Search

Your search keyword '"Klouwer, Femke C.C."' showing total 10 results
Start Over Author "Klouwer, Femke C.C."
10 results on '"Klouwer, Femke C.C."'

2. Neurological phenotype of adenosine deaminase 2 deficient patients:a cohort study

Author

Verschoof, Merelijne A., van Meenen, Laura C.C., Andriessen, M. Valérie E., Brinkman, Daniëlle M.C., Kamphuis, Sylvia, Kuijpers, Taco W., Leavis, Helen L., Legger, G. Elizabeth, Mulders-Manders, Catharina M., de Pagter, Anne P.J., Rutgers, Abraham, van Well, Gijs T.J., Coutinho, Jonathan M., Hak, A. Elisabeth, van Montfrans, Joris M., Klouwer, Femke C.C., Verschoof, Merelijne A., van Meenen, Laura C.C., Andriessen, M. Valérie E., Brinkman, Daniëlle M.C., Kamphuis, Sylvia, Kuijpers, Taco W., Leavis, Helen L., Legger, G. Elizabeth, Mulders-Manders, Catharina M., de Pagter, Anne P.J., Rutgers, Abraham, van Well, Gijs T.J., Coutinho, Jonathan M., Hak, A. Elisabeth, van Montfrans, Joris M., and Klouwer, Femke C.C.

Published
2024

5. Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort

Author

Andriessen, Marie Valérie E., Legger, G. Elizabeth, Bredius, Robbert G.M., van Gijn, Marielle E., Hak, A. Elisabeth, Muller, Petra C.E.Hissink, Kamphuis, Sylvia, Klouwer, Femke C.C., Kuijpers, Taco W., Leavis, Helen L., Nierkens, Stefan, Rutgers, Abraham, van der Veken, Lars T., van Well, Gijs T.J., Mulders-Manders, Catharina M., van Montfrans, Joris M., Andriessen, Marie Valérie E., Legger, G. Elizabeth, Bredius, Robbert G.M., van Gijn, Marielle E., Hak, A. Elisabeth, Muller, Petra C.E.Hissink, Kamphuis, Sylvia, Klouwer, Femke C.C., Kuijpers, Taco W., Leavis, Helen L., Nierkens, Stefan, Rutgers, Abraham, van der Veken, Lars T., van Well, Gijs T.J., Mulders-Manders, Catharina M., and van Montfrans, Joris M.

Abstract

Deficiency of adenosine deaminase-2 (DADA2) is an autosomal recessive autoinflammatory disease with an extremely variable disease presentation. This paper provides a comprehensive overview of the Dutch DADA2 cohort. We performed a retrospective cohort study in 29 ADA2-deficient patients from 23 families with a median age at inclusion of 26 years. All patients had biallelic pathogenic variants in the ADA2 gene. The most common clinical findings included cutaneous involvement (79.3%), (hepato)splenomegaly (70.8%) and recurrent infections (58.6%). Stroke was observed in 41.4% of the patients. The main laboratory abnormalities were hypogammaglobulinemia and various cytopenias. Patients presented most often with a mixed phenotype involving vasculopathy, immunodeficiency and hematologic manifestations (62.1%). In this cohort, malignancies were reported in eight patients (27.6%), of whom five presented with a hematologic malignancy and two with a basal cell carcinoma. Four patients developed hemophagocytic lymphohistiocytosis (HLH) or an HLH-like episode, of whom three passed away during or shortly after the occurrence of HLH. TNF-inhibitors (TNFi) were effective in treating vasculopathy-associated symptoms and preventing stroke, but were hardly effective in the treatment of hematologic manifestations. Three patients underwent hematopoietic cell transplantation and two of them are doing well with complete resolution of DADA2-related symptoms. The overall mortality in this cohort was 17.2%. In conclusion, this cohort describes the clinical, genetic and laboratory findings of 29 Dutch DADA2 patients. We describe the occurrence of HLH as a life-threatening disease complication and report a relatively high incidence of malignancies and mortality.

Published
2023

6. Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement

Author

Research UMC Utrecht, Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Lee, Pui Y., Davidson, Brad A., Abraham, Roshini S., Alter, Blanche, Arostegui, Juan I., Bell, Katherine, Belot, Alexandre, Bergerson, Jenna R.E., Bernard, Timothy J., Brogan, Paul A., Berkun, Yackov, Deuitch, Natalie T., Dimitrova, Dimana, Georgin-Lavialle, Sophie A., Gattorno, Marco, Grimbacher, Bodo, Hashem, Hasan, Hershfield, Michael S., Ichord, Rebecca N., Izawa, Kazushi, Kanakry, Jennifer A., Khubchandani, Raju P., Klouwer, Femke C.C., Luton, Evan A., Man, Ada W., Meyts, Isabelle, Van Montfrans, Joris M., Ozen, Seza, Saarela, Janna, Santo, Gustavo C., Sharma, Aman, Soldatos, Ariane, Sparks, Rachel, Torgerson, Troy R., Uriarte, Ignacio Leandro, Youngstein, Taryn A.B., Zhou, Qing, Aksentijevich, Ivona, Kastner, Daniel L., Chambers, Eugene P., Ombrello, Amanda K., Research UMC Utrecht, Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Lee, Pui Y., Davidson, Brad A., Abraham, Roshini S., Alter, Blanche, Arostegui, Juan I., Bell, Katherine, Belot, Alexandre, Bergerson, Jenna R.E., Bernard, Timothy J., Brogan, Paul A., Berkun, Yackov, Deuitch, Natalie T., Dimitrova, Dimana, Georgin-Lavialle, Sophie A., Gattorno, Marco, Grimbacher, Bodo, Hashem, Hasan, Hershfield, Michael S., Ichord, Rebecca N., Izawa, Kazushi, Kanakry, Jennifer A., Khubchandani, Raju P., Klouwer, Femke C.C., Luton, Evan A., Man, Ada W., Meyts, Isabelle, Van Montfrans, Joris M., Ozen, Seza, Saarela, Janna, Santo, Gustavo C., Sharma, Aman, Soldatos, Ariane, Sparks, Rachel, Torgerson, Troy R., Uriarte, Ignacio Leandro, Youngstein, Taryn A.B., Zhou, Qing, Aksentijevich, Ivona, Kastner, Daniel L., Chambers, Eugene P., and Ombrello, Amanda K.

Published
2023

8. Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

Author

Pathologie Algemene Pat.zorg, UMC Utrecht, Pathologie Pathologen staf, Cancer, Berendse, Kevin, Koot, Bart G.P., Klouwer, Femke C.C., Engelen, Marc, Roels, Frank, Lacle, Miangela M., Nikkels, Peter G.J., Verheij, Joanne, Poll-The, Bwee Tien, Pathologie Algemene Pat.zorg, UMC Utrecht, Pathologie Pathologen staf, Cancer, Berendse, Kevin, Koot, Bart G.P., Klouwer, Femke C.C., Engelen, Marc, Roels, Frank, Lacle, Miangela M., Nikkels, Peter G.J., Verheij, Joanne, and Poll-The, Bwee Tien

Published
2019

Catalog

Books, media, physical & digital resources
See catalog results