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DNA repair defect
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hematopoietic stem cell transplantation
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phenotype
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primary immunodeficiency
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Seidel, M.G.
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Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency
Curation and expansion of human phenotype ontology for defined groups of inborn errors of immunity
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency
No clinical signs of Hyper-IgM or other relevant primary immunodeficiency syndrome in novel patients with constitutional mismatch repair deficiency (CMMRD)
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study