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000285629 037__ $$aDZNE-2026-00268
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000285629 1001_ $$aGraafen, Lea$$b0
000285629 245__ $$aFOXN1 immunodeficiency detected by TREC-based newborn screening - A challenge of management?
000285629 260__ $$aAmsterdam [u.a.]$$bElsevier Science$$c2026
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000285629 520__ $$aIncomplete 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.
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000285629 650_7 $$2Other$$aFOXN1
000285629 650_7 $$2Other$$aNude SCID
000285629 650_7 $$2Other$$aSCID
000285629 650_7 $$2Other$$aTREC-NBS
000285629 650_7 $$2Other$$aThymic deficiency
000285629 650_7 $$2Other$$ascRNA-seq
000285629 650_7 $$2NLM Chemicals$$aForkhead Transcription Factors
000285629 650_7 $$2NLM Chemicals$$aWhn protein
000285629 650_2 $$2MeSH$$aHumans
000285629 650_2 $$2MeSH$$aInfant, Newborn
000285629 650_2 $$2MeSH$$aDisease Management
000285629 650_2 $$2MeSH$$aForkhead Transcription Factors: genetics
000285629 650_2 $$2MeSH$$aForkhead Transcription Factors: deficiency
000285629 650_2 $$2MeSH$$aGenetic Association Studies
000285629 650_2 $$2MeSH$$aImmunologic Deficiency Syndromes: diagnosis
000285629 650_2 $$2MeSH$$aImmunologic Deficiency Syndromes: genetics
000285629 650_2 $$2MeSH$$aImmunophenotyping
000285629 650_2 $$2MeSH$$aMutation
000285629 650_2 $$2MeSH$$aNeonatal Screening: methods
000285629 650_2 $$2MeSH$$aSevere Combined Immunodeficiency: diagnosis
000285629 650_2 $$2MeSH$$aSevere Combined Immunodeficiency: genetics
000285629 650_2 $$2MeSH$$aT-Lymphocytes: immunology
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000285629 7001_ $$aBorkhardt, Arndt$$b1
000285629 7001_ $$aReiß, Julian$$b2
000285629 7001_ $$aSoura, Stavrieta$$b3
000285629 7001_ $$aLaws, Hans-Jürgen$$b4
000285629 7001_ $$aUhrberg, Markus$$b5
000285629 7001_ $$0P:(DE-2719)9002116$$aPaulusch, Stefan$$b6$$udzne
000285629 7001_ $$0P:(DE-2719)9000846$$aDe Domenico, Elena$$b7$$udzne
000285629 7001_ $$0P:(DE-2719)2812219$$aBeyer, Marc D$$b8$$udzne
000285629 7001_ $$aBennstein, Sabrina B$$b9
000285629 7001_ $$aGhosh, Sujal$$b10
000285629 773__ $$0PERI:(DE-600)2013171-9$$a10.1016/j.imlet.2026.107142$$gVol. 279, p. 107142 -$$p107142$$tImmunology letters$$v279$$x0165-2478$$y2026
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