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Items: 1 to 20 of 65

1.
A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression
Kaihui Zhang, Lili Kang, Haozheng Zhang, Lu Bai, Huanping Pang, Qinghua Liu, Xinyi Zhang, Dong Chen, Haihua Yu, Yuqiang Lv, Min Gao, Yi Liu, Zhongtao Gai, Dong Wang, Xiaoying Li
Front Immunol. 2022; 13: 987666. Published online 2022 Oct 19. doi: 10.3389/fimmu.2022.987666
PMCID:
PMC9627211
AbstractArticlePDF–3.5M
2.
Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency
Robert Sokolic, Irina Maric, Chimene Kesserwan, Elizabeth Garabedian, I. Celine Hanson, Margaret Dodds, Rebecca Buckley, Andrew C. Issekutz, Naynesh Kamani, Kit Shaw, Ben Tan, Pawan Bali, Michael S. Hershfield, Donald B. Kohn, Alan S. Wayne, Fabio Candotti
Blood. 2011 Sep 8; 118(10): 2688–2694. Prepublished online 2011 Jul 1. doi: 10.1182/blood-2011-01-329359
Correction in:
Blood. 2014 Mar 13; 123(11): 1767.
PMCID:
PMC3172788
AbstractArticle
3.
Causal relationships between gut microbiota, plasma metabolites, and HIV infection: insights from Mendelian randomization and mediation analysis
Jiapeng Hu, Jinxin Hu, Dan Han
Virol J. 2024; 21: 204. Published online 2024 Aug 30. doi: 10.1186/s12985-024-02480-1
PMCID:
PMC11365174
AbstractArticlePDF–1.9M
4.
N-WASP is required for B-cell–mediated autoimmunity in Wiskott-Aldrich syndrome
Stefano Volpi, Elettra Santori, Katrina Abernethy, Masayuki Mizui, Carin I. M. Dahlberg, Mike Recher, Kelly Capuder, Eva Csizmadia, Douglas Ryan, Divij Mathew, George C. Tsokos, Scott Snapper, Lisa S. Westerberg, Adrian J. Thrasher, Fabio Candotti, Luigi D. Notarangelo
Blood. 2016 Jan 14; 127(2): 216–220. Prepublished online 2015 Oct 14. doi: 10.1182/blood-2015-05-643817
PMCID:
PMC4713162
AbstractArticle
5.
Multiple Intestinal Atresia With Combined Immune Deficiency Related to TTC7A Defect Is a Multiorgan Pathology: Study of a French-Canadian-Based Cohort
Isabel Fernandez, Natalie Patey, Valérie Marchand, Mirela Birlea, Bruno Maranda, Elie Haddad, Hélène Decaluwe, Françoise Le Deist
Medicine (Baltimore) 2014 Dec; 93(29): e327. Published online 2014 Dec 2. doi: 10.1097/MD.0000000000000327
PMCID:
PMC4602622
AbstractArticlePDF–1.9M
6.
Crohn’s Disease: an Immune Deficiency State
Daniel J. B. Marks, Farooq Z. Rahman, Gavin W. Sewell, Anthony W. Segal
Clin Rev Allergy Immunol. Author manuscript; available in PMC 2015 Sep 14.
Published in final edited form as: Clin Rev Allergy Immunol. 2010 Feb; 38(1): 20–31. doi: 10.1007/s12016-009-8133-2
PMCID:
PMC4568313
AbstractArticlePDF–826K
7.
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
Joshua D. Milner, Tiphanie P. Vogel, Lisa Forbes, Chi A. Ma, Asbjørg Stray-Pedersen, Julie E. Niemela, Jonathan J. Lyons, Karin R. Engelhardt, Yu Zhang, Nermina Topcagic, Elisha D. O. Roberson, Helen Matthews, James W. Verbsky, Trivikram Dasu, Alexander Vargas-Hernandez, Nidhy Varghese, Kenneth L. McClain, Lina B. Karam, Karen Nahmod, George Makedonas, Emily M. Mace, Hanne S. Sorte, Gøri Perminow, V. Koneti Rao, Michael P. O’Connell, Susan Price, Helen C. Su, Morgan Butrick, Joshua McElwee, Jason D. Hughes, Joseph Willet, David Swan, Yaobo Xu, Mauro Santibanez-Koref, Voytek Slowik, Darrell L. Dinwiddie, Christina E. Ciaccio, Carol J. Saunders, Seth Septer, Stephen F. Kingsmore, Andrew J. White, Andrew J. Cant, Sophie Hambleton, Megan A. Cooper
Blood. 2015 Jan 22; 125(4): 591–599. Prepublished online 2014 Oct 30. doi: 10.1182/blood-2014-09-602763
PMCID:
PMC4304103
AbstractArticle
8.
Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response
Le Wang, Kamila Rosamilia Kantovitz, Andrew Robert Cullinane, Francisco Humberto Nociti, Jr., Brian Lee Foster, Joseph Concepcion Roney, Anne Bich Tran, Wendy Jewell Introne, Martha Joan Somerman
Orphanet J Rare Dis. 2014; 9: 212. Published online 2014 Dec 21. doi: 10.1186/s13023-014-0212-7
PMCID:
PMC4296684
AbstractArticlePDF–1.7M
9.
Actinomyces in Chronic Granulomatous Disease: An Emerging and Unanticipated Pathogen
Janine Reichenbach, Uri Lopatin, Nizar Mahlaoui, Bojana Beovic, Ulrich Siler, Reinhard Zbinden, Reinhard A. Seger, Louise Galmiche, Nicole Brousse, Samer Kayal, Tayfun Güngör, Stéphane Blanche, Steven M. Holland
Clin Infect Dis. Author manuscript; available in PMC 2014 Jul 16.
Published in final edited form as: Clin Infect Dis. 2009 Dec 1; 49(11): 1703–1710. doi: 10.1086/647945
PMCID:
PMC4100544
AbstractArticlePDF–1.4M
10.
Kyasanur Forest Disease Virus Infection in Mice Is Associated with Higher Morbidity and Mortality than Infection with the Closely Related Alkhurma Hemorrhagic Fever Virus
Kimberly A. Dodd, Brian H. Bird, Megan E. B. Jones, Stuart T. Nichol, Christina F. Spiropoulou
PLoS One. 2014; 9(6): e100301. Published online 2014 Jun 20. doi: 10.1371/journal.pone.0100301
PMCID:
PMC4065072
AbstractArticlePDF–1.2M
11.
CXCR4/IgG-expressing plasma cells are associated with human gastrointestinal tissue inflammation
Clarisa M. Buckner, Susan Moir, Lela Kardava, Jason Ho, Brian H. Santich, Leo Jin Young Kim, Emily K. Funk, Amy K. Nelson, Britanny Winckler, Cheryl L. Chairez, Narda L. Theobald-Whiting, Sandra Anaya-O’Brien, Meghna Alimchandani, Martha M. Quezado, Michael D. Yao, Joseph A. Kovacs, Tae-Wook Chun, Anthony S. Fauci, Harry L. Malech, Suk See De Ravin
J Allergy Clin Immunol. Author manuscript; available in PMC 2015 Jun 1.
Published in final edited form as: J Allergy Clin Immunol. 2014 Jun; 133(6): 1676–1685.e5. Published online 2013 Dec 25. doi: 10.1016/j.jaci.2013.10.050
PMCID:
PMC4040303
AbstractArticlePDF–1.2M
12.
TTC7A mutations disrupt intestinal epithelial apicobasal polarity
Amélie E. Bigorgne, Henner F. Farin, Roxane Lemoine, Nizar Mahlaoui, Nathalie Lambert, Marine Gil, Ansgar Schulz, Pierre Philippet, Patrick Schlesser, Tore G. Abrahamsen, Knut Oymar, E. Graham Davies, Christian Lycke Ellingsen, Emmanuelle Leteurtre, Brigitte Moreau-Massart, Dominique Berrebi, Christine Bole-Feysot, Patrick Nischke, Nicole Brousse, Alain Fischer, Hans Clevers, Geneviève de Saint Basile
J Clin Invest. 2014 Jan 2; 124(1): 328–337. Published online 2013 Dec 2. doi: 10.1172/JCI71471
PMCID:
PMC3871247
AbstractArticlePDF–4.3M
13.
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
Daniel H. Wiseman, Alison May, Stephen Jolles, Philip Connor, Colin Powell, Matthew M. Heeney, Patricia J. Giardina, Robert J. Klaassen, Pranesh Chakraborty, Michael T. Geraghty, Nathalie Major-Cook, Caroline Kannengiesser, Isabelle Thuret, Alexis A. Thompson, Laura Marques, Stephen Hughes, Denise K. Bonney, Sylvia S. Bottomley, Mark D. Fleming, Robert F. Wynn
Blood. 2013 Jul 4; 122(1): 112–123. Prepublished online 2013 Apr 3. doi: 10.1182/blood-2012-08-439083
PMCID:
PMC3761334
AbstractArticle
14.
Comèl-Netherton syndrome – defined as primary immunodeficiency
Ellen D Renner, Dominik Hartl, Stacey Rylaarsdam, Marguerite L Young, Linda Monaco-Shawver, Gary Kleiner, M Louise Markert, E Richard Stiehm, Bernd H Belohradsky, Melissa P. Upton, Troy R Torgerson, Jordan S Orange, Hans D Ochs
J Allergy Clin Immunol. Author manuscript; available in PMC 2013 Jun 18.
Published in final edited form as: J Allergy Clin Immunol. 2009 Sep; 124(3): 536–543. Published online 2009 Aug 14. doi: 10.1016/j.jaci.2009.06.009
Correction in:
volume 124 on page 1318
PMCID:
PMC3685174
AbstractArticlePDF–1007K
15.
Focused Examination of the Intestinal Epithelium Reveals Transcriptional Signatures Consistent with Disturbances in Enterocyte Maturation and Differentiation during the Course of SIV Infection
Mahesh Mohan, Deepak Kaushal, Pyone P. Aye, Xavier Alvarez, Ronald S. Veazey, Andrew A. Lackner
PLoS One. 2013; 8(4): e60122. Published online 2013 Apr 9. doi: 10.1371/journal.pone.0060122
PMCID:
PMC3621888
AbstractArticlePDF–2.5M
16.
Recent Insights into the Pathobiology of Innate Immune Deficiencies
Sergio D. Rosenzweig, Steven M. Holland
Curr Allergy Asthma Rep. Author manuscript; available in PMC 2012 Oct 1.
Published in final edited form as: Curr Allergy Asthma Rep. 2011 Oct; 11(5): 369–377. doi: 10.1007/s11882-011-0212-9
PMCID:
PMC3407815
AbstractArticlePDF–712K
17.
Sequencing of Bacterial Microflora in Peripheral Blood: our Experience with HIV-infected Patients
Esther Merlini, Giusi M. Bellistri, Camilla Tincati, Antonella d'Arminio Monforte, Giulia Marchetti
J Vis Exp. 2011; (52): 2830. Published online 2011 Jun 11. doi: 10.3791/2830
PMCID:
PMC3197057
AbstractArticlePDF–428K
18.
22q11.2 deletion syndrome
Donna M. McDonald-McGinn, Kathleen E. Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A. S. Vorstman, Elaine H. Zackai, Beverly S. Emanuel, Joris R. Vermeesch, Bernice E. Morrow, Peter J. Scambler, Anne S. Bassett
Nat Rev Dis Primers. Author manuscript; available in PMC 2016 Jun 9.
Published in final edited form as: Nat Rev Dis Primers. 2015; 1: 15071. Published online 2015 Nov 19. doi: 10.1038/nrdp.2015.71
PMCID:
PMC4900471
AbstractArticlePDF–2.3M
19.
Molecular Characterization of Stool Microbiota in HIV-Infected Subjects by Panbacterial and Order-Level 16S Ribosomal DNA (rDNA) Quantification and Correlations with Immune Activation
Collin L. Ellis, Zhong-Min Ma, Surinder K. Mann, Chin-Shang Li, Jian Wu, Thomas H. Knight, Tammy Yotter, Timothy L. Hayes, Archana H. Maniar, Paolo V. Troia-Cancio, Heather A Overman, Natalie J. Torok, Anthony Albanese, John C. Rutledge, Christopher J. Miller, Richard B. Pollard, David M. Asmuth
J Acquir Immune Defic Syndr. Author manuscript; available in PMC 2012 Aug 15.
Published in final edited form as: J Acquir Immune Defic Syndr. 2011 Aug 15; 57(5): 363–370. doi: 10.1097/QAI.0b013e31821a603c
PMCID:
PMC3153564
AbstractArticlePDF–1.7M
20.
Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2
Jessica C. de Greef, Jun Wang, Judit Balog, Johan T. den Dunnen, Rune R. Frants, Kirsten R. Straasheijm, Caner Aytekin, Mirjam van der Burg, Laurence Duprez, Alina Ferster, Andrew R. Gennery, Giorgio Gimelli, Ismail Reisli, Catharina Schuetz, Ansgar Schulz, Dominique F.C.M. Smeets, Yves Sznajer, Cisca Wijmenga, Marja C. van Eggermond, Monique M. van Ostaijen-ten Dam, Arjan C. Lankester, Maarten J.D. van Tol, Peter J. van den Elsen, Corry M. Weemaes, Silvère M. van der Maarel
Am J Hum Genet. 2011 Jun 10; 88(6): 796–804. doi: 10.1016/j.ajhg.2011.04.018
PMCID:
PMC3113345
AbstractArticlePDF–677K

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