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IEI Subphenotype Recognition Using Unsupervised Machine Learning on a National IEI Cohort with Clinical Validation

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IEI Subphenotype Recognition Using Unsupervised Machine Learning on a National IEI Cohort with Clinical Validation

Alexandra Martinson et al · Rockefeller University Press · 2026 · ISSN 3065-8993

Inborn errors of immunity (IEI) are increasing in number, and prompt recognition and diagnosis remain a challenge for clinicians. Use of machine learning (ML) for clinical pattern recognition is promising but has been li...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Novel Pathogenic Variant in IL2RG Affecting the Signal Peptide Results in mRNA Instability, Decreased IL2RG Expression, and Atypical Late-Onset Immunodeficiency

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Novel Pathogenic Variant in IL2RG Affecting the Signal Peptide Results in mRNA Instability, Decreased IL2RG Expression, and Atypical Late-Onset Immunodeficiency

Muslima Hussain et al · Rockefeller University Press · 2026 · ISSN 3065-8993

X-linked severe combined immunodeficiency (SCID-X1) presents as T-B+NK- SCID, due to mutations in the common γ chain (IL2RG/CD132), a shared component of several cytokine receptors. Without definitive therapy, SCID-X1 i...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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