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Frontiers in Immunology|July 18, 2018
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair DeficiencyVictoria K Tesch, Hanna IJspeert, Andrea Raicht, et al.Journal of Clinical Immunology|August 15, 2015
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective AnalysisBeata Wolska-Kuśnierz, Hanna Gregorek, Krystyna Chrzanowska, et al.Journal of Hematology & Oncology|August 16, 2022
Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German RegistryJudith Penkert, Farina J Strüwe, Christina M Dutzmann, et al.Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patientsGerhard Kindle, Mickaël Alligon, Michael H Albert, et al.Journal of Human Immunity|December 5, 2025
Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patientsGerhard Kindle, Mickaël Alligon, Michael H Albert, et al.Journal of Clinical Immunology|March 14, 2026
Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening ProgramLea Graafen, Carsten Speckmann, Shahrzad Bakhtiar, et al.Human Mutation|February 12, 2019
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytesRichard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, et al.Haematologica|July 16, 2013
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopeniaAnne Rensing-Ehl, Ales Janda, Myriam R Lorenz, et al.Haematologica|May 30, 2015
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesisSebastian Fn Bode, Sandra Ammann, Waleed Al-Herz, et al.The Journal of Allergy and Clinical Immunology|May 15, 2021
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunityMatthias Haimel, Julia Pazmandi, Raúl Jiménez Heredia, et al.Pageof 24