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Immunodeficiencies Unit

As seen in: Frontiers, Frontiers in Immunology, The Lancet, Pediatrics, The Journal of Pediatrics
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Articles

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain)

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By Immunodeficiencies Unit, José Manuel, González de Aledo-Castillo
| Frontiers in Immunology
Abstract Purpose: Severe combined immunodeficiency (SCID) can be detected at birth through T-cell receptor excision circles (TREC) analysis in dried blood spots. This study summarizes the results of the consolidated SCID newborn screening (NBS) program in Catalonia (Spain) during the first seven years of program implementation (2017–2023).
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Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging

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By Emilie Pauline Buddingh, Mary Slatter, Laura Garcia, Laura García Verified, Immunodeficiencies Unit
| tu-dresden.de
Germline gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) are associated with infections, including chronic mucocutaneous candidiasis and autoimmunity. Morbidity is high, and disease manifestations can be life-threatening. Curative allogeneic hematopoietic stem cell transplantation (HSCT) historically has had poor outcomes.
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Novel frameshift variants expand the map of the genetic defects in IRF2BP2

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By Paz Gandiaga, Minguell Domingo, Immunodeficiencies Unit, Ocejo Vinyals
| Frontiers
1 Introduction The IRF2BP (interferon regulatory factor-2 binding protein) family is composed of two members, IRF2BP1 and IRF2BP2, characterized by a C-terminal repression domain. These proteins have been reported to act as nuclear transcriptional corepressors that are activated during IRF2 binding, which induces a conformational change in the DNA binding domain and the C-terminal region of IRF2 (1).
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