Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14years old male

Partial V(D)J Recombination Activity Leads to Omenn Syndrome

Anna Villa, Sandro Santagata, Fabio Bozzi et al. · Cell · 1998 · 462 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Two Subsets of Naive T Helper Cells with Distinct T Cell Receptor Excision Circle Content in Human Adult Peripheral Blood

Sonja Kimmig, Grzegorz K. Przybylski, Christian Schmidt et al. · The Journal of Experimental Medicine · 2002 · 437 citations · Full text

Life Sciences, Cell Biology, Immunology +15

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

Anna Villa · Blood · 2001 · 346 citations · Full text

Life Sciences, Genetics, Immunology +17

Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening

Lucinda Brown, Jinhua Xu‐Bayford, Zoe Allwood et al. · Blood · 2011 · 244 citations

Medicine, Immunology, Pediatrics +16

An Immunodeficiency Disease with<i>RAG</i>Mutations and Granulomas

Catharina Schuetz, Kirsten Huck, Sonja Gudowius et al. · New England Journal of Medicine · 2008 · 218 citations

Life Sciences, Genetics, Immunology +17