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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
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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3
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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4
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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5
Severe Fatigue Is Common Among Pediatric Patients with Primary Immunodeficiency and Is Not Related to Disease Activity
Severe Fatigue Is Common Among Pediatric Patients with Primary Immunodeficiency and Is Not Related to Disease Activity
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Severe Fatigue Is Common Among Pediatric Patients with Primary Immunodeficiency and Is Not Related to Disease Activity

Nijhof, Linde N. ; van Brussel, Marco ; Pots, Esther M. ; van Litsenburg, Raphaële R. L. ; van de Putte, Elise M. ; van Montfrans, Joris M. ; Nijhof, Sanne L.

Journal of clinical immunology, 2021-08, Vol.41 (6), p.1198-1207 [Periódico revisado por pares]

New York: Springer US

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6
Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency
Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency
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Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency

Smits, Bas M. ; Kleine Budde, Ilona ; de Vries, Esther ; ten Berge, Ineke J. M. ; Bredius, Robbert G. M. ; van Deuren, Marcel ; van Dissel, Jaap T. ; Ellerbroek, Pauline M. ; van der Flier, Michiel ; van Hagen, P. Martin ; Nieuwhof, Chris ; Rutgers, Bram ; Sanders, Lieke E. A. M. ; Simon, Anna ; Kuijpers, Taco W. ; van Montfrans, Joris M.

Journal of clinical immunology, 2021-02, Vol.41 (2), p.382-392 [Periódico revisado por pares]

New York: Springer US

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7
Retropharyngeal abscess-like as an atypical presentation of Kawasaki disease: a case report and literature review
Retropharyngeal abscess-like as an atypical presentation of Kawasaki disease: a case report and literature review
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Retropharyngeal abscess-like as an atypical presentation of Kawasaki disease: a case report and literature review

Kasem Ali Sliman, Rim ; van Montfrans, Joris M ; Nassrallah, Najwan ; Hamad Saied, Mohamad

Pediatric rheumatology online journal, 2023-04, Vol.21 (1), p.34-34, Article 34 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Low IgA Associated With Oropharyngeal Microbiota Changes and Lung Disease in Primary Antibody Deficiency
Low IgA Associated With Oropharyngeal Microbiota Changes and Lung Disease in Primary Antibody Deficiency
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Low IgA Associated With Oropharyngeal Microbiota Changes and Lung Disease in Primary Antibody Deficiency

Berbers, Roos-Marijn ; Mohamed Hoesein, Firdaus A A ; Ellerbroek, Pauline M ; van Montfrans, Joris M ; Dalm, Virgil A S H ; van Hagen, P Martin ; Paganelli, Fernanda L ; Viveen, Marco C ; Rogers, Malbert R C ; de Jong, Pim A ; Uh, Hae-Won ; Willems, Rob J L ; Leavis, Helen L

Frontiers in immunology, 2020-06, Vol.11, p.1245-1245 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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9
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers
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Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers

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

Frontiers in immunology, 2021-12, Vol.12, p.780134-780134 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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10
Defective calcium signaling and disrupted CD20–B-cell receptor dissociation in patients with common variable immunodeficiency disorders
Defective calcium signaling and disrupted CD20–B-cell receptor dissociation in patients with common variable immunodeficiency disorders
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Defective calcium signaling and disrupted CD20–B-cell receptor dissociation in patients with common variable immunodeficiency disorders

van de Ven, Annick A.J.M., MD ; Compeer, Ewoud B., MSc ; Bloem, Andries C., PhD ; van de Corput, Lisette, PhD ; van Gijn, Marielle, PhD ; van Montfrans, Joris M., MD, PhD ; Boes, Marianne, PhD

Journal of allergy and clinical immunology, 2012-03, Vol.129 (3), p.755-761.e7 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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