|Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)|
P Macchi, A Villa, S Giliani, MG Sacco, A Frattini, F Porta, AG Ugazio, ...
Nature 377 (6544), 65-68, 1995
|Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis|
A Frattini, PJ Orchard, C Sobacchi, S Giliani, M Abinun, JP Mattsson, ...
Nature genetics 25 (3), 343-346, 2000
|X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill …|
S Parolini, C Bottino, M Falco, R Augugliaro, S Giliani, R Franceschini, ...
The Journal of experimental medicine 192 (3), 337-346, 2000
|Partial V (D) J recombination activity leads to Omenn syndrome|
A Villa, S Santagata, F Bozzi, S Giliani, A Frattini, L Imberti, LB Gatta, ...
Cell 93 (5), 885-896, 1998
|Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM|
S Ferrari, S Giliani, A Insalaco, A Al-Ghonaium, AR Soresina, M Loubser, ...
Proceedings of the National Academy of Sciences 98 (22), 12614-12619, 2001
|Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation|
Y Jin, C Mazza, JR Christie, S Giliani, M Fiorini, P Mella, F Gandellini, ...
Blood 104 (13), 4010-4019, 2004
|Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency|
B Boisson, E Laplantine, C Prando, S Giliani, E Israelsson, Z Xu, ...
Nature immunology 13 (12), 1178-1186, 2012
|In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1)|
GS Wengler, A Lanfranchi, T Frusca, R Verardi, A Neva, D Brugnoni, ...
The Lancet 348 (9040), 1484-1487, 1996
|Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an …|
D Moratto, S Giliani, C Bonfim, E Mazzolari, A Fischer, HD Ochs, AJ Cant, ...
Blood, The Journal of the American Society of Hematology 118 (6), 1675-1684, 2011
|Structural and functional basis for JAK3-deficient severe combined immunodeficiency|
F Candotti, SA Oakes, JA Johnston, S Giliani, RF Schumacher, P Mella, ...
Blood, The Journal of the American Society of Hematology 90 (10), 3996-4003, 1997
|Interleukin‐7 receptor α (IL‐7Rα) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients|
S Giliani, L Mori, G De Saint Basile, F Le Deist, C Rodriguez‐Perez, ...
Immunological reviews 203 (1), 110-126, 2005
|Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect|
A Gismondi, L Cifaldi, C Mazza, S Giliani, S Parolini, S Morrone, ...
Blood 104 (2), 436-443, 2004
|Defective Expression of CD40 Ligand on T Cells Causes “X‐Linked Immunodeficiency with Hyper‐IgM (HIGM1)”|
RA Kroczek, D Graf, D Brugnoni, S Giliani, U Korthäuer, A Ugazio, ...
Immunological reviews 138 (1), 39-59, 1994
|A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy|
M Stefanini, W Vermeulen, G Weeda, S Giliani, T Nardo, M Mezzina, ...
American journal of human genetics 53 (4), 817, 1993
|CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome|
LD Notarangelo, MC Peitsch, TG Abrahamsen, C Bachelot, P Bordigoni, ...
Immunology today 17 (11), 511-516, 1996
|A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIPHuman WIP deficiency|
G Lanzi, D Moratto, D Vairo, S Masneri, O Delmonte, T Paganini, ...
The Journal of experimental medicine 209 (1), 29-34, 2012
|Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common γc cytokine receptor …|
C Laffort, F Le Deist, M Favre, S Caillat-Zucman, I Radford-Weiss, ...
The Lancet 363 (9426), 2051-2054, 2004
|Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy|
M Stefanini, P Lagomarsini, S Giliani, T Nardo, E Botta, A Peserico, ...
Carcinogenesis 14 (6), 1101-1105, 1993
|IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo|
M Recher, LJ Berglund, DT Avery, MJ Cowan, AR Gennery, J Smart, ...
Blood 118 (26), 6824-6835, 2011
|Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias|
R Chen, S Giliani, G Lanzi, GI Mias, S Lonardi, K Dobbs, J Manis, H Im, ...
Journal of allergy and clinical immunology 132 (3), 656-664. e17, 2013