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7 results on '"Erichsen, H. C."'

1. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Author

Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M., Cont, F., Merli, P., Pastore, A., Mortera, S. L., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Horne, A. C., Bryceson, Y. T., Torralba-Raga, L., Ramme, K., Rosti, V., Bracaglia, C., Messia, V., Palma, P., Finocchi, A., Locatelli, Franco, Chinn, I. K., Lupski, J. R., Mace, E. M., Cancrini, C., Aiuti, A., Ahmadian, M. R., Orange, J. S., De Benedetti, F., Tartaglia, M., Locatelli F. (ORCID:0000-0002-7976-3654), Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M., Cont, F., Merli, P., Pastore, A., Mortera, S. L., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Horne, A. C., Bryceson, Y. T., Torralba-Raga, L., Ramme, K., Rosti, V., Bracaglia, C., Messia, V., Palma, P., Finocchi, A., Locatelli, Franco, Chinn, I. K., Lupski, J. R., Mace, E. M., Cancrini, C., Aiuti, A., Ahmadian, M. R., Orange, J. S., De Benedetti, F., Tartaglia, M., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C) and altered hematopoietic compartment, immune dysregulation, and inflammation. CDC42 mutations had been associated with syndromic neurodevelopmental disorders. In vitro and in vivo assays documented unique effects of p.R186C on CDC42 localization and function, correlating with the distinctiveness of the trait. Emapalumab was critical to the survival of one patient, who underwent successful bone marrow transplantation. Early recognition of the disorder and establishment of treatment followed by bone marrow transplant are important to survival.

Published
2019

4. Characterization of the genomic structure of the human vitamin C transporter SVCT1 (SLC23A2).

Author

Erichsen, Hans Christian, Eck, Peter, Levine, Mark, Chanock, Stephen, Erichsen, H C, Eck, P, Levine, M, and Chanock, S

Subjects
GENETIC code, GENETIC transcription, DOCUMENTATION, GENETIC polymorphisms, HUMAN genome, MEMBRANE proteins, NUCLEOTIDES, PROTEINS, ION transport (Biology)
Abstract

Vitamin C (L-ascorbic acid), a critical cofactor for intracellular enzymatic reactions, functions as a scavenger of free oxygen radicals and is an essential micronutrient. Vitamin C is actively transported into cells by one of two closely related sodium-dependent transporters, SVCT1 or SVCT2. In this paper, we report the complete sequencing and gene structure of SLC23A2, the gene encoding SVCT1. The1797-bp cDNA sequence (open reading frame) of the SLC23A2 gene was derived from a compact genomic sequence of 7966 bp [translation initiation codon (ATG) to poly A tail], which is divided into 14 exons. Furthermore, repetitive or masked elements constituted 17.98% of the gene; there were 4 Alu sequences and 5 MIR (Mammalian Interspersed Repetitive element) sequences. A search for common variants in SLC23A2, using current bioinformatic tools and direct resequencing of control populations, failed to identify common single nucleotide polymorphisms. The start of transcription was mapped to a position -47 relative to the ATG; the immediate 5' sequence was determined and analyzed for possible consensus binding sites for known transcription factors. Our findings will serve as the foundation for investigation of the regulation and expression of the tissue-specific sodium-dependent vitamin C transporter, SLC23A2. [ABSTRACT FROM AUTHOR]

Published
2001
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5. A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

Author

Jovanka R King, Cristina Bottino, Patrick Quinn, Alexander Blank, Asbjørg Stray-Pedersen, Michael Gold, Ulrich Pannicke, Emily M. Mace, Lisa R. Forbes, Marwan Abu-Halaweh, Eva-Maria Jacobsen, Anton T.J. Tool, Sabrina Chiesa, Roberta Caorsi, Marco Gattorno, Silvia Giliani, Stefano Volpi, Jordan S. Orange, Ivan K. Chinn, Taco W. Kuijpers, Immacolata Brigida, Hamid Ahanchian, Paul Tuijnenburg, Federica Barzaghi, Bertrand Boisson, Zeynep Coban Akdemir, Gregor Dückers, Chris Pearson, Machiel H. Jansen, Alexander B. Meijer, Maria Pia Cicalese, Ansgar Schulz, Filiz O. Seeborg, Eloy Cuadrado, Hasan Tawamie, Ehsan Ghayoor Karimiani, Jean-Laurent Casanova, Raed Alzyoud, Tomasz Gambin, Stefania Marcenaro, Luigi D. Notarangelo, Anselm Enders, Rae S. M. Yeung, Klaus Schwarz, Reza Maroofian, Hans Christian Erichsen, Paolo Picco, Ester M. M. van Leeuwen, Tim Niehues, Ronald M. Laxer, James R. Lupski, Alessandro Aiuti, APH - Aging & Later Life, Volpi, S., Cicalese, M. P., Tuijnenburg, P., Tool, A. T. J., Cuadrado, E., Abu-Halaweh, M., Ahanchian, H., Alzyoud, R., Akdemir, Z. C., Barzaghi, F., Blank, A., Boisson, B., Bottino, C., Brigida, I., Caorsi, R., Casanova, J. -L., Chiesa, S., Chinn, I. K., Duckers, G., Enders, A., Erichsen, H. C., Forbes, L. R., Gambin, T., Gattorno, M., Karimiani, E. G., Giliani, S., Gold, M. S., Jacobsen, E. -M., Jansen, M. H., King, J. R., Laxer, R. M., Lupski, J. R., Mace, E., Marcenaro, S., Maroofian, R., Meijer, A. B., Niehues, T., Notarangelo, L. D., Orange, J., Pannicke, U., Pearson, C., Picco, P., Quinn, P. J., Schulz, A., Seeborg, F., Stray-Pedersen, A., Tawamie, H., van Leeuwen, E. M. M., Aiuti, A., Yeung, R., Schwarz, K., Kuijpers, T. W., Graduate School, Experimental Immunology, Paediatric Infectious Diseases / Rheumatology / Immunology, Landsteiner Laboratory, and ARD - Amsterdam Reproduction and Development

Subjects
Inflammation, Allergy, ARPC1B, Combined immunodeficiency, Infection, Thrombocytopenia, Extramural, business.industry, Immunology, medicine.disease, Immunologic Deficiency Syndromes, Article, Mutation (genetic algorithm), medicine, Immunology and Allergy, Infections inflammation, medicine.symptom, business, Immunodeficiency
Abstract

We report the natural history, clinical manifestations, genetics, and immunohematological findings in 14 patients from 11 families with ARPC1B deficiency, delineating the spectrum of the disease that appears progressive and challenging to manage clinically.

Published
2019
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6. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Author

Immacolata Brigida, Lamberto Torralba-Raga, Radovan Dvorsky, Silvia Di Cesare, Andrea Finocchi, AnnaCarin Horne, Ivan K. Chinn, Serena Scala, Simone Martinelli, Antonia Pascarella, Asbjørg Stray-Pedersen, Erika Zara, Marco Tartaglia, Emily M. Mace, Franco Locatelli, Luca Pannone, Stefano Levi Mortera, Claudia Bracaglia, Giusi Prencipe, Mohammad Akbarzadeh, Paolo Palma, Petra Janning, Anna Pastore, Rita Carsetti, Mohammad Reza Ahmadian, Fabrizio De Benedetti, Michael R. Diehl, Petra Netter, Shalini N. Jhangiani, Richard A. Gibbs, Caterina Cancrini, Tram N. Cao, James R. Lupski, Alexandre F. Carisey, Vittorio Rosti, Pietro Merli, Alessandro Aiuti, Zeynep H. Coban-Akdemir, Donna M. Muzny, Yenan T. Bryceson, Francesca Pantaleoni, Martina Di Rocco, Serena Camerini, Marcello Niceta, Virginia Messia, Cristina Cifaldi, Marcel Buchholzer, Andrea Ciolfi, Michael T. Lam, Hans Christian Erichsen, Antonella Insalaco, Kim Ramme, Oliver H.F. Krumbach, Francesca Conti, Luca Basso-Ricci, Simona Coppola, Jordan S. Orange, Maria Chiriaco, Lorenza Putignani, Luciapia Farina, Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M., Conti, F., Merli, P., Pastore, A., Levi Mortera, S., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Horne, A., Bryceson, Y. T., Torralba-Raga, L., Ramme, K., Rosti, V., Bracaglia, C., Messia, V., Palma, P., Finocchi, A., Locatelli, F., Chinn, I. K., Lupski, J. R., Mace, E. M., Cancrini, C., Aiuti, A., Ahmadian, M. R., Orange, J. S., De Benedetti, F., and Tartaglia, M.

Subjects
Male, Models, Molecular, 0301 basic medicine, Molecular Conformation, medicine.disease_cause, Mice, 0302 clinical medicine, Immunology and Allergy, Child, cdc42 GTP-Binding Protein, Research Articles, Mutation, Rash, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Cdc42 GTP-Binding Protein, 030220 oncology & carcinogenesis, Female, Disease Susceptibility, biological phenomena, cell phenomena, and immunity, medicine.symptom, Protein Binding, HLH, Genotype, Immunology, Inflammation, macromolecular substances, Lymphohistiocytosis, Hemophagocytic, Article, 03 medical and health sciences, Immune system, Cell Line, Tumor, medicine, Animals, Humans, Alleles, Genetic Association Studies, Cytopenia, Hemophagocytic lymphohistiocytosis, Binding Sites, business.industry, Infant, Immune dysregulation, CDC42, dyshematopoiesis, inflammation, RHO-GTPase, medicine.disease, 030104 developmental biology, Amino Acid Substitution, business
Abstract

Lam et al. characterize a novel hematological/autoinflammatory disorder due to a de novo recurrent missense mutation of CDC42. The authors use in silico, in vitro, and in vivo analyses to correlate the molecular mechanisms altering CDC42 function to the observed phenotype., Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C) and altered hematopoietic compartment, immune dysregulation, and inflammation. CDC42 mutations had been associated with syndromic neurodevelopmental disorders. In vitro and in vivo assays documented unique effects of p.R186C on CDC42 localization and function, correlating with the distinctiveness of the trait. Emapalumab was critical to the survival of one patient, who underwent successful bone marrow transplantation. Early recognition of the disorder and establishment of treatment followed by bone marrow transplant are important to survival., Graphical Abstract

Published
2019

7. Polymorphisms in inflammatory cytokines and Fcgamma receptors in childhood chronic immune thrombocytopenic purpura: a pilot study.

Author

Foster CB, Zhu S, Erichsen HC, Lehrnbecher T, Hart ES, Choi E, Stein S, Smith MW, Steinberg SM, Imbach P, Kühne T, and Chanock SJ

Subjects
Case-Control Studies, Chi-Square Distribution, Child, Chronic Disease, Confidence Intervals, Genotype, Humans, Leukotriene A4 genetics, Odds Ratio, Pilot Projects, Purpura, Thrombocytopenic, Idiopathic immunology, Tumor Necrosis Factor-alpha genetics, Cytokines genetics, Polymorphism, Genetic, Purpura, Thrombocytopenic, Idiopathic genetics, Receptors, IgG genetics
Abstract

Inflammatory cytokines and low-affinity Fcgamma receptor (FcgammaR) polymorphisms were investigated in 37 children with chronic immune thrombocytopenic purpura (cITP) and 218 controls. Genotype analysis included common variants in the regulatory regions of cytokines, TNF, LTA, IL1RN, IL1A, IL1B, IL4, IL6 and IL10, and structural variants of the low affinity FcgammaRs, FCGR2A, FCGR3A and FCGR3B. Associations were observed for TNF (P = 0.0032), LTA (P = 0.019), FCGR3A (P = 0.038) and FCGR3B (P = 0.0034). Two combinations of genotypes (TNF and FCGR3A; P = 0.0003, and LTA and FCGR3B; P = 0.011) were significantly associated with cITP. These results provide preliminary evidence that variant genotypes of FcgammaRs and cytokines contribute to cITP pathogenesis.

Published
2001
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