Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding

por Zondag, Timo C. E., Torralba-Raga, Lamberto, Van Laar, Jan A. M., Hermans, Maud A. W., Bouman, Arjen, Hollink, Iris H. I. M., Van Hagen, P. Martin, Briggs, Deborah A., Hume, Alistair N., Bryceson, Yenan T.
Publicado 2022

Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies

por Coopmans, Eva C., Chunharojrith, Paweena, Neggers, Sebastian J. C. M. M., van der Ent, Marianne W., Swagemakers, Sigrid M. A., Hollink, Iris H., Barendregt, Barbara H., van der Spek, Peter J., van der Lely, Aart-Jan, van Hagen, P. Martin, Dalm, Virgil A. S. H.
Publicado 2019

Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

por Van Opstal, Diane, Eggenhuizen, Geerke M., Joosten, Marieke, Diderich, Karin, Govaerts, Lutgarde, Galjaard, Robert‐Jan, Go, Attie, Knapen, Maarten, Boter, Marjan, Cheung, Wai Y., van Koetsveld, Nicole, van Veen, Stefanie, de Valk, Walter G., Jehee, Fernanda, de Vries, Femke, Hollink, Iris, Hoefsloot, Lies, Srebniak, Malgorzata
Publicado 2020

Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis

por Zhou, Zijun, Hollink, Iris H. I. M., Bouman, Arjan, Lourens, Mirthe S., Brooimans, Rik A., van Ham, Tjakko J., Fraaij, Pieter L. A., van Rossum, Annemarie M. C., Zijtregtop, Eline A. M., Dik, Willem A., Dalm, Virgil A. S. H., van Hagen, P. Martin, Ijspeert, Hanna, Vermont, Clementien L.
Publicado 2022

Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis

por Joosse, Maria E., Charbit-Henrion, Fabienne, Boisgard, Remy, Raatgeep, Rolien (H.) C., Lindenbergh-Kortleve, Dicky J., Costes, Léa M. M., Nugteren, Sandrine, Guegan, Nicolas, Parlato, Marianna, Veenbergen, Sharon, Malan, Valérie, Nowak, Jan K., Hollink, Iris H. I. M., Mearin, M. Luisa, Escher, Johanna C., Cerf-Bensussan, Nadine, Samsom, Janneke N.
Publicado 2021

Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

por Blom, Maartje, Bredius, Robbert G. M., Jansen, Marleen E., Weijman, Gert, Kemper, Evelien A., Vermont, Clementien L., Hollink, Iris H. I. M., Dik, Willem A., van Montfrans, Joris M., van Gijn, Mariëlle E., Henriet, Stefanie S., van Aerde, Koen J., Koole, Wouter, Lankester, Arjan C., Dekkers, Eugènie H. B. M., Schielen, Peter C. J. I., de Vries, Martine C., Henneman, Lidewij, van der Burg, Mirjam
Publicado 2020

Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Ge...

por Elsink, Kim, Huibers, Manon M. H., Hollink, Iris H. I. M., Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Veken, Lars T., Leavis, Helen L., Henriet, Stefanie S. V., van Deuren, Marcel, van de Veerdonk, Frank L., Potjewijd, Judith, Berghuis, Dagmar, Dalm, Virgil A. S. H., Vermont, Clementien L., van de Ven, Annick A. J. M., Lambeck, Annechien J. A., Abbott, Kristin M., van Hagen, P. Martin, de Bree, Godelieve J., Kuijpers, Taco W., Frederix, Geert W. J., van Gijn, Mariëlle E., van Montfrans, Joris M.
Publicado 2021

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

por Williams, Lloyd B., Javed, Asif, Sabri, Amin, Morgan, Denise J., Huff, Chad D., Grigg, John R., Heng, Xiu Ting, Khng, Alexis J., Hollink, Iris H. I. M., Morrison, Margaux A., Owen, Leah A., Anderson, Katherine, Kinard, Krista, Greenlees, Rebecca, Novacic, Danica, Nida Sen, H., Zein, Wadih M., Rodgers, George M., Vitale, Albert T., Haider, Neena B., Hillmer, Axel M., Ng, Pauline C., Shankaracharya, Cheng, Anson, Zheng, Linda, Gillies, Mark C., van Slegtenhorst, Marjon, van Hagen, P. Martin, Missotten, Tom O. A. R., Farley, Gary L., Polo, Michael, Malatack, James, Curtin, Julie, Martin, Frank, Arbuckle, Susan, Alexander, Stephen I., Chircop, Megan, Davila, Sonia, Digre, Kathleen B., Jamieson, Robyn V., DeAngelis, Margaret M.
Publicado 2019