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List of works by Jana Pachlopnik Schmid

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 Coll

scientific article published on 28 August 2015

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

scientific article

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

scientific article published on 30 November 2010

Inherited defects in lymphocyte cytotoxic activity

scientific article published on May 2010

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

scientific article published on 14 December 2011

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

scientific article

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

scientific article

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

scientific article published on 10 May 2017

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

scientific article

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

scientific article published on 28 May 2015

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

scientific article

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