Author

L. Notarangelo

2 papers indexed here

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Open access Sep 2026

Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation.

BACKGROUND Approximately 10% of patients with Severe Combined Immunodeficiency (SCID) phenotype lack a known genetic cause. In particular, the molecular basis of thymic defects is poorly understood. Homeobox (HOX) genes encode conserved transcription factors that control spatial body development. The function of human...

Sarah S. Dinges, M. Bosticardo, Anke Hirschfelder et al. · Journal of Allergy and Clini... · 0 citations

Review Open access Sep 2026

Prevalence and predictors of bronchiectasis in children and adults with inborn errors of immunity: protocol for a systematic review and meta-analysis

A systematic review of the prevalence and predictors of bronchiectasis among children and adults with IEI globally to provide robust, contemporary, and comprehensive estimates of bronchiectasis prevalence and predictors.

D. Marangu-Boore, M. Maina, Alicia A. Livinski et al. · Systematic Reviews · 0 citations