Publications by authors named "Jana Pachlopnik Schmid"

42Publications

Obesity-Induced Increase in Cystatin C Alleviates Tissue Inflammation.

Diabetes 2020 Sep 2;69(9):1927-1935. Epub 2020 Jul 2.

Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2337/db19-1206DOI Listing
September 2020

Morbus Mucha-Habermann unter dem Bild eines Kawasaki-Syndroms.

J Dtsch Dermatol Ges 2020 Feb;18(2):140-142

Universitäts-Kinderspital Zürich, Fachbereich pädiatrische Dermatologie, Zürich, Schweiz.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ddg.13989_gDOI Listing
February 2020

Febrile ulceronecrotic Mucha-Habermann disease mimicking Kawasaki disease.

J Dtsch Dermatol Ges 2020 Feb 9;18(2):140-142. Epub 2019 Dec 9.

University Children's Hospital Zurich, Division of Pediatric Dermatology, Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ddg.13989DOI Listing
February 2020

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

Clin Immunol 2020 01 23;210:108316. Epub 2019 Nov 23.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; CIBSS - Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2019.108316DOI Listing
January 2020

Recurrent inflammatory disease caused by a heterozygous mutation in CD48.

J Allergy Clin Immunol 2019 11 13;144(5):1441-1445.e17. Epub 2019 Aug 13.

Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland; University of Zurich, Zurich, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2019.07.038DOI Listing
November 2019

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

J Allergy Clin Immunol Pract 2019 03 28;7(3):856-863. Epub 2018 Aug 28.

Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2018.07.046DOI Listing
March 2019

Allogeneic hematopoietic cell transplantation in patients with GATA2 deficiency-a case report and comprehensive review of the literature.

Ann Hematol 2018 Oct 13;97(10):1961-1973. Epub 2018 Jun 13.

Division of Hematology, University and University Hospital Zurich, Raemistrasse 100, CH-8091, Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00277-018-3388-4DOI Listing
October 2018

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

J Allergy Clin Immunol 2019 01 14;143(1):292-304.e8. Epub 2018 Jun 14.

Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland; Pediatric Immunology, University of Zurich, Zurich, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2018.02.057DOI Listing
January 2019

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

J Allergy Clin Immunol 2018 12 4;142(6):1932-1946. Epub 2018 May 4.

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2018.02.055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215742PMC
December 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.

Front Immunol 2018 16;9:543. Epub 2018 Mar 16.

Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://journal.frontiersin.org/article/10.3389/fimmu.2018.00
Publisher Site
http://dx.doi.org/10.3389/fimmu.2018.00543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863269PMC
May 2019

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. Epub 2017 Mar 27.

Division of Immunology, University Children's Hospital Zurich, Children's Research Center (CRC), Zurich, Switzerland; University of Zurich, Zurich, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2017.02.009DOI Listing
June 2019

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.

J Allergy Clin Immunol 2014 Dec 28;134(6):1354-1364.e6. Epub 2014 Aug 28.

INSERM, Unité U1163, Laboratoire Homéostasie normale et pathologique du système immunitaire, Hôpital Necker Enfants-Malades, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Unité d'Immunologie et Hématologie Pédiatrique, Assistance Publique-Hôpitaux de Paris, Hôpital Necker Enfants-Malades, Paris, France; Centre d'Etudes des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2014.07.019DOI Listing
December 2014

Modern management of primary T-cell immunodeficiencies.

Pediatr Allergy Immunol 2014 Jun 3;25(4):300-13. Epub 2014 Jan 3.

Division of Immunology, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pai.12179DOI Listing
June 2014

Inherited defects in lymphocyte cytotoxic activity.

Immunol Rev 2010 May;235(1):10-23

Institut National de la Santé et de la Recherche Médicale (INSERM), U768, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.0105-2896.2010.00890.xDOI Listing
May 2010

Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice.

EMBO Mol Med 2009 May;1(2):112-24

Institut National de la Santé et de la Recherche Médicale, Unité U768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/emmm.200900009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378118PMC
May 2009

A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH).

Eur J Immunol 2008 Nov;38(11):3219-25

Institut National de la Santé et de la Recherche Médicale U768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/eji.200838488DOI Listing
November 2008