Vavassori, Stefano; Pachlopnik Schmid, Jana

Journal of Allergy and Clinical Immunology

2019

MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes

El Hawary, Rabab E; Mauracher, Andrea A; Meshaal, Safa S; Eldash, Alia; Abd Elaziz, Dalia S; Alkady, Radwa; Lotfy, Sohilla; Opitz, Lennart; Galal, Nermeen M; Boutros, Jeannette A; Pachlopnik Schmid, Jana; Elmarsafy, Aisha M

Journal of Allergy and Clinical Immunology

2019

Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes

Nüesch, Ursina; Mauracher, Andrea A; Opitz, Lennart; Volkmer, Benjamin; Michalak-Mićka, Katarzyna; Kamarashev, Jivko; Hartwig, Tom; Reichmann, Ernst; Becher, Burkhard; Vavassori, Stefano; Pachlopnik Schmid, Jana

Journal of Allergy and Clinical Immunology

2019

Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population

Meshaal, S S; El Hawary, R E; Abd Elaziz, D S; Eldash, A; Alkady, R; Lotfy, S; Mauracher, Andrea A; Opitz, Lennart; Pachlopnik Schmid, Jana; van der Burg, M; Chou, J; Galal, N M; Boutros, J A; Geha, R; Elmarsafy, A M

Clinical and Experimental Immunology

2018

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

Schwab, Charlotte; Gabrysch, Annemarie; Olbrich, Peter; et al; Pachlopnik Schmid, Jana; Kolios, Antonios

Journal of Allergy and Clinical Immunology

2018

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

Maccari, Maria Elena; Abolhassani, Hassan; Aghamohammadi, Asghar; et al; Pachlopnik Schmid, Jana; Prader, Sereina; Reichenbach, Janine; et al

Frontiers in Immunology

2018

Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes

Prader, Seraina; Felber, Matthias; Volkmer, Benjamin; Trück, Johannes; Schwieger-Briel, Agnes; Theiler, Martin; Weibel, Lisa; Hambleton, Sophie; Seipel, Katja; Vavassori, Stefano; Pachlopnik Schmid, Jana

Frontiers in Immunology

2018

Classification, clinical manifestation and diagnosis of HLH

Pachlopnik Schmid, Jana; Volkmer, Benjamin; Ehl, Stephan

Histiocytic Disorders

2018

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors

Giannelou, Angeliki; et al; Prader, Seraina; Pachlopnik Schmid, Jana

Annals of the Rheumatic Diseases

2018

Persistent mammalian orthoreovirus, coxsackievirus and adenovirus co-infection in a child with a primary immunodeficiency detected by metagenomic sequencing: a case report

Lewandowska, Dagmara W; Capaul, Riccarda; Prader, Seraina; Zagordi, Osvaldo; Geissberger, Fabienne-Desirée; Kügler, Martin; Knorr, Marcus; Berger, Christoph; Güngör, Tayfun; Reichenbach, Janine; Shah, Cyril; Böni, Jürg; Zbinden, Andrea; Trkola, Alexandra; Pachlopnik Schmid, Jana; Huber, Michael

BMC Infectious Diseases

2017

Causes of low neonatal T-cell receptor excision circles: A systematic review.

Mauracher, Andrea A; Pagliarulo, Fabio; Faes, Livia; Vavassori, Stefano; Güngör, Tayfun; Bachmann, Lucas M; Pachlopnik Schmid, Jana

The Journal of Allergy and Clinical Immunology: In Practice

2017

Modern management of phagocyte defects

Lanini, Lorenza Lisa Serena; Prader, Seraina; Siler, Ulrich; Reichenbach, Janine

Pediatric Allergy and Immunology

2017

Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.

Schepp, Johanna; Proietti, Michele; Frede, Natalie; Buchta, Mary; Hübscher, Katrin; Rojas Restrepo, Jessica; Goldacker, Sigune; Warnatz, Klaus; Pachlopnik Schmid, Jana; Duppenthaler, Andrea; Lougaris, Vassilios; Uriarte, Ignacio; Kelly, Susan; Hershfield, Michael; Grimbacher, Bodo

Arthritis and Rheumatology

2017

Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome

Vavassori, Stefano; Galson, Jacob D; Trück, Johannes; van den Berg, Anke; Tamminga, Rienk Y J; Magerus-Chatinet, Aude; Pellé, Olivier; Camenisch Gross, Ulrike; Marques Maggio, Ewerton; Prader, Seraina; Opitz, Lennart; Nüesch, Ursina; Mauracher, Andrea A; Volkmer, Benjamin; Speer, Oliver; Suda, Luzia; Röthlisberger, Benno; Zimmermann, Dieter Robert; Müller, Rouven; Diepstra, Arjan; Visser, Lydia; Haralambieva, Eugenia; Neven, Benedicte; Rieux-Laucat, Frédéric; Pachlopnik Schmid, Jana

Blood advances. In Practice

2017

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§

Marquardt, L; Lacour, M; Hoernes, M; Opitz, L; Lecca, R; Volkmer, B; Reichenbach, J; Hohl, D; Ansari, M; Ozsahin, H; Güngör, T; Pachlopnik Schmid, Jana

Journal of the European Academy of Dermatology and Venerology

Collaborations

COLLABORATIONS.

FUNDS.

Ederer.jpg
Screenshot 2020-05-12 at 16.14.40.png
Novartis_logo.png
Contact

HOW TO FIND US.

ADDRESS: AUGUST FOREL STRASSE 7, 8008 ZURICH, SWITZERLAND

TEL: +41 44 635 29 31  |  Immuno.Forschung@kispi.uzh.ch

  • Twitter
bottom of page