Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition

Por Chaudhry, Mohammed S., Gilmour, Kimberly C., House, Imran G., Layton, Mark, Panoskaltsis, Nicki, Sohal, Mamta, Trapani, Joseph A., Voskoboinik, Ilia
Publicado no Oncoimmunology (2016)

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

Por Chandra, Anita, Zhang, Fang, Gilmour, Kimberly C., Webster, David, Plagnol, Vincent, Kumararatne, Dinakantha S., Burns, Siobhan O., Nejentsev, Sergey, Thrasher, Adrian J.
Publicado no J Allergy Clin Immunol (2016)

Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

Por Jones, Matthew L, Murden, Sherina L, Brooks, Claire, Maloney, Viv, Manning, Richard A, Gilmour, Kimberly C, Bharadwaj, Vandana, de la Fuente, Josu, Chakravorty, Subarna, Mumford, Andrew D
Publicado em 2013

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

Por Cetica, Valentina, Santoro, Alessandra, Gilmour, Kimberly C, Sieni, Elena, Beutel, Karin, Pende, Daniela, Marcenaro, Stefania, Koch, Florian, Grieve, Samantha, Wheeler, Rachel, Zhao, Fang, zur Stadt, Udo, Griffiths, Gillian M, Aricò, Maurizio
Publicado em 2010

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

Por Eletto, Davide, Burns, Siobhan O., Angulo, Ivan, Plagnol, Vincent, Gilmour, Kimberly C., Henriquez, Frances, Curtis, James, Gaspar, Miguel, Nowak, Karolin, Daza-Cajigal, Vanessa, Kumararatne, Dinakantha, Doffinger, Rainer, Thrasher, Adrian J., Nejentsev, Sergey
Publicado no Nat Commun (2016)

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ()

Por Burns, Siobhan O., Plagnol, Vincent, Gutierrez, Beatriz Morillo, Al Zahrani, Daifulah, Curtis, James, Gaspar, Miguel, Hassan, Amel, Jones, Alison M., Malone, Marian, Rampling, Dyanne, McLatchie, Alex, Doffinger, Rainer, Gilmour, Kimberly C., Henriquez, Frances, Thrasher, Adrian J., Gaspar, H. Bobby, Nejentsev, Sergey
Publicado em 2014

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

Por Standing, Ariane S.I., Malinova, Dessislava, Hong, Ying, Record, Julien, Moulding, Dale, Blundell, Michael P., Nowak, Karolin, Jones, Hannah, Omoyinmi, Ebun, Gilmour, Kimberly C., Medlar, Alan, Stanescu, Horia, Kleta, Robert, Anderson, Glenn, Nanthapisal, Sira, Gomes, Sonia Melo, Klein, Nigel, Eleftheriou, Despina, Thrasher, Adrian J., Brogan, Paul A.
Publicado no J Exp Med (2017)

Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo

Por Schwarzwaelder, Kerstin, Howe, Steven J., Schmidt, Manfred, Brugman, Martijn H., Deichmann, Annette, Glimm, Hanno, Schmidt, Sonja, Prinz, Claudia, Wissler, Manuela, King, Douglas J.S., Zhang, Fang, Parsley, Kathryn L., Gilmour, Kimberly C., Sinclair, Joanna, Bayford, Jinhua, Peraj, Rachel, Pike-Overzet, Karin, Staal, Frank J.T., de Ridder, Dick, Kinnon, Christine, Abel, Ulrich, Wagemaker, Gerard, Gaspar, H. Bobby, Thrasher, Adrian J., von Kalle, Christof
Publicado em 2007

Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients

Por Howe, Steven J., Mansour, Marc R., Schwarzwaelder, Kerstin, Bartholomae, Cynthia, Hubank, Michael, Kempski, Helena, Brugman, Martijn H., Pike-Overzet, Karin, Chatters, Stephen J., de Ridder, Dick, Gilmour, Kimberly C., Adams, Stuart, Thornhill, Susannah I., Parsley, Kathryn L., Staal, Frank J.T., Gale, Rosemary E., Linch, David C., Bayford, Jinhua, Brown, Lucie, Quaye, Michelle, Kinnon, Christine, Ancliff, Philip, Webb, David K., Schmidt, Manfred, von Kalle, Christof, Gaspar, H. Bobby, Thrasher, Adrian J.
Publicado em 2008

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)

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

Por Booth, Claire, Gilmour, Kimberly C., Veys, Paul, Gennery, Andrew R., Slatter, Mary A., Chapel, Helen, Heath, Paul T., Steward, Colin G., Smith, Owen, O'Meara, Anna, Kerrigan, Hilary, Mahlaoui, Nizar, Cavazzana-Calvo, Marina, Fischer, Alain, Moshous, Despina, Blanche, Stephane, Pachlopnick-Schmid, Jana, Latour, Sylvain, de Saint-Basile, Genevieve, Albert, Michael, Notheis, Gundula, Rieber, Nikolaus, Strahm, Brigitte, Ritterbusch, Henrike, Lankester, Arjan, Hartwig, Nico G., Meyts, Isabelle, Plebani, Alessandro, Soresina, Annarosa, Finocchi, Andrea, Pignata, Claudio, Cirillo, Emilia, Bonanomi, Sonia, Peters, Christina, Kalwak, Krzysztof, Pasic, Srdjan, Sedlacek, Petr, Jazbec, Janez, Kanegane, Hirokazu, Nichols, Kim E., Hanson, I. Celine, Kapoor, Neena, Haddad, Elie, Cowan, Morton, Choo, Sharon, Smart, Joanne, Arkwright, Peter D., Gaspar, Hubert B.
Publicado em 2011