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Select item 26510121.

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

Ulrich Salzer, Chiara Bacchelli, Sylvie Buckridge, Qiang Pan-Hammarström, Stephanie Jennings, Vassilis Lougaris, Astrid Bergbreiter, Tina Hagena, Jennifer Birmelin, Alessandro Plebani, A. David B. Webster, Hans-Hartmut Peter, Daniel Suez, Helen Chapel, Andrew McLean-Tooke, Gavin P. Spickett, Stephanie Anover-Sombke, Hans D. Ochs, Simon Urschel, Bernd H. Belohradsky, Sanja Ugrinovic, Dinakantha S. Kumararatne, Tatiana C. Lawrence, Are M. Holm, Jose L. Franco, Ilka Schulze, Pascal Schneider, E. Michael Gertz, Alejandro A. Schäffer, Lennart Hammarström, Adrian J. Thrasher, H. Bobby Gaspar, Bodo Grimbacher

Blood. 2009 Feb 26; 113(9): 1967–1976. Prepublished online 2008 Nov 3. doi: 10.1182/blood-2008-02-141937

PMCID:: PMC2651012

Abstract Article

Select item 32983682.

Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions

Michael J. Ombrello, Elaine F. Remmers, Guangping Sun, Alexandra F. Freeman, Shrimati Datta, Parizad Torabi-Parizi, Naeha Subramanian, Tom D. Bunney, Rhona W. Baxendale, Marta S. Martins, Neil Romberg, Hirsh Komarow, Ivona Aksentijevich, Hun Sik Kim, Jason Ho, Glenn Cruse, Mi-Yeon Jung, Alasdair M. Gilfillan, Dean D. Metcalfe, Celeste Nelson, Michelle O'Brien, Laura Wisch, Kelly Stone, Daniel C. Douek, Chhavi Gandhi, Alan A. Wanderer, Hane Lee, Stanley F. Nelson, Kevin V. Shianna, Elizabeth T. Cirulli, David B. Goldstein, Eric O. Long, Susan Moir, Eric Meffre, Steven M. Holland, Daniel L. Kastner, Matilda Katan, Hal M. Hoffman, Joshua D. Milner

N Engl J Med. Author manuscript; available in PMC 2012 Jul 26.

Published in final edited form as: N Engl J Med. 2012 Jan 26; 366(4): 330–338. Published online 2012 Jan 11. doi: 10.1056/NEJMoa1102140

PMCID:: PMC3298368

Abstract Article PDF–433K

Select item 30879343.

Importance of B cell co-stimulation in CD4⁺ T cell differentiation: X-linked agammaglobulinaemia, a human model

H Martini, V Enright, M Perro, S Workman, J Birmelin, E Giorda, I Quinti, V Lougaris, M Baronio, K Warnatz, B Grimbacher

Clin Exp Immunol. 2011 Jun; 164(3): 381–387. doi: 10.1111/j.1365-2249.2011.04377.x

PMCID:: PMC3087934

Abstract Article PDF–284K

Select item 29629724.

NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders

K Packwood, E Drewe, E Staples, D Webster, T Witte, J Litzman, W Egner, R Sargur, W Sewell, E Lopez-Granados, S L Seneviratne, R J Powell, B L Ferry, H M Chapel

Clin Exp Immunol. 2010 Sep; 161(3): 536–541. doi: 10.1111/j.1365-2249.2010.04216.x

PMCID:: PMC2962972

Abstract Article PDF–189K

Select item 29236135.

Unique DNA Repair Gene Variations and Potential Associations with the Primary Antibody Deficiency Syndromes IgAD and CVID

Steven M. Offer, Qiang Pan-Hammarström, Lennart Hammarström, Reuben S. Harris

PLoS One. 2010; 5(8): e12260. Published online 2010 Aug 18. doi: 10.1371/journal.pone.0012260

PMCID:: PMC2923613

Abstract Article PDF–440K

Select item 29085046.

Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: Clinical and immunologic outcomes in heterozygotes

Li Zhang, Lin Radigan, Ulrich Salzer, Timothy W. Behrens, Bodo Grimbacher, George Diaz, James Bussel, Charlotte Cunningham-Rundles

J Allergy Clin Immunol. Author manuscript; available in PMC 2010 Jul 22.

Published in final edited form as: J Allergy Clin Immunol. 2007 Nov; 120(5): 1178–1185. doi: 10.1016/j.jaci.2007.10.001

PMCID:: PMC2908504

Abstract Article PDF–2.2M

Select item 28460427.

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency

Menno C. van Zelm, Julie Smet, Brigitte Adams, Françoise Mascart, Liliane Schandené, Françoise Janssen, Alina Ferster, Chiung-Chi Kuo, Shoshana Levy, Jacques J.M. van Dongen, Mirjam van der Burg

J Clin Invest. 2010 Apr 1; 120(4): 1265–1274. Published online 2010 Mar 8. doi: 10.1172/JCI39748

PMCID:: PMC2846042

Abstract Article PDF–1.2M

Select item 27605258.

Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B*44 or HLA*B8

Manda L Waldrep, Yingxin Zhuang, Harry W Schroeder, Jr

BMC Med Genet. 2009; 10: 100. Published online 2009 Sep 23. doi: 10.1186/1471-2350-10-100

PMCID:: PMC2760525

Abstract Article PDF–387K

Select item 26608639.

c-Abl-deficient mice exhibit reduced numbers of peritoneal B-1 cells and defects in BCR-induced B cell activation

Rachel A. Liberatore, Stephen P. Goff

Int Immunol. 2009 Apr; 21(4): 403–414. Published online 2009 Feb 19. doi: 10.1093/intimm/dxp006

PMCID:: PMC2660863

Abstract Article PDF–888K

Select item 265226610.

CTP:Phosphocholine Cytidylyltransferase α Is Required for B-cell Proliferation and Class Switch Recombination

Paolo Fagone, Christopher Gunter, Christopher R. Sage, Kathryn E. Gunn, Joseph W. Brewer, Suzanne Jackowski

J Biol Chem. 2009 Mar 13; 284(11): 6847–6854. doi: 10.1074/jbc.M807338200

PMCID:: PMC2652266

Abstract Article PDF–575K

Select item 329970411.

Dynamics of Envelope Evolution in Clade C SHIV-Infected Pig-Tailed Macaques during Disease Progression Analyzed by Ultra-Deep Pyrosequencing

For Yue Tso, Damien C. Tully, Sandra Gonzalez, Christopher Quince, On Ho, Patricia Polacino, Ruth M. Ruprecht, Shiu-Lok Hu, Charles Wood

PLoS One. 2012; 7(3): e32827. Published online 2012 Mar 12. doi: 10.1371/journal.pone.0032827

PMCID:: PMC3299704

Abstract Article PDF–1.3M

Select item 263662712.

Transgenic Mice Expressing Dominant Negative Bright Exhibit Defects in B1 B Cells

Jamee C. Nixon, Scott Ferrell, Cathrine Miner, Athenia L. Oldham, Ute Hochgeschwender, Carol F. Webb

J Immunol. Author manuscript; available in PMC 2009 Nov 15.

Published in final edited form as: J Immunol. 2008 Nov 15; 181(10): 6913–6922. doi: 10.4049/jimmunol.181.10.6913

PMCID:: PMC2636627

Abstract Article PDF–3.8M

Select item 252735613.

Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency

J Litzman, T Freiberger, B Grimbacher, B Gathmann, U Salzer, T Pavlík, J Vlček, V Postránecká, Z Trávníčková, V Thon

Clin Exp Immunol. 2008 Sep; 153(3): 324–330. doi: 10.1111/j.1365-2249.2008.03700.x

PMCID:: PMC2527356

Abstract Article PDF–149K

Select item 227696414.

Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman–Diamond syndrome

S Khan, J Hinks, J Shorto, M J Schwarz, W A C Sewell

Clin Exp Immunol. 2008 Mar; 151(3): 448–454. doi: 10.1111/j.1365-2249.2007.03556.x

PMCID:: PMC2276964

Abstract Article PDF–204K

Select item 226891415.

Screening of functional and positional candidate genes in families with common variable immunodeficiency

Ulrich Salzer, Carla Neumann, Jens Thiel, Cristina Woellner, Qiang Pan-Hammarström, Vassilis Lougaris, Tina Hagena, Johannes Jung, Jennifer Birmelin, Likun Du, Ayse Metin, David A Webster, Alessandro Plebani, Viviana Moschese, Lennart Hammarström, Alejandro A Schäffer, Bodo Grimbacher

BMC Immunol. 2008; 9: 3. Published online 2008 Feb 7. doi: 10.1186/1471-2172-9-3