NODOVOX | Discovery

Expanded Clinical Spectrum of Artemis SCID: A Novel DCLRE1C c.545G>A Variant with Residual T Cell Function

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Expanded Clinical Spectrum of Artemis SCID: A Novel DCLRE1C c.545G>A Variant with Residual T Cell Function

Nouf Faisal Alsaati et al · Rockefeller University Press · 2026 · ISSN 3065-8993

Artemis-deficient severe combined immunodeficiency (SCID) is a rare autosomal recessive disorder caused by pathogenic variants in DCLRE1C, which encodes ARTEMIS, a DNA repair endonuclease essential for V(D)J recombinatio...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Prospective Clinical Trial of Mycophenolate Mofetil (MMF) Duration De-Escalation in Allogeneic Hematopoietic Cell Transplantation (HCT) for Inborn Errors of Immunity: Is MMF Dispensable After Reduced Intensity Conditioning, Posttransplantation Cyclophosphamide(Ptcy)-Based HCT?

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Dimana Dimitrova et al · Rockefeller University Press · 2026 · ISSN 3065-8993

Hematopoietic cell transplantation (HCT) offers curative potential for inborn errors of immunity (IEI) patients, who often enter HCT with significant comorbidities and disease sequelae, active infections, and/or limited ...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Combined Immunodeficiency Manifests from S-Adenosylhomocysteine (SAH) Hydrolase Deficiency

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Combined Immunodeficiency Manifests from S-Adenosylhomocysteine (SAH) Hydrolase Deficiency

Ian Cohn et al · Rockefeller University Press · 2026 · ISSN 3065-8993

S-adenosylhomocysteine (SAH) hydrolase deficiency is a rare autosomal recessive disorder caused by pathogenic variants of the gene AHCY. Loss of SAH hydrolase causes SAH accumulation and impairs the methionine/S-adenosyl...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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XIAP Deficiency Caused by a Deletion in the Noncoding Exon 1 Identified by Chromosomal Microarray

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XIAP Deficiency Caused by a Deletion in the Noncoding Exon 1 Identified by Chromosomal Microarray

Sean Duke et al · Rockefeller University Press · 2026 · ISSN 3065-8993

X-linked inhibitor of apoptosis (XIAP) is essential for innate and adaptive immune responses, including programmed cell death inhibition, NFkB and MAPK activation, NLRP3 inflammasome activity regulation, and TNFR signali...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Development of a Quantitative Measure of Lung Disease Severity in STAT3 Hyper-Ige Syndrome

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Development of a Quantitative Measure of Lung Disease Severity in STAT3 Hyper-Ige Syndrome

Chen Wang et al · Rockefeller University Press · 2026 · ISSN 3065-8993

IntroductionProgressive lung disease remains the leading cause of morbidity and mortality in patients with STAT3 hyper-IgE syndrome (HIES), despite optimal supportive care. Forced expiratory volume in 1 second (FEV1) is ...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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