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5 results on '"Corry M.R. Weemaes"'

1. Contributors

Author

Michael S. Abers, Daria V. Babushok, Mark Ballow, Bertrand Boisson, Vincent Robert Bonagura, Francisco A. Bonilla, João Bosco de Oliveira Filho, Kaan Boztug, Lori Broderick, Manish J. Butte, Fabio Candotti, Jean-Laurent Casanova, Shanmuganathan Chandrakasan, Antonio Condino-Neto, Yanick J. Crow, Charlotte Cunningham-Rundles, Virgil A.S.H. Dalm, Adriana A. de Jesus, Emma de Maio, Geneviève de Saint Basile, Esther de Vries, Inderjeet Dokal, Christopher J.A. Duncan, A. Durandy, Stephan Ehl, Amos Etzioni, Polly J. Ferguson, Thomas A. Fleisher, Lisa R. Forbes-Satter, Michael M. Frank, Alexandra F. Freeman, Marie-Louise Frémond, John W. Frew, Mathieu Fusaro, Eleonora Gambineri, Rebecca D. Ganetzky, Andrew R. Gennery, Raphaela Goldbach-Mansky, Amy C. Goldstein, John M. Graham, Stephanie E. Gupton, Elie Haddad, Sophie Hambleton, Eric P. Hanson, Jennifer Heimall, Miep Helfrich, Sarah E. Henrickson, Steven M. Holland, Amy P. Hsu, Soma Jyonouchi, Sara Kashef, Judith Kelsen, Maya Khalil, Christoph Klein, Lisa Kobrynski, Donald B. Kohn, S. Kracker, James G. Krueger, Pascal M. Lavoie, Heather K. Lehman, Jennifer W. Leiding, Michael J. Lenardo, Ofer Levy, Allison Pecha Lim, Michail S. Lionakis, Andrea Lisco, Vassilios Lougaris, Saul O. Lugo Reyes, M. Louise Markert, Rebecca A. Marsh, Elizabeth A. McCarthy, Isabelle Meyts, Cinzia Milito, Joshua D. Milner, Jeffrey E. Ming, Despina Moshous, Ludmila Müller, Kristina Navrazhina, Kim E. Nichols, Luigi D. Notarangelo, Eric Oksenhendler, Jordan S. Orange, Roberto Paganelli, Graham Pawelec, Tancredi Massimo Pentimalli, Elena E. Perez, Capucine Picard, Alessandro Plebani, Oscar Porras, Amanda C. Przespolewski, Anne Puel, Federica Pulvirenti, Isabella Quinti, Nima Rezaei, Ger T. Rijkers, David Walter Rosenthal, Sergio D. Rosenzweig, Brahm H. Segal, Mikko R.J. Seppänen, Irini Sereti, Anna Shcherbina, Cristina Sobacchi, Jacqueline D. Squire, Polina Stepensky, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Gulbu Uzel, Mirjam van der Burg, Anna Villa, Jean-Pierre de Villartay, Klaus Warnatz, Richard L. Wasserman, Corry M.R. Weemaes, Joyce E. Yu, Shen-Ying Zhang, and John B. Ziegler

Published
2020

2. Epigenetic syndromes with immune deficiency

Author

Kathleen E. Sullivan and Corry M.R. Weemaes

Subjects
Genetics, Immune system, Concordance, medicine, Epigenetics, Biology, medicine.symptom, Short stature, Chromatin
Abstract

There is a growing recognition that many syndromes and metabolic disorders have a component of immune deficiency. The set of conditions detailed in this chapter all have dysmorphic features, developmental delay and are all due to altered chromatin, the structural aspect of DNA. Although some features are discordant, all the syndromes have a relatively high concordance for many features. In all, the humoral immune system is predominantly affected and the patients exhibit short stature, developmental delay, and dental defects with high frequency.

Published
2020

3. Isotype defects

Author

Mirjam van der Burg, Corry M.R. Weemaes, and Charlotte Cunningham-Rundles

Subjects
IgG subclass deficiency, biology, Immunology, biology.protein, medicine, Antibody, Selective IgA deficiency, medicine.disease, Primary and secondary antibodies, Isotype, Subclass, Peripheral blood, Structure and function
Abstract

Isotype defects are defined as partial antibody deficiencies in which only one immunoglobulin (Ig) isotype or one Ig isotype subclass is lacking. In these patients the absolute numbers of peripheral blood B cells are normal (in contrast to other primary antibody deficiencies described in previous chapters). After a brief overview of structure and function of immunoglobulins, the six disorders caused by isotype defects will be introduced and described in individual sections of this chapter.

Published
2020

4. List of Contributors

Author

Mark Ballow, Mohamed-Ridha Barbouche, Vincent R. Bonagura, Francisco A. Bonilla, Sarah K. Browne, Fabio Candotti, Magda Carneiro-Sampaio, Talal A. Chatila, Yanick J. Crow, Charlotte Cunningham-Rundles, Rebeca Pérez de Diego, Adriana A. de Jesus, Geneviève de Saint Basile, Esther de Vries, Inderjeet Dokal, Anne Durandy, Stephan Ehl, Robert Eisenberg, Brian Eley, Amos Etzioni, Polly J. Ferguson, Thomas A. Fleisher, Michael M. Frank, Alexandra F. Freeman, Eleonora Gambineri, Benjamin Gathmann, Raif S. Geha, Andrew R. Gennery, Erik-Oliver Glocker, Raphaela Goldbach-Mansky, John M. Graham, Bodo Grimbacher, Elie Haddad, Sophie Hambleton, Suheir Hanna, Steven M. Holland, Jean-Pierre de Villartay, Sara Kashef, Christoph Klein, Donald B. Kohn, Sven Kracker, Yu-Lung Lau, Pamela Lee, Heather Lehman, Jennifer W. Leiding, Lily E. Leiva, Michael J. Lenardo, Arnold I. Levinson, Robert Y. Lin, Vassilios Lougaris, M. Louise Markert, Rebecca A. Marsh, László Maródi, David H. McDermott, Douglas R. McDonald, Stephen J. McGeady, Joshua D. Milner, Jeffrey E. Ming, Despina Moshous, Ludmila Müller, Kim E. Nichols, Luigi D. Notarangelo, Hans Ochs, João Bosco Oliveira, Jordan S. Orange, Roberto Paganelli, Graham Pawelec, Elena E. Perez, Alessandro Plebani, Oscar Porras, Jennifer M. Puck, Isabella Quinti, Nima Rezaei, Carlos Rodríguez-Gallego, Sergio D. Rosenzweig, John M. Routes, Irini Sereti, Ricardo U. Sorensen, Carsten Speckmann, Helen C. Su, Kathleen E. Sullivan, M. Teresa de la Morena, Troy Torgerson, James Treat, Mirjam van der Burg, Silvère M. van der Maarel, James W. Verbsky, Anna Villa, Klaus Warnatz, Corry M.R. Weemaes, Hale Yarmohammadi, Joyce E. Yu, John B. Ziegler, and Heddy Zola

Published
2014

5. Centromeric Instability in ICF Syndrome

Author

Silvère M. van der Maarel and Corry M.R. Weemaes

Subjects
Pathology, medicine.medical_specialty, DNMT3B, Disease, Biology, medicine.disease, Hypogammaglobulinemia, Intellectual disability, medicine, Epigenetics, Hypertelorism, medicine.symptom, Centromeric instability, Immunodeficiency
Abstract

Centromeric instability is the genetic hallmark of immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome, a rare autosomal recessive disease clinically characterized by variable combined immune deficiency, centromeric instability of chromosomes 1, 9, and 16, and facial anomalies. Mutations in two genes have been found to cause ICF syndrome, DNMT3B (ICF1) and ZBTB24 (ICF2), while in some patients the gene defect has not yet been identified. ICF1 and ICF2 patients share the same facial anomalies, especially epicanthic folds, hypertelorism, flat nasal bridge and low-set ears, and epigenetic features, including hypomethylation of juxtacentromeric repeat sequences. Intellectual disability and congenital malformations have been demonstrated in some patients, with intellectual disability being more prominent in ICF2 patients. Agammaglobulinemia and hypogammaglobulinemia in the presence of B cells are the most prominent immune defects. Patients suffer from respiratory and gastrointestinal infections, and sometimes from opportunistic infections.

Published
2014

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