Jana Pachlopnik Schmid
Jana Pachlopnik Schmid
University of Zurich; University Children's Hospital Zurich, Switzerland
Bestätigte E-Mail-Adresse bei
Zitiert von
Zitiert von
2016 classification criteria for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a European League Against Rheumatism/American College of …
A Ravelli, F Minoia, S Davì, AC Horne, F Bovis, A Pistorio, M Aricò, ...
Arthritis & rheumatology 68 (3), 566-576, 2016
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects
C Schwab, A Gabrysch, P Olbrich, V Patiño, K Warnatz, D Wolff, ...
Journal of Allergy and Clinical Immunology 142 (6), 1932-1946, 2018
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)
JP Schmid, D Canioni, D Moshous, F Touzot, N Mahlaoui, F Hauck, ...
Blood, The Journal of the American Society of Hematology 117 (5), 1522-1529, 2011
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease
C Booth, KC Gilmour, P Veys, AR Gennery, MA Slatter, H Chapel, ...
Blood, The Journal of the American Society of Hematology 117 (1), 53-62, 2011
Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase δ syndrome: the european society for immunodeficiencies-activated phosphoinositide 3-kinase δ …
ME Maccari, H Abolhassani, A Aghamohammadi, A Aiuti, O Aleinikova, ...
Frontiers in immunology 9, 543, 2018
MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival
NT Nehme, JP Schmid, F Debeurme, I André-Schmutz, A Lim, P Nitschke, ...
Blood, The Journal of the American Society of Hematology 119 (15), 3458-3468, 2012
Neutralization of IFNγ defeats haemophagocytosis in LCMV‐infected perforin‐and Rab27a‐deficient mice
JP Schmid, CH Ho, F Chrétien, JM Lefebvre, G Pivert, M Kosco‐Vilbois, ...
EMBO molecular medicine 1 (2), 112-124, 2009
The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the Eurofever registry
NM Ter Haar, J Jeyaratnam, HJ Lachmann, A Simon, PA Brogan, ...
Arthritis & Rheumatology 68 (11), 2795-2805, 2016
Inherited defects in lymphocyte cytotoxic activity
JP Schmid, M Côte, MM Ménager, A Burgess, N Nehme, G Ménasché, ...
Immunological reviews 235 (1), 10-23, 2010
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
SFN Bode, S Ammann, W Al-Herz, M Bataneant, CC Dvorak, S Gehring, ...
Haematologica 100 (7), 978, 2015
Screening of 181 patients with antibody deficiency for deficiency of adenosine deaminase 2 sheds new light on the disease in adulthood
J Schepp, M Proietti, N Frede, M Buchta, K Hübscher, J Rojas Restrepo, ...
Arthritis & Rheumatology 69 (8), 1689-1700, 2017
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)
J Pachlopnik Schmid, R Lemoine, N Nehme, V Cormier-Daire, P Revy, ...
Journal of Experimental Medicine 209 (13), 2323-2330, 2012
Non-AIDS defining cancers in the D: A: D Study-time trends and predictors of survival: a cohort study
SW Worm, M Bower, P Reiss, F Bonnet, M Law, G Fätkenheuer, ...
BMC infectious diseases 13, 1-15, 2013
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
J Thalhammer, G Kindle, A Nieters, S Rusch, MRJ Seppänen, A Fischer, ...
Journal of Allergy and Clinical Immunology 148 (5), 1332-1341. e5, 2021
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations
C Miot, K Imai, C Imai, AJ Mancini, ZY Kucuk, T Kawai, R Nishikomori, ...
Blood, The Journal of the American Society of Hematology 130 (12), 1456-1467, 2017
Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11
FE Sepulveda, F Debeurme, G Ménasché, M Kurowska, M Côte, ...
Blood, The Journal of the American Society of Hematology 121 (4), 595-603, 2013
Conditional autoimmunity mediated by human natural anti‐FcεRIα autoantibodies?
MP Horn, JM Pachlopnik, M Vogel, M Dahinden, F Wurm, BM Stadler, ...
The FASEB Journal 15 (12), 2268-2274, 2001
Best practice recommendations for the diagnosis and management of children with pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS …
LJ Schlapbach, MC Andre, S Grazioli, N Schöbi, N Ritz, C Aebi, ...
Frontiers in pediatrics 9, 667507, 2021
Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis
A Ravelli, F Minoia, S Davì, AC Horne, F Bovis, A Pistorio, M Aricò, ...
RMD open 2 (1), e000161, 2016
Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
R Lemoine, J Pachlopnik-Schmid, HF Farin, A Bigorgne, M Debré, ...
Journal of allergy and clinical immunology 134 (6), 1354-1364. e6, 2014
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