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Further immunological studies revealed that T-cell lymphoproliferation, deficiency of regulatory, and helper 17 T cells, natural killer cells, dendritic cells
(2015)
Regulatory B cells: origin, phenotype, and function. Immunity 2015; 42:607–612
Y. Lee, Francesco Frugoni, K. Dobbs, J. Walter, S. Giliani, A. Gennery, W. Al-Herz, E. Haddad, F. Ledeist, Jack Bleesing, L. Henderson, S. Pai, R. Nelson, D. El-Ghoneimy, R. El-Feky, S. Reda, E. Hossny, P. Soler-Palacín, R. Fuleihan, N. Patel, M. Massaad, R. Geha, J. Puck, P. Palma, C. Cancrini, Karin Chen, M. Vihinen, F. Alt, L. Notarangelo (2013)
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.The Journal of allergy and clinical immunology, 133 4
J. Woodward, E. Gkrania-Klotsas, Anthony Cordero-Ng, A. Aravinthan, B. Bandoh, Hongxiang Liu, S. Davies, Hongyi Zhang, P. Stevenson, M. Curran, D. Kumararatne (2015)
The Role Of Chronic Norovirus Infection In The Enteropathy Associated With Common Variable ImmunodeficiencyThe American Journal of Gastroenterology, 110
A. Belot, P. Kasher, Eleanor Trotter, A. Foray, Anne-Laure Debaud, G. Rice, M. Szynkiewicz, M. Zabot, I. Rouvet, S. Bhaskar, Sarah Daly, Jonathan Dickerson, Joséphine Mayer, J. O’Sullivan, L. Juillard, J. Urquhart, Shameem Fawdar, Anna Marusiak, Natalie Stephenson, B. Waszkowycz, Michael Beresford, L. Biesecker, Graeme Black, C. René, J. Eliaou, N. Fabien, B. Ranchin, P. Cochat, P. Gaffney, F. Rozenberg, P. Lebon, C. Malcus, Y. Crow, J. Brognard, N. Bonnefoy (2013)
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.Arthritis and rheumatism, 65 8
F. Kollert, N. Venhoff, S. Goldacker, Claudia Wehr, Niklas Lützen, R. Voll, A. Prasse, K. Warnatz (2014)
Bronchoalveolar lavage cytology resembles sarcoidosis in a subgroup of granulomatous CVIDEuropean Respiratory Journal, 43
Shrimati Datta, N. Sarvetnick (2009)
Lymphocyte proliferation in immune-mediated diseases.Trends in immunology, 30 9
(2013)
Loss-of-function of the protein kinase C delta (PKCdelta) causes a B-cell lymphoproliferative syndrome in humans
Yin Liu, A. Jesus, B. Marrero, Dan Yang, S. Ramsey, S. Ramsey, G. Sanchez, K. Tenbrock, K. Tenbrock, H. Wittkowski, H. Wittkowski, O. Jones, O. Jones, H. Kuehn, C. Lee, M. Dimattia, E. Cowen, B. Gonzalez, I. Palmer, J. DiGiovanna, A. Biancotto, Ha Kim, W. Tsai, A. Trier, Yan Huang, D. Stone, S. Hill, H. Kim, C. Hilaire, S. Gurprasad, N. Plass, D. Chapelle, I. horkayne-Szakaly, I. horkayne-Szakaly, D. Foell, D. Foell, A. Barysenka, A. Barysenka, F. Candotti, S. Holland, J. Hughes, J. Hughes, H. Mehmet, H. Mehmet, A. Issekutz, A. Issekutz, M. Raffeld, J. McElwee, J. McElwee, J. Fontana, C. Minniti, S. Moir, D. Kastner, M. Gadina, A. Steven, P. Wingfield, S. Brooks, S. Rosenzweig, T. Fleisher, Z. Deng, M. Boehm, A. Paller, A. Paller, R. Goldbach-Mansky (2014)
Activated STING in a vascular and pulmonary syndrome.The New England journal of medicine, 371 6
M. Rakhmanov, Baerbel Keller, S. Gutenberger, Christian Foerster, M. Hoenig, G. Driessen, M. Burg, J. Dongen, Elisabeth Wiech, M. Visentini, I. Quinti, A. Prasse, N. Voelxen, U. Salzer, S. Goldacker, P. Fisch, H. Eibel, K. Schwarz, H. Peter, K. Warnatz (2009)
Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cellsProceedings of the National Academy of Sciences, 106
Pan-Hammarstrom (2007)
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency.Nat Genet, 39
N. Romberg, Nicolas Chamberlain, D. Saadoun, M. Gentile, T. Kinnunen, Yen-shing Ng, Manmeet Virdee, L. Menard, T. Cantaert, H. Morbach, R. Rachid, N. Martínez-Pomar, N. Matamoros, R. Geha, B. Grimbacher, A. Cerutti, C. Cunningham-Rundles, E. Meffre (2013)
CVID-associated TACI mutations affect autoreactive B cell selection and activation.The Journal of clinical investigation, 123 10
N. Romberg, Manmeet Virdee, Nicolas Chamberlain, T. Oe, J. Schickel, Tiffany Perkins, T. Cantaert, R. Rachid, S. Rosengren, R. Palazzo, R. Geha, C. Cunningham-Rundles, E. Meffre (2015)
TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.The Journal of allergy and clinical immunology, 136 5
P. Mannon, I. Fuss, Susie Dill, J. Friend, C. Groden, R. Hornung, Zhiqiong Yang, Chuli Yi, M. Quezado, Margaret Brown, W. Strober (2006)
Excess IL-12 but not IL-23 accompanies the inflammatory bowel disease associated with common variable immunodeficiency.Gastroenterology, 131 3
P. Matzinger (2002)
The Danger Model: A Renewed Sense of SelfScience, 296
Mathis (2009)
Aire.Annu Rev Immunol, 27
M. Hedayat, M. Massaad, Y. Lee, M. Conley, J. Orange, Toshiro Ohsumi, W. Al-Herz, L. Notarangelo, R. Geha, J. Chou (2014)
Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.The Journal of allergy and clinical immunology, 134 4
(2015)
Haploinsufficiency of the NF-kB1 subunit p50 in common variable immunodeficiency
This study demonstrates that the CD4 T-cell exhaustion and functional impairment observed in CVID patients is associated with bacterial translocation
(2014)
The authors describe an atypical presentation of homozygous missense mutation in RAG1, namely with agammaglobulinemia, absent B cells, and normal numbers of T cells
M. Conley, M. Conley, A. Dobbs, A. Quintana, Amma Bosompem, Y. Wang, E. Coustan-Smith, Amber Smith, E. Perez, P. Murray (2012)
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3KThe Journal of Experimental Medicine, 209
M. Zelm, I. Reisli, M. Burg, Diana Castaño, C. Noesel, M. Tol, C. Woellner, B. Grimbacher, P. Patiño, J. Dongen, J. Franco (2006)
An antibody-deficiency syndrome due to mutations in the CD19 gene.The New England journal of medicine, 354 18
N. Chase, J. Verbsky, Mary Hintermeyer, J. Waukau, A. Tomita‐Mitchell, J. Casper, Sumit Singh, K. Shahir, W. Tisol, M. Nugent, R. Rao, A. Mackinnon, L. Goodman, P. Simpson, J. Routes (2012)
Use of Combination Chemotherapy for Treatment of Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) in Patients with Common Variable Immunodeficiency (CVID)Journal of Clinical Immunology, 33
L. Dupré, A. Aiuti, S. Trifari, S. Martino, P. Saracco, C. Bordignon, M. Roncarolo (2002)
Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation.Immunity, 17 2
(2010)
B-cell and T-cell phenotypes in patients with CVID correlate with the clinical phenotype of the disease
Kuehn (2014)
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.Science, 345
A. Ven, E. Compeer, A. Bloem, L. Corput, M. Gijn, J. Montfrans, M. Boes (2012)
Defective calcium signaling and disrupted CD20-B-cell receptor dissociation in patients with common variable immunodeficiency disorders.The Journal of allergy and clinical immunology, 129 3
Schubert (2014)
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.Nat Med, 20
M. Perreau, S. Viganó, F. Bellanger, C. Pellaton, G. Buss, D. Comte, T. Roger, C. Lacabaratz, P. Bart, Y. Lévy, G. Pantaleo (2014)
Exhaustion of bacteria-specific CD4 T cells and microbial translocation in common variable immunodeficiency disordersThe Journal of Experimental Medicine, 211
(2015)
Regulatory B cells in CVID patients fail to suppress multifunctional IFN-gammaTNF-alphaCD4 T cells differentiation
A. Rensing-Ehl, K. Warnatz, Sebastian Fuchs, M. Schlesier, U. Salzer, R. Draeger, Ilka Bondzio, Y. Joos, A. Janda, M. Gomes, M. Abinun, S. Hambleton, A. Cant, Fiona Shackley, Terry Flood, Catherine Waruiru, K. Beutel, K. Siepermann, G. Dueckers, T. Niehues, Thomas Wiesel, Volker Schuster, Markus Seidel, M. Minkov, Kirsti Sirkia, Matthias Kopp, Matti Korhonen, K. Schwarz, S. Ehl, C. Speckmann (2010)
Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency.Clinical immunology, 137 3
Claudia Wehr, A. Gennery, C. Lindemans, A. Schulz, M. Hoenig, R. Marks, M. Recher, B. Gruhn, A. Holbro, I. Heijnen, D. Meyer, G. Grigoleit, H. Einsele, U. Baumann, T. Witte, K. Sykora, S. Goldacker, L. Regairaz, S. Aksoylar, Ö. Ardeniz, M. Zecca, P. Zdziarski, I. Meyts, S. Matthes‐Martin, K. Imai, C. Kamae, A. Fielding, S. Seneviratne, N. Mahlaoui, M. Slatter, T. Güngör, Peter Arkwright, J. Montfrans, Kathleen Sullivan, B. Grimbacher, A. Cant, H. Peter, J. Finke, H. Gaspar, K. Warnatz, M. Rizzi (2015)
Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency.The Journal of allergy and clinical immunology, 135 4
R. Linka, Sarah Risse, K. Bienemann, M. Werner, Y. Linka, F. Krux, Cindy Synaeve, René Deenen, S. Ginzel, R. Dvorsky, M. Gombert, A. Halenius, Roland Hartig, Mika Helminen, Aude Fischer, Polina Stepensky, Kim Vettenranta, Karl Köhrer, M. Ahmadian, Hans-Jürgen Laws, Bernhard Fleckenstein, Hassan Jumaa, Sylvain Latour, B. Schraven, Arndt Borkhardt (2012)
Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseasesLeukemia, 26
K. Willmann, Stefanie Klaver, F. Doğu, E. Santos-Valente, W. Garncarz, I. Bilic, E. Mace, E. Salzer, Cecilia Conde, Heiko Sic, P. Májek, P. Banerjee, G. Vladimer, Şule Haskoloğlu, Musa Bolkent, A. Küpesiz, A. Condino-Neto, J. Colinge, G. Superti-Furga, W. Pickl, M. Zelm, H. Eibel, J. Orange, A. Ikinciogullari, K. Boztug (2014)
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunityNature Communications, 5
L. Charbonnier, E. Janssen, J. Chou, Toshiro Ohsumi, S. Keleş, Joyce Hsu, M. Massaad, M. Garcia-Lloret, Rima Hanna-Wakim, G. Dbaibo, A. Alangari, A. Alsultan, D. Al-Zahrani, R. Geha, T. Chatila (2015)
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.The Journal of allergy and clinical immunology, 135 1
(2014)
Dysregulated extracellular signalregulated kinase signaling associated with impaired B-cell receptor endocytosis in patients with common variable immunodeficiency
U. Salzer, C. Bacchelli, S. Buckridge, Q. Pan-Hammarström, Stephanie Jennings, V. Lougaris, A. Bergbreiter, T. Hagena, Jennifer Birmelin, A. Plebani, A. Webster, H. Peter, D. Suez, H. Chapel, A. Mclean-Tooke, G. Spickett, Stephanie Anover-Sombke, H. Ochs, S. Urschel, B. Belohradsky, S. Ugrinovic, D. Kumararatne, T. Lawrence, A. Holm, J. Franco, I. Schulze, P. Schneider, E. Gertz, A. Schäffer, L. Hammarström, A. Thrasher, H. Gaspar, B. Grimbacher (2008)
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.Blood, 113 9
G. Wong, S. Goldacker, C. Winterhalter, B. Grimbacher, H. Chapel, M. Lucas, D. Alecsandru, D. McEwen, I. Quinti, H. Martini, R. Schmidt, D. Ernst, T. Español, A. Vidaller, J. Carbone, E. Fernandez-cruz, V. Lougaris, A. Plebani, N. Kutukculer, L. González-Granado, R. Contreras, S. Kiani-Alikhan, M. Ibrahim, J. Litzman, A. Jones, H. Gaspar, Lennart Hammarstrom, U. Baumann, K. Warnatz, A. Huissoon (2013)
Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patientsClinical & Experimental Immunology, 172
G. Fisher, Fredric Rosenberg, S. Straus, J. Dale, L. Middelton, A. Lin, W. Strober, M. Lenardo, J. Puck (1995)
Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndromeCell, 81
E. Haapaniemi, Meri Kaustio, H. Rajala, A. Adrichem, L. Kainulainen, V. Glumoff, R. Doffinger, H. Kuusanmäki, T. Heiskanen-kosma, L. Trotta, S. Chiang, P. Kulmala, S. Eldfors, Riku Katainen, S. Siitonen, M. Karjalainen‐Lindsberg, P. Kovanen, T. Otonkoski, K. Porkka, K. Heiskanen, A. Hänninen, Y. Bryceson, Raija Uusitalo-Seppälä, J. Saarela, M. Seppänen, S. Mustjoki, J. Kere (2015)
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.Blood, 125 4
Isabelle Isnardi, Yen-shing Ng, L. Menard, Greta Meyers, D. Saadoun, Iva Srdanovic, J. Samuels, J. Berman, J. Buckner, C. Cunningham-Rundles, E. Meffre (2010)
Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones.Blood, 115 24
C. Schuetz, K. Huck, S. Gudowius, M. Megahed, O. Feyen, B. Hubner, D. Schneider, B. Manfras, U. Pannicke, R. Willemze, R. Knüchel, U. Göbel, A. Schulz, A. Borkhardt, W. Friedrich, K. Schwarz, T. Niehues (2008)
An immunodeficiency disease with RAG mutations and granulomas.The New England journal of medicine, 358 19
N. Serwas, A. Kansu, E. Santos-Valente, Z. Kuloğlu, A. Demir, A. Yaman, Laura Diaz, R. Artan, E. Sayar, A. Ensari, B. Grimbacher, K. Boztug (2015)
Atypical Manifestation of LRBA Deficiency with Predominant IBD-like PhenotypeInflammatory Bowel Diseases, 21
B. Gathmann, N. Mahlaoui, L. Gérard, É. Oksenhendler, K. Warnatz, I. Schulze, G. Kindle, T. Kuijpers, R. Beem, D. Guzman, S. Workman, P. Soler-Palacín, J. Gracia, T. Witte, R. Schmidt, J. Litzman, E. Hlavackova, V. Thon, M. Borte, S. Borte, D. Kumararatne, C. Feighery, H. Longhurst, M. Helbert, A. Szaflarska, A. Šedivá, B. Belohradsky, A. Jones, U. Baumann, I. Meyts, N. Kutukculer, P. Wågström, Nermeen Galal, J. Roesler, E. Farmaki, N. Zinovieva, P. Ciznar, E. Papadopoulou-Alataki, K. Bienemann, S. Velbri, Z. Panahloo, B. Grimbacher (2014)
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.The Journal of allergy and clinical immunology, 134 1
C. Geier, Alexander Piller, Angela Linder, Kai Sauerwein, M. Eibl, H. Wolf (2015)
Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide AntigensPLoS ONE, 10
This group describes 13 patients from 10 families with germline gain-of-function mutations in STAT3, leading to lymphoproliferation and autoimmunity with prominent cytopenias
N. Clemente, E. Boggio, C. Gigliotti, E. Orilieri, G. Cappellano, E. Tóth, P. Valletti, C. Santoro, I. Quinti, C. Pignata, L. Notarangelo, C. Dianzani, I. Dianzani, U. Ramenghi, U. Dianzani, Andreas Chiocchetti (2015)
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferationGenes and Immunity, 16
J. Stockman (2013)
Morbidity and mortality in common variable immune deficiency over 4 decadesYearbook of Pediatrics, 2013
M. Fliegauf, V. Bryant, N. Frede, C. Slade, S. Woon, K. Lehnert, Sandra Winzer, A. Bulashevska, T. Scerri, E. Leung, A. Jordan, Baerbel Keller, E. Vries, H. Cao, Fangming Yang, A. Schäffer, K. Warnatz, P. Browett, J. Douglass, R. Ameratunga, J. Meer, B. Grimbacher (2015)
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.American journal of human genetics, 97 3
João Oliveira, J. Bleesing, U. Dianzani, T. Fleisher, E. Jaffe, M. Lenardo, F. Rieux-Laucat, Richard Siegel, Helen Su, D. Teachey, V. Rao (2010)
Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop.Blood, 116 14
K. Warnatz, U. Salzer, M. Rizzi, B. Fischer, S. Gutenberger, J. Böhm, Anne-Kathrin Kienzler, Q. Pan-Hammarström, L. Hammarström, M. Rakhmanov, M. Schlesier, B. Grimbacher, H. Peter, H. Eibel (2009)
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humansProceedings of the National Academy of Sciences, 106
M. Kreuzaler, Melanie Rauch, U. Salzer, Jennifer Birmelin, M. Rizzi, B. Grimbacher, A. Plebani, V. Lougaris, I. Quinti, V. Thon, J. Litzman, M. Schlesier, K. Warnatz, J. Thiel, A. Rolink, H. Eibel (2012)
Soluble BAFF Levels Inversely Correlate with Peripheral B Cell Numbers and the Expression of BAFF ReceptorsThe Journal of Immunology, 188
I. Angulo, O. Vadas, F. Garçon, E. Banham-Hall, V. Plagnol, T. Leahy, H. Baxendale, T. Coulter, J. Curtis, Changxing Wu, K. Blake-Palmer, O. Perisic, D. Smyth, Mailis Maes, C. Fiddler, J. Juss, D. Cilliers, G. Markelj, Anita Chandra, George Farmer, Anna Kielkowska, J. Clark, S. Kracker, M. Debré, C. Picard, I. Pellier, N. Jabado, James Morris, G. Barcenas-Morales, A. Fischer, L. Stephens, P. Hawkins, J. Barrett, M. Abinun, M. Clatworthy, A. Durandy, R. Doffinger, E. Chilvers, A. Cant, D. Kumararatne, K. Okkenhaug, Roger Williams, Alison Condliffe, S. Nejentsev (2013)
Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway DamageScience, 342
A. Giovannetti, M. Pierdominici, F. Mazzetta, M. Marziali, C. Renzi, A. Mileo, M. Felice, B. Mora, A. Esposito, R. Carello, A. Pizzuti, M. Paggi, R. Paganelli, W. Malorni, F. Aiuti (2007)
Unravelling the Complexity of T Cell Abnormalities in Common Variable Immunodeficiency1The Journal of Immunology, 178
T. Fleisher (2015)
Immune Dysregulation in Human Subjects With Heterozygous Germline Mutations in CTLA4Pediatrics, 136
P. Maglione, H. Ko, M. Beasley, J. Strauchen, C. Cunningham-Rundles (2014)
Tertiary lymphoid neogenesis is a component of pulmonary lymphoid hyperplasia in patients with common variable immunodeficiency.The Journal of allergy and clinical immunology, 133 2
S. Paccani, M. Boncristiano, L. Patrussi, C. Ulivieri, A. Wack, S. Valensin, T. Hirst, A. Amedei, G. Prete, J. Telford, M. D’Elios, C. Baldari (2005)
Defective Vav expression and impaired F-actin reorganization in a subset of patients with common variable immunodeficiency characterized by T-cell defects.Blood, 106 2
Yi-wen Liu, S. Hanson, P. Gurugama, Alison Jones, B. Clark, M. Ibrahim (2014)
Novel NFKB2 Mutation in Early-Onset CVIDJournal of Clinical Immunology, 34
Andrew Lindsley, Yaping Qian, C. Valencia, K. Shah, Kejian Zhang, A. Assa'ad (2014)
Combined Immune Deficiency in a Patient with a Novel NFKB2 MutationJournal of Clinical Immunology, 34
E. Salzer, E. Santos-Valente, Stefanie Klaver, Sol Ban, W. Emminger, Nina Prengemann, W. Garncarz, L. Müllauer, R. Kain, H. Boztug, A. Heitger, K. Arbeiter, F. Eitelberger, M. Seidel, W. Holter, A. Pollak, W. Pickl, E. Förster-Waldl, K. Boztug (2013)
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.Blood, 121 16
A. Alangari, A. Alsultan, N. Adly, M. Massaad, I. Kiani, A. Aljebreen, Emad Raddaoui, A. Almomen, S. Al‐Muhsen, R. Geha, F. Alkuraya (2012)
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.The Journal of allergy and clinical immunology, 130 2
C. Carter, G. Aravind, N. Smalle, J. Cole, S. Savic, P. Wood (2012)
CVID patients with autoimmunity have elevated T cell expression of granzyme B and HLA-DR and reduced levels of Treg cellsJournal of Clinical Pathology, 66
J. Aaltonen, P. Björses, J. Perheentupa, N. Horelli‐Kuitunen, A. Palotie, L. Peltonen, Y. Lee, F. Francis, Steffen Henning, Cora Thiel, Hans Leharach, M. Yaspo (1997)
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domainsNature Genetics, 17
H. Kuehn, J. Niemela, A. Rangel-Santos, Mingchang Zhang, S. Pittaluga, J. Stoddard, Ashleigh Hussey, Moses Evbuomwan, D. Priel, D. Kuhns, C. Park, T. Fleisher, G. Uzel, João Oliveira (2013)
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans.Blood, 121 16
E. Castigli, S. Wilson, L. Garibyan, R. Rachid, F. Bonilla, L. Schneider, M. Morra, J. Curran, R. Geha (2007)
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiencyNature Genetics, 39
J. Boursiquot, L. Gérard, M. Malphettes, C. Fieschi, L. Galicier, D. Boutboul, R. Borie, J. Viallard, Pauline Soulas-Sprauel, A. Bérézné, A. Jaccard, E. Hachulla, J. Haroche, N. Schleinitz, L. Têtu, É. Oksenhendler, T. group (2012)
Granulomatous Disease in CVID: Retrospective Analysis of Clinical Characteristics and Treatment Efficacy in a Cohort of 59 PatientsJournal of Clinical Immunology, 33
D. Punwani, Haopeng Wang, Alice Chan, M. Cowan, J. Mallott, Uma Sunderam, M. Mollenauer, Rajgopal Srinivasan, S. Brenner, A. Mulder, F. Claas, A. Weiss, J. Puck (2015)
Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell TransplantationJournal of Clinical Immunology, 35
M. McKinnon, J. Rozmus, S. Fung, A. Hirschfeld, K. Bel, L. Thomas, N. Marr, Spencer Martin, Ashish Marwaha, J. Priatel, R. Tan, C. Senger, A. Tsang, J. Prendiville, A. Junker, M. Seear, K. Schultz, L. Sly, R. Holt, M. Patel, J. Friedman, S. Turvey (2014)
Combined immunodeficiency associated with homozygous MALT1 mutations.The Journal of allergy and clinical immunology, 133 5
H. Jabara, Toshiro Ohsumi, J. Chou, M. Massaad, Halli Benson, A. Mégarbané, E. Chouery, R. Mikhael, O. Gorka, A. Gewies, P. Portalès, T. Nakayama, H. Hosokawa, P. Revy, H. Herrod, F. Deist, G. Lefranc, J. Ruland, R. Geha (2013)
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.The Journal of allergy and clinical immunology, 132 1
Joon-Hyeong Park, Indira Munagala, Hui Xu, D. Blankenship, Patrick Maffucci, D. Chaussabel, J. Banchereau, V. Pascual, C. Cunningham-Rundles (2013)
Interferon Signature in the Blood in Inflammatory Common Variable Immune DeficiencyPLoS ONE, 8
M. Zelm, J. Smet, B. Adams, F. Mascart, L. Schandené, F. Janssen, A. Ferster, C. Kuo, S. Levy, J. Dongen, M. Burg (2010)
CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency.The Journal of clinical investigation, 120 4
This retrospective study describes the clinical characteristics and treatment of 2212 CVID at 28 medical centers
M. Vlková, O. Tichá, J. Nechvatalova, T. Kalina, J. Litzman, C. Mauri, P. Blair (2015)
Regulatory B cells in CVID patients fail to suppress multifunctional IFN-γ+ TNF-α+ CD4+ T cells differentiation.Clinical immunology, 160 2
Juan Torres, Ruben Martinez-Barricarte, Sonia García-Gómez, Marina Mazariegos, Y. Itan, B. Boisson, Rita Rholvarez, Anaïs Jiménez-Reinoso, Lucia Pino, R. Rodríguez‐Pena, Antonio Ferreira, E. Hernández-Jiménez, V. Toledano, C. Cubillos-Zapata, M. Díaz-Almirón, E. López-Collazo, J. Unzueta-Roch, S. Sánchez-Ramón, J. Regueiro, E. López-Granados, J. Casanova, R. Diego (2014)
Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity.The Journal of clinical investigation, 124 12
Karin Chen, Wilfred Wu, D. Mathew, Yuhua Zhang, S. Browne, Lindsey Rosen, M. McManus, M. Pulsipher, M. Yandell, J. Bohnsack, L. Jorde, L. Notarangelo, J. Walter (2014)
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.The Journal of allergy and clinical immunology, 133 3
P. Stepensky, Baerbel Keller, Mary Buchta, Anne-Kathrin Kienzler, O. Elpeleg, R. Somech, Sivan Cohen, I. Shachar, L. Miosge, M. Schlesier, Ilka Fuchs, A. Enders, H. Eibel, B. Grimbacher, K. Warnatz (2013)
Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.The Journal of allergy and clinical immunology, 131 2
G. Arumugakani, P. Wood, C. Carter (2010)
Frequency of Treg Cells Is Reduced in CVID Patients with Autoimmunity and Splenomegaly and Is Associated with Expanded CD21lo B LymphocytesJournal of Clinical Immunology, 30
E. Rosser, C. Mauri (2015)
Regulatory B cells: origin, phenotype, and function.Immunity, 42 4
F. Varzaneh, Bärbel Keller, S. Unger, A. Aghamohammadi, K. Warnatz, N. Rezaei (2014)
Cytokines in Common Variable Immunodeficiency as Signs of Immune Dysregulation and Potential Therapeutic Targets – A Review of the Current KnowledgeJournal of Clinical Immunology, 34
E. Castigli, S. Wilson, L. Garibyan, R. Rachid, F. Bonilla, L. Schneider, R. Geha (2005)
TACI is mutant in common variable immunodeficiency and IgA deficiencyNature Genetics, 37
Siyoung Yang, N. Fujikado, D. Kolodin, C. Benoist, D. Mathis (2015)
Regulatory T cells generated early in life play a distinct role in maintaining self-toleranceScience, 348
The authors describe the clinical and immunological consequences of heterozygous mutations leading to dominant activation of PI3K in four patients
E. Higgins, Tariq Shehri, M. Mcaleer, N. Conlon, C. Feighery, D. Lilić, A. Irvine (2015)
Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation.The Journal of allergy and clinical immunology, 135 2
Christian Foerster, N. Voelxen, M. Rakhmanov, Baerbel Keller, S. Gutenberger, S. Goldacker, J. Thiel, S. Feske, H. Peter, K. Warnatz (2010)
B Cell Receptor-Mediated Calcium Signaling Is Impaired in B Lymphocytes of Type Ia Patients with Common Variable ImmunodeficiencyThe Journal of Immunology, 184
J. Greil, T. Rausch, T. Giese, O. Bandapalli, V. Daniel, I. Bekeredjian-Ding, A. Stütz, Christoph Drees, S. Roth, J. Ruland, J. Korbel, A. Kulozik (2013)
Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency.The Journal of allergy and clinical immunology, 131 5
Gaël Mouillot, M. Carmagnat, L. Gérard, J. Garnier, C. Fieschi, N. Vince, L. Karlin, J. Viallard, R. Jaussaud, J. Boileau, J. Donadieu, M. Gardembas, N. Schleinitz, F. Suarez, E. Hachulla, K. Delavigne, M. Morisset, S. Jacquot, N. Just, L. Galicier, D. Charron, P. Debré, É. Oksenhendler, C. Rabian, F. Group (2010)
B-Cell and T-Cell Phenotypes in CVID Patients Correlate with the Clinical Phenotype of the DiseaseJournal of Clinical Immunology, 30
C. Lucas, H. Kuehn, Fang Zhao, J. Niemela, E. Deenick, U. Palendira, D. Avery, Leen Moens, J. Cannons, M. Biancalana, J. Stoddard, W. Ouyang, D. Frucht, V. Rao, T. Atkinson, A. Agharahimi, Ashleigh Hussey, L. Folio, K. Olivier, T. Fleisher, S. Pittaluga, S. Holland, J. Cohen, J. Oliveira, S. Tangye, P. Schwartzberg, M. Lenardo, G. Uzel (2013)
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiencyNature Immunology, 15
M. Visentini, Ramona Marrapodi, Valentina Conti, M. Mitrevski, A. Camponeschi, C. Lazzeri, M. Carbonari, A. Catizone, I. Quinti, M. Fiorilli (2014)
Dysregulated extracellular signal-regulated kinase signaling associated with impaired B-cell receptor endocytosis in patients with common variable immunodeficiency.The Journal of allergy and clinical immunology, 134 2
(2014)
In this study, a comprehensive immune evaluation of a child with a novel NFKB2 mutation was performed. It was shown that aberrant NFKB2 signaling not only causes humoral immune deficiency
E. Bateman, L. Ayers, R. Sadler, M. Lucas, C. Roberts, A. Woods, K. Packwood, J. Burden, D. Harrison, N. Känzig, M. Lee, H. Chapel, B. Ferry (2012)
T cell phenotypes in patients with common variable immunodeficiency disorders: associations with clinical phenotypes in comparison with other groups with recurrent infectionsClinical & Experimental Immunology, 170
Michael Ombrello, E. Remmers, Guangping Sun, A. Freeman, Shrimati Datta, P. Torabi-Parizi, N. Subramanian, T. Bunney, R. Baxendale, M. Martins, N. Romberg, Hirsh Komarow, I. Aksentijevich, H. Kim, J. Ho, G. Cruse, M. Jung, A. Gilfillan, D. Metcalfe, Celeste Nelson, M. O'Brien, Laura Wisch, K. Stone, D. Douek, Chhavi Gandhi, A. Wanderer, Hane Lee, S. Nelson, K. Shianna, E. Cirulli, D. Goldstein, Eric Long, S. Moir, E. Meffre, S. Holland, D. Kastner, M. Katan, H. Hoffman, J. Milner (2012)
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.The New England journal of medicine, 366 4
R. Aspalter, M. Eibl, H. Wolf (2007)
Defective T-cell activation caused by impairment of the TNF receptor 2 costimulatory pathway in common variable immunodeficiency.The Journal of allergy and clinical immunology, 120 5
Bernice Lo, Kejian Zhang, Wei-Yu Lu, Lixin Zheng, Qian Zhang, C. Kanellopoulou, Yu Zhang, Zhiduo Liu, Jill Fritz, R. Marsh, Ammar Husami, Diane Kissell, Shannon Nortman, Vijaya Chaturvedi, H. Haines, L. Young, J. Mo, A. Filipovich, J. Bleesing, P. Mustillo, Michael Stephens, C. Rueda, C. Chougnet, K. Hoebe, J. McElwee, J. Hughes, E. Karakoc‐Aydiner, H. Matthews, S. Price, H. Su, V. Rao, M. Lenardo, M. Jordan (2015)
Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapyScience, 349
Resnick (2012)
Morbidity and mortality in common variable immune deficiency over 4 decades.Blood, 119
R. Diego, S. Sánchez-Ramón, E. López-Collazo, Ruben Martinez-Barricarte, C. Cubillos-Zapata, A. Cerdán, J. Casanova, A. Puel (2015)
Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity.The Journal of allergy and clinical immunology, 136 5
A. Liston, A. Enders, O. Siggs (2008)
Unravelling the association of partial T-cell immunodeficiency and immune dysregulationNature Reviews Immunology, 8
T. Vogel, J. Milner, M. Cooper (2015)
The Ying and Yang of STAT3 in Human DiseaseJournal of Clinical Immunology, 35
G. Uzel, E. Sampaio, M. Lawrence, A. Hsu, M. Hackett, M. Dorsey, R. Noel, J. Verbsky, A. Freeman, E. Janssen, F. Bonilla, J. Pechacek, Prabha Chandrasekaran, S. Browne, A. Agharahimi, A. Gharib, S. Mannurita, J. Yim, E. Gambineri, T. Torgerson, Dat Tran, Joshua Milner, S. Holland (2013)
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.The Journal of allergy and clinical immunology, 131 6
An excellent recent review on regulatory B cells
D. Gobert, J. Bussel, C. Cunningham-Rundles, L. Galicier, A. Dechartres, A. Bérézné, B. Bonnotte, T. Derevel, C. Auzary, R. Jaussaud, C. Larroche, A. Lequellec, M. Ruivard, P. Sève, A. Smail, J. Viallard, B. Godeau, O. Hermine, M. Michel (2011)
Efficacy and safety of rituximab in common variable immunodeficiency‐associated immune cytopenias: a retrospective multicentre study on 33 patientsBritish Journal of Haematology, 155
The authors describe LRBA deficiency as a cause of an IPEX-like syndrome
Deau (2014)
A human immunodeficiency caused by mutations in the PIK3R1 gene.J Clin Invest, 124
V. Lougaris, G. Tabellini, M. Vitali, M. Baronio, Ornella Patrizi, G. Tampella, A. Biasini, D. Moratto, S. Parolini, A. Plebani (2015)
Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease.The Journal of allergy and clinical immunology, 135 6
J. Milner, T. Vogel, L. Forbes, Chi Ma, A. Stray-Pedersen, J. Niemela, J. Lyons, Karin Engelhardt, Yu Zhang, Nermina Topcagic, Elisha Roberson, H. Matthews, J. Verbsky, T. Dasu, A. Vargas‐Hernández, N. Varghese, K. McClain, Lina Karam, K. Nahmod, G. Makedonas, E. Mace, H. Sorte, G. Perminow, V. Rao, M. O’Connell, S. Price, H. Su, Morgan Butrick, J. McElwee, J. Hughes, Joseph Willet, D. Swan, Yaobo Xu, M. Santibanez-Koref, Voytek Slowik, D. Dinwiddie, C. Ciaccio, C. Saunders, S. Septer, S. Kingsmore, Andrew White, A. Cant, S. Hambleton, M. Cooper (2015)
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.Blood, 125 4
Sujal Ghosh, K. Bienemann, K. Boztug, A. Borkhardt (2014)
Interleukin-2-Inducible T-Cell Kinase (ITK) Deficiency - Clinical and Molecular AspectsJournal of Clinical Immunology, 34
H. Chun, Lixin Zheng, Manzoor Ahmad, Jin Wang, Jin Wang, C. Speirs, R. Siegel, J. Dale, J. Puck, Joie Davis, C. Hall, S. Skoda-Smith, T. Atkinson, S. Straus, M. Lenardo (2002)
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiencyNature, 419
Miguel Park, James Li, J. Hagan, D. Maddox, R. Abraham (2008)
Common variable immunodeficiency: a new look at an old diseaseThe Lancet, 372
Marie-Céline Deau, L. Heurtier, P. Frange, F. Suarez, C. Bole-Feysot, P. Nitschké, M. Cavazzana, C. Picard, A. Durandy, A. Fischer, S. Kracker (2015)
A human immunodeficiency caused by mutations in the PIK3R1 gene.The Journal of clinical investigation, 125 4
G. López-Herrera, G. Tampella, Q. Pan-Hammarström, P. Herholz, C. Trujillo-Vargas, K. Phadwal, A. Simon, M. Moutschen, Amos Etzioni, A. Mory, I. Srugo, D. Melamed, K. Hultenby, Chonghai Liu, M. Baronio, M. Vitali, P. Philippet, V. Dideberg, A. Aghamohammadi, N. Rezaei, V. Enright, Likun Du, U. Salzer, H. Eibel, D. Pfeifer, H. Veelken, H. Stauss, V. Lougaris, A. Plebani, E. Gertz, A. Schäffer, L. Hammarström, B. Grimbacher (2012)
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.American journal of human genetics, 90 6
S. Sakaguchi, M. Miyara, C. Costantino, D. Hafler (2010)
FOXP3+ regulatory T cells in the human immune systemNature Reviews Immunology, 10
D. Schubert, C. Bode, R. Kenefeck, T. Hou, J. Wing, A. Kennedy, A. Bulashevska, B. Petersen, A. Schäffer, B. Grüning, S. Unger, N. Frede, U. Baumann, T. Witte, R. Schmidt, G. Dueckers, T. Niehues, S. Seneviratne, M. Kanariou, C. Speckmann, S. Ehl, A. Rensing-Ehl, K. Warnatz, M. Rakhmanov, R. Thimme, P. Hasselblatt, F. Emmerich, T. Cathomen, R. Backofen, P. Fisch, M. Seidl, A. May, A. Schmitt-Graeff, S. Ikemizu, U. Salzer, A. Franke, S. Sakaguchi, S. Lucy, Walker, D. Sansom, Bodo Grimbacher
Nature Medicine Advance Online Publication Autosomal Dominant Immune Dysregulation Syndrome in Humans with Ctla4 Mutations
U. Salzer, H. Chapel, A. Webster, Q. Pan-Hammarström, Annette Schmitt-Graeff, M. Schlesier, H. Peter, J. Rockstroh, P. Schneider, A. Schäffer, L. Hammarström, B. Grimbacher (2005)
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humansNature Genetics, 37
N. Shulzhenko, A. Morgun, William Hsiao, M. Battle, M. Yao, O. Gavrilova, M. Orandle, L. Mayer, A. Macpherson, K. McCoy, Claire Fraser-Liggett, P. Matzinger (2011)
Crosstalk between B lymphocytes, microbiota and the intestinal epithelium governs immunity versus metabolism in the gutNature Medicine, 17
Claudia Wehr, Teemu Kivioja, C. Schmitt, B. Ferry, T. Witte, Efrem Eren, M. Vlková, Manuel Hernández, D. Detková, Philip Bos, Gonke Poerksen, Horst Bernuth, U. Baumann, S. Goldacker, S. Gutenberger, M. Schlesier, Florence Cruyssen, Magali Garff, P. Debré, R. Jacobs, John Jones, E. Bateman, J. Litzman, P. Hagen, A. Plebani, Reinhold Schmidt, V. Thon, I. Quinti, Teresa Espanol, A. Webster, H. Chapel, M. Vihinen, É. Oksenhendler, Hans-Hartmut Peter, K. Warnatz (2008)
The EUROclass trial: defining subgroups in common variable immunodeficiency.Blood, 111 1
BCR internalization in B cells of patients with CVID and healthy controls was studied, showing defective BCR endocytosis in CVID that seems to be caused by dysregulated ERK signaling
D. Mansouri, S. Mahdaviani, S. Khalilzadeh, S. Mohajerani, M. Hasanzad, Saeed Sadr, S. Nadji, Shirin Karimi, A. Droodinia, Nima Rezaei, R. Linka, K. Bienemann, Arndt Borkhardt, M. Masjedi, A. Velayati (2012)
IL-2-Inducible T-Cell Kinase Deficiency with Pulmonary Manifestations due to Disseminated Epstein-Barr Virus InfectionInternational Archives of Allergy and Immunology, 158
C. Bennett, J. Christie, F. Ramsdell, M. Brunkow, P. Ferguson, L. Whitesell, T. Kelly, F. Saulsbury, P. Chance, H. Ochs (2001)
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3Nature Genetics, 27
Downloaded from http://journals.lww.com/co-allergy by BhDMf5ePHKbH4TTImqenVA5KvPVPZ0P5BEgU+IUTEfzO/GUWifn2IfwcEVVH9SSn on 06/02/2020 REVIEW URRENT The autoimmune conundrum in common variable PINION immunodeficiency disorders a b Annick A.J.M. van de Ven and Klaus Warnatz Purpose of review Autoimmune and inflammatory manifestations are the biggest clinical challenge in the care of patients with common variable immunodeficiency (CVID). The increasing pathogenic knowledge and potential therapeutic implications require a new evaluation of the status quo. Recent findings The conundrum of the simultaneous manifestation of primary immunodeficiency and autoimmune disease (AID) is increasingly elucidated by newly discovered genetic defects. Thus, cytotoxic T lymphocyte-associated antigen 4 or caspase-9 deficiency presenting with CVID-like phenotypes reiterate concepts of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and autoimmune lymphoproliferative syndrome. Activating signaling defects downstream of antigen or cytokine receptors are often associated with loss-of-tolerance in the affected patients. Increasingly, forms of combined immunodeficiency are discovered among CVID-like patients. Although different autoimmune manifestations often coincide in the same patient their immunopathology varies. Treatment of AID in CVID remains a challenge, but based on a better definition of the immunopathology first attempts of targeted treatment have been made. Summary The increasing comprehension of immunological concepts promoting AID in CVID will allow better and in some cases
Current Opinion in Allergy & Clinical Immunology – Wolters Kluwer Health
Published: Dec 1, 2015
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