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@ARTICLE{Graafen:285629,
      author       = {Graafen, Lea and Borkhardt, Arndt and Reiß, Julian and
                      Soura, Stavrieta and Laws, Hans-Jürgen and Uhrberg, Markus
                      and Paulusch, Stefan and De Domenico, Elena and Beyer, Marc
                      D and Bennstein, Sabrina B and Ghosh, Sujal},
      title        = {{FOXN}1 immunodeficiency detected by {TREC}-based newborn
                      screening - {A} challenge of management?},
      journal      = {Immunology letters},
      volume       = {279},
      issn         = {0165-2478},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier Science},
      reportid     = {DZNE-2026-00268},
      pages        = {107142},
      year         = {2026},
      abstract     = {Incomplete genotype-phenotype correlations challenge the
                      management of non-SCID FOXN1 immunodeficiency. We describe
                      the detailed clinical course of three distinct newborns with
                      four novel FOXN1 mutations identified by TRECNBS. For
                      comprehensive immune characterization advanced flow
                      cytometry-based immunophenotyping was employed alongside
                      high-resolution single-cell RNA sequencing. In our cohort,
                      we detected heterozygous FOXN1 mutations in P1 (c.1178delG;
                      p.Gly393Alafs*157) and P2 (c.830+1G>T; p.?), and compound
                      heterozygous FOXN1-mutations in P3 (c.1318C>T; p.Gln440* and
                      c.668T>G; p.?). Despite slow and partial recovery from
                      T-cell lymphocytopenia in P3, clinical signs for classical
                      'nude SCID` were incomplete. Compared to a healthy cord
                      blood control, a distinct B-cell population was identified
                      in the FOXN1-deficient patients expressing immature B-cell
                      markers and lower HLA-II mRNA levels. In summary, our cohort
                      of three newborns with four novel FOXN1 variants highlights
                      heterogeneous immunological courses and broader thymic
                      dysfunction implications in this rare disease. Structured
                      management strategies are essential for those identified by
                      NBS-programs.},
      keywords     = {Humans / Infant, Newborn / Disease Management / Forkhead
                      Transcription Factors: genetics / Forkhead Transcription
                      Factors: deficiency / Genetic Association Studies /
                      Immunologic Deficiency Syndromes: diagnosis / Immunologic
                      Deficiency Syndromes: genetics / Immunophenotyping /
                      Mutation / Neonatal Screening: methods / Severe Combined
                      Immunodeficiency: diagnosis / Severe Combined
                      Immunodeficiency: genetics / T-Lymphocytes: immunology /
                      FOXN1 (Other) / Nude SCID (Other) / SCID (Other) / TREC-NBS
                      (Other) / Thymic deficiency (Other) / scRNA-seq (Other) /
                      Forkhead Transcription Factors (NLM Chemicals) / Whn protein
                      (NLM Chemicals)},
      cin          = {AG Schultze / AG Beyer / PRECISE},
      ddc          = {610},
      cid          = {I:(DE-2719)1013038 / I:(DE-2719)1013035 /
                      I:(DE-2719)1013031},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354) / 351
                      - Brain Function (POF4-351) / 352 - Disease Mechanisms
                      (POF4-352)},
      pid          = {G:(DE-HGF)POF4-354 / G:(DE-HGF)POF4-351 /
                      G:(DE-HGF)POF4-352},
      experiment   = {EXP:(DE-2719)PRECISE-20190321},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41610918},
      doi          = {10.1016/j.imlet.2026.107142},
      url          = {https://pub.dzne.de/record/285629},
}