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Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies
Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies
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Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

Nijman, Isaac J., PhD ; van Montfrans, Joris M., MD, PhD ; Hoogstraat, Marlous, BAS ; Boes, Marianne L., PhD ; van de Corput, Lisette, PhD ; Renner, Ellen D., MD, PhD ; van Zon, Patrick, BSc ; van Lieshout, Stef, BSc ; Elferink, Martin G., PhD ; van der Burg, Mirjam, PhD ; Vermont, Clementien L., MD, PhD ; van der Zwaag, Bert, PhD ; Janson, Esther, BSc ; Cuppen, Edwin, PhD ; Ploos van Amstel, Johannes K., PhD ; van Gijn, Marielle E., PhD

Journal of allergy and clinical immunology, 2014-02, Vol.133 (2), p.529-534.e1 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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2
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia
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CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia

van Montfrans, Joris M., MD, PhD ; Hoepelman, Andy I.M., MD, PhD ; Otto, Sigrid, BSc ; van Gijn, Marielle, PhD ; van de Corput, Lisette, PhD ; de Weger, Roel A., PhD ; Monaco-Shawver, Linda, BSc ; Banerjee, Pinaki P., PhD ; Sanders, Elisabeth A.M., MD, PhD ; Jol–van der Zijde, Cornelia M., PhD ; Betts, Michael R., PhD ; Orange, Jordan S., MD, PhD ; Bloem, Andries C., PhD ; Tesselaar, Kiki, PhD

Journal of allergy and clinical immunology, 2012-03, Vol.129 (3), p.787-793.e6 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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3
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry
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Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

Maccari, Maria Elena ; Abolhassani, Hassan ; Aghamohammadi, Asghar ; Aiuti, Alessandro ; Aleinikova, Olga ; Bangs, Catherine ; Baris, Safa ; Barzaghi, Federica ; Baxendale, Helen ; Buckland, Matthew ; Burns, Siobhan O ; Cancrini, Caterina ; Cant, Andrew ; Cathébras, Pascal ; Cavazzana, Marina ; Chandra, Anita ; Conti, Francesca ; Coulter, Tanya ; Devlin, Lisa A ; Edgar, J David M ; Faust, Saul ; Fischer, Alain ; Garcia-Prat, Marina ; Hammarström, Lennart ; Heeg, Maximilian ; Jolles, Stephen ; Karakoc-Aydiner, Elif ; Kindle, Gerhard ; Kiykim, Ayca ; Kumararatne, Dinakantha ; Grimbacher, Bodo ; Longhurst, Hilary ; Mahlaoui, Nizar ; Milota, Tomas ; Moreira, Fernando ; Moshous, Despina ; Mukhina, Anna ; Neth, Olaf ; Neven, Benedicte ; Nieters, Alexandra ; Olbrich, Peter ; Ozen, Ahmet ; Pachlopnik Schmid, Jana ; Picard, Capucine ; Prader, Seraina ; Rae, William ; Reichenbach, Janine ; Rusch, Stephan ; Savic, Sinisa ; Scarselli, Alessia ; Scheible, Raphael ; Sediva, Anna ; Sharapova, Svetlana O ; Shcherbina, Anna ; Slatter, Mary ; Soler-Palacin, Pere ; Stanislas, Aurelie ; Suarez, Felipe ; Tucci, Francesca ; Uhlmann, Annette ; van Montfrans, Joris ; Warnatz, Klaus ; Williams, Anthony Peter ; Wood, Phil ; Kracker, Sven ; Condliffe, Alison Mary ; Ehl, Stephan

Frontiers in immunology, 2018-03, Vol.9, p.543-543 [Periódico revisado por pares]

Switzerland: Frontiers

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4
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
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Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Tesch, Victoria Katharina ; Abolhassani, Hassan ; Shadur, Bella ; Zobel, Joachim ; Mareika, Yuliya ; Sharapova, Svetlana ; Karakoc-Aydiner, Elif ; Rivière, Jacques G. ; Garcia-Prat, Marina ; Moes, Nicolette ; Haerynck, Filomeen ; Gonzales-Granado, Luis I. ; Santos Pérez, Juan Luis ; Mukhina, Anna ; Shcherbina, Anna ; Aghamohammadi, Asghar ; Hammarström, Lennart ; Dogu, Figen ; Haskologlu, Sule ; İkincioğulları, Aydan İ. ; Köstel Bal, Sevgi ; Baris, Safa ; Kilic, Sara Sebnem ; Karaca, Neslihan Edeer ; Kutukculer, Necil ; Girschick, Hermann ; Kolios, Antonios ; Keles, Sevgi ; Uygun, Vedat ; Stepensky, Polina ; Worth, Austen ; van Montfrans, Joris M. ; Peters, Anke M.J. ; Meyts, Isabelle ; Adeli, Mehdi ; Marzollo, Antonio ; Padem, Nurcicek ; Khojah, Amer M. ; Chavoshzadeh, Zahra ; Avbelj Stefanija, Magdalena ; Bakhtiar, Shahrzad ; Florkin, Benoit ; Meeths, Marie ; Gamez, Laura ; Grimbacher, Bodo ; Seppänen, Mikko R.J. ; Lankester, Arjan ; Gennery, Andrew R. ; Seidel, Markus G.

Journal of allergy and clinical immunology, 2020-05, Vol.145 (5), p.1452-1463 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Novel mutations in TNFRSF7 / CD27 : Clinical, immunologic, and genetic characterization of human CD27 deficiency
Novel mutations in TNFRSF7 / CD27 : Clinical, immunologic, and genetic characterization of human CD27 deficiency
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Novel mutations in TNFRSF7 / CD27 : Clinical, immunologic, and genetic characterization of human CD27 deficiency

Alkhairy, Omar K., MD ; Perez-Becker, Ruy, MD ; Driessen, Gertjan J., MD, PhD ; Abolhassani, Hassan, MD ; van Montfrans, Joris, MD, PhD ; Borte, Stephan, MD ; Choo, Sharon, MD ; Wang, Ning, PhD ; Tesselaar, Kiki, PhD ; Fang, Mingyan, PhD ; Bienemann, Kirsten, MD ; Boztug, Kaan, MD ; Daneva, Ana, MSc ; Mechinaud, Francoise, MD ; Wiesel, Thomas, MD ; Becker, Christian, MD ; Dückers, Gregor, MD ; Siepermann, Kathrin, MD ; van Zelm, Menno C., PhD ; Rezaei, Nima, MD, PhD ; van der Burg, Mirjam, PhD ; Aghamohammadi, Asghar, MD, PhD ; Seidel, Markus G., MD ; Niehues, Tim, MD ; Hammarström, Lennart, MD, PhD

Journal of allergy and clinical immunology, 2015-09, Vol.136 (3), p.703-712.e10 [Periódico revisado por pares]

United States: Elsevier Inc

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6
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review
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TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review

van der Spek, Jet ; Groenwold, Rolf H. H. ; van der Burg, Mirjam ; van Montfrans, Joris M.

Journal of clinical immunology, 2015-05, Vol.35 (4), p.416-430 [Periódico revisado por pares]

New York: Springer US

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7
Neonatal sepsis and transient immunodeficiency: Potential for novel immunoglobulin therapies?
Neonatal sepsis and transient immunodeficiency: Potential for novel immunoglobulin therapies?
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Neonatal sepsis and transient immunodeficiency: Potential for novel immunoglobulin therapies?

Beudeker, Coco R ; Vijlbrief, Daniel C ; van Montfrans, Joris M ; Rooijakkers, Suzan H M ; van der Flier, Michiel

Frontiers in immunology, 2022-10, Vol.13, p.1016877-1016877 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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8
Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and Child
Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and Child
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Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and Child

Blom, Maartje ; Pico-Knijnenburg, Ingrid ; van Montfrans, Joris M. ; Bredius, Robbert G. M. ; van der Burg, Mirjam ; Swen, Jesse J. ; Berghuis, Dagmar

Journal of clinical immunology, 2022, Vol.42 (1), p.199-202 [Periódico revisado por pares]

New York: Springer US

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9
Similar recombination-activating gene ( RAG ) mutations result in similar immunobiological effects but in different clinical phenotypes
Similar recombination-activating gene ( RAG ) mutations result in similar immunobiological effects but in different clinical phenotypes
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Similar recombination-activating gene ( RAG ) mutations result in similar immunobiological effects but in different clinical phenotypes

IJspeert, Hanna, MSc ; Driessen, Gertjan J., MD, PhD ; Moorhouse, Michael J., PhD ; Hartwig, Nico G., MD, PhD ; Wolska-Kusnierz, Beata, MD ; Kalwak, Krzysztof, MD ; Pituch-Noworolska, Anna, MD ; Kondratenko, Irina, MD ; van Montfrans, Joris M., MD, PhD ; Mejstrikova, Ester, MD ; Lankester, Arjan C., MD, PhD ; Langerak, Anton W., PhD ; van Gent, Dik C., PhD ; Stubbs, Andrew P., PhD ; van Dongen, Jacques J.M., MD, PhD ; van der Burg, Mirjam, PhD

Journal of allergy and clinical immunology, 2014-04, Vol.133 (4), p.1124-1133.e1 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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10
Chronically Activated T-cells Retain Their Inflammatory Properties in Common Variable Immunodeficiency
Chronically Activated T-cells Retain Their Inflammatory Properties in Common Variable Immunodeficiency
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Chronically Activated T-cells Retain Their Inflammatory Properties in Common Variable Immunodeficiency

Berbers, Roos-Marijn ; van der Wal, M. Marlot ; van Montfrans, Joris M. ; Ellerbroek, Pauline M. ; Dalm, Virgil A. S. H. ; van Hagen, P. Martin ; Leavis, Helen L. ; van Wijk, Femke

Journal of clinical immunology, 2021-10, Vol.41 (7), p.1621-1632 [Periódico revisado por pares]

New York: Springer US

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