Associated Papers
Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency.
Roppelt A et al.
Frontiers in Immunology, 2024
A homozygous missense variant in PTPN2 with early-onset Crohn's disease, growth failure and dysmorphic features in an infant: a case report.
Awwad J et al.
Journal of Genetics, 2023
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED et al.
Nature, 2020
32499645 (PubMed )
Supplement: EMS85907-supplement-Supplementary_Information.pdf
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