Michael Loubser

Mutations of <i>CD40</i> gene cause an autosomal recessive form of immunodeficiency with hyper IgM

Simona Ferrari, Silvia Giliani, Antonella Insalaco et al. · Proceedings of the National Academy of Sciences · 2001 · 377 citations · Full text

Life Sciences, Genetics, Immunology +16

Inherited Interleukin-12 Deficiency: IL12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds

Capucine Pïcard, Claire Fieschi, Frédéric Altare et al. · The American Journal of Human Genetics · 2002 · 279 citations · Full text

Life Sciences, Immunology, Clinical Immunology +11

Adenosine deaminase deficiency with mosaicism for a “second-site suppressor” of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy

Francisco X. Arredondo-Vega, Inés Santisteban, Eva Richard et al. · Blood · 2002 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA

Inés Santisteban, F X Arredondo-Vega, S Kelly et al. · Human Molecular Genetics · 1995 · 62 citations

Life Sciences, Genetics, Molecular Genetics +15

Immune function in patients with β thalassaemia receiving the orally active iron‐chelating agent deferiprone

Ronen Loebstein, Ilan Dalal, Eric Nisbet‐Brown et al. · British Journal of Haematology · 1997 · 17 citations

Medicine, Immunology, Pharmacology +17