TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review

Por van der Spek, Jet, Groenwold, Rolf H. H., van der Burg, Mirjam, van Montfrans, Joris M.
Publicado no J Clin Immunol (2015)

Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4(+) T-cell help

Por Compeer, Ewoud B., Janssen, Willemijn, van Royen-Kerkhof, Annet, van Gijn, Marielle, van Montfrans, Joris M., Boes, Marianne
Publicado no Oncotarget (2015)

Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

Por Stasia, Marie J, Mollin, Michèle, Martel, Cécile, Satre, Véronique, Coutton, Charles, Amblard, Florence, Vieville, Gaëlle, van Montfrans, Joris M, Boelens, Jaap J, Veenstra-Knol, Hermine E, van Leeuwen, Karen, de Boer, Martin, Brion, Jean-Paul, Roos, Dirk
Publicado em 2013

CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia

Por van Montfrans, Joris M., Hoepelman, Andy I. M., Otto, Sigrid, van Gijn, Marielle, van de Corput, Lisette, de Weger, Roel A., Monaco-Shawver, Linda, Banerjee, Pinaki P., Sanders, Elisabeth A.M., Jol-van der Zijde, Cornelia M., Betts, Michael R., Orange, Jordan S., Bloem, Andries C., Tesselaar, Kiki
Publicado em 2011

B-cell development and functions and therapeutic options in adenosine deaminase–deficient patients

Por Brigida, Immacolata, Sauer, Aisha V., Ferrua, Francesca, Giannelli, Stefania, Scaramuzza, Samantha, Pistoia, Valentina, Castiello, Maria Carmina, Barendregt, Barbara H., Cicalese, Maria Pia, Casiraghi, Miriam, Brombin, Chiara, Puck, Jennifer, Müller, Klaus, Notarangelo, Lucia Dora, Montin, Davide, van Montfrans, Joris M., Roncarolo, Maria Grazia, Traggiai, Elisabetta, van Dongen, Jacques J. M., van der Burg, Mirjam, Aiuti, Alessandro
Publicado no J Allergy Clin Immunol (2014)

Embracing Complexity beyond Systems Medicine: A New Approach to Chronic Immune Disorders

Por te Velde, Anje A., Bezema, Tjitske, van Kampen, Antoine H. C., Kraneveld, Aletta D., 't Hart, Bert A., van Middendorp, Henriët, Hack, Erik C., van Montfrans, Joris M., Belzer, Clara, Jans-Beken, Lilian, Pieters, Raymond H., Knipping, Karen, Huber, Machteld, Boots, Annemieke M. H., Garssen, Johan, Radstake, Tim R., Evers, Andrea W. M., Prakken, Berent J., Joosten, Irma
Publicado no Front Immunol (2016)

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

Por Bode, Sebastian FN, Ammann, Sandra, Al-Herz, Waleed, Bataneant, Mihaela, Dvorak, Christopher C, Gehring, Stephan, Gennery, Andrew, Gilmour, Kimberly C, Gonzalez-Granado, Luis I, Groß-Wieltsch, Ute, Ifversen, Marianne, Lingman-Framme, Jenny, Matthes-Martin, Susanne, Mesters, Rolf, Meyts, Isabelle, van Montfrans, Joris M, Schmid, Jana Pachlopnik, Pai, Sung-Yun, Soler-Palacin, Pere, Schuermann, Uta, Schuster, Volker, Seidel, Markus G., Speckmann, Carsten, Stepensky, Polina, Sykora, Karl-Walter, Tesi, Bianca, Vraetz, Thomas, Waruiru, Catherine, Bryceson, Yenan T., Moshous, Despina, Lehmberg, Kai, Jordan, Michael B, Ehl, Stephan
Publicado no Haematologica (2015)

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Por van der Crabben, Saskia N., Hennus, Marije P., McGregor, Grant A., Ritter, Deborah I., Nagamani, Sandesh C.S., Wells, Owen S., Harakalova, Magdalena, Chinn, Ivan K., Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M., Terheggen-Lagro, Suzanne W., van Lieshout, Stef, van Roosmalen, Markus J., Renkens, Ivo, Duran, Karen, Nijman, Isaac J., Kloosterman, Wigard P., Hennekam, Eric, Orange, Jordan S., van Hasselt, Peter M., Wheeler, David A., Palecek, Jan J., Lehmann, Alan R., Oliver, Antony W., Pearl, Laurence H., Plon, Sharon E., Murray, Johanne M., van Haaften, Gijs
Publicado no J Clin Invest (2016)