Biblio
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome. Am J Hum Genet. 2024.
Defective neutrophil development and specific granule deficiency caused by a homozygous splice site mutation in SMARCD2. J Allergy Clin Immunol. 2020.
. Congenital nephrotic syndrome in IL7Rα-SCID - a rare feature of materno-foetal graft-versus-host disease. J Allergy Clin Immunol Pract. 2021.
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