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Items: 4

1.

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.

Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S.

J Exp Med. 2012 Jan 16;209(1):29-34. doi: 10.1084/jem.20110896. Epub 2012 Jan 9.

2.

Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency.

Rucci F, Poliani PL, Caraffi S, Paganini T, Fontana E, Giliani S, Alt FW, Notarangelo LD.

Front Immunol. 2011 May 10;2(15). pii: 00015.

3.

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.

Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD.

J Exp Med. 2010 Jul 5;207(7):1541-54. doi: 10.1084/jem.20091927. Epub 2010 Jun 14.

4.

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.

Rucci F, Notarangelo LD, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley KM, Detre C, Keszei M, Walter JE, Feldman L, Cheng HL, Poliani PL, Wang JH, Balter BB, Recher M, Andersson EM, Zha S, Giliani S, Terhorst C, Alt FW, Yan CT.

Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3024-9. doi: 10.1073/pnas.0914865107. Epub 2010 Feb 1.

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