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Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency. [electronic resource] by
- Tuijnenburg, Paul
- Lango Allen, Hana
- de Bree, Godelieve J
- Savic, Sinisa
- Jansen, Machiel H
- Stockdale, Claire
- Simeoni, Ilenia
- Ten Berge, Ineke J M
- van Leeuwen, Ester M M
- Thaventhiran, James E
- Kuijpers, Taco W
Producer: 20200402
In:
Clinical immunology (Orlando, Fla.) vol. 203
Availability: No items available.
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8.
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Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. [electronic resource] by
- Staples, Emily
- Morillo-Gutierrez, Beatriz
- Davies, Jessica
- Petersheim, Daniel
- Massaad, Michel
- Slatter, Mary
- Dimou, Dimitra
- Doffinger, Rainer
- Hackett, Scott
- Kumararatne, Dinkantha
- Hadfield, James
- Eldridge, Matthew D
- Geha, Raif S
- Abinun, Mario
- Thaventhiran, James E D
Producer: 20190408
In:
Journal of clinical immunology vol. 37
Availability: No items available.
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9.
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ADA2 deficiency complicated by EBV-driven lymphoproliferative disease. [electronic resource] by
- Staples, Emily
- Simeoni, Ilenia
- Stephens, Jonathan C
- Allen, Hana Lango
- Wright, Penny
- Davies, E Graham
- Javid, Babak
- Gkrania-Klotsas, Effrossyni
- Gattens, Michael
- Firth, Helen
- Shamardina, Olga
- Deevi, Sri V V
- Prapa, Matina
- Uttenthal, Ben
- Kumararatne, Dinakantha
- Thaventhiran, James E D
Producer: 20210129
In:
Clinical immunology (Orlando, Fla.) vol. 215
Availability: No items available.
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10.
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A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway. [electronic resource] by
- Sng, Christopher C T
- O'Byrne, Sorcha
- Prigozhin, Daniil M
- Bauer, Matthias R
- Harvey, Jennifer C
- Ruhle, Michelle
- Challis, Ben G
- Lear, Sara
- Roberts, Lee D
- Workman, Sarita
- Janowitz, Tobias
- Magiera, Lukasz
- Doffinger, Rainer
- Buckland, Matthew S
- Jodrell, Duncan J
- Semple, Robert K
- Wilson, Timothy J
- Modis, Yorgo
- Thaventhiran, James E D
Producer: 20190802
In:
The Journal of allergy and clinical immunology vol. 142
Availability: No items available.
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11.
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Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance. [electronic resource] by
- Zhang, Zinan
- Gothe, Florian
- Pennamen, Perrine
- James, John R
- McDonald, David
- Mata, Carlos P
- Modis, Yorgo
- Alazami, Anas M
- Acres, Meghan
- Haller, Wolfram
- Bowen, Claire
- Döffinger, Rainer
- Sinclair, Jan
- Brothers, Shannon
- Zhang, Yu
- Matthews, Helen F
- Naudion, Sophie
- Pelluard, Fanny
- Alajlan, Huda
- Yamazaki, Yasuhiro
- Notarangelo, Luigi D
- Thaventhiran, James E
- Engelhardt, Karin R
- Al-Mousa, Hamoud
- Hambleton, Sophie
- Rooryck, Caroline
- Smith, Kenneth G C
- Lenardo, Michael J
Producer: 20200414
In:
The Journal of experimental medicine vol. 216
Availability: No items available.
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12.
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The evolution of cellular deficiency in GATA2 mutation. [electronic resource] by
- Dickinson, Rachel E
- Milne, Paul
- Jardine, Laura
- Zandi, Sasan
- Swierczek, Sabina I
- McGovern, Naomi
- Cookson, Sharon
- Ferozepurwalla, Zaveyna
- Langridge, Alexander
- Pagan, Sarah
- Gennery, Andrew
- Heiskanen-Kosma, Tarja
- Hämäläinen, Sari
- Seppänen, Mikko
- Helbert, Matthew
- Tholouli, Eleni
- Gambineri, Eleonora
- Reykdal, Sigrún
- Gottfreðsson, Magnús
- Thaventhiran, James E
- Morris, Emma
- Hirschfield, Gideon
- Richter, Alex G
- Jolles, Stephen
- Bacon, Chris M
- Hambleton, Sophie
- Haniffa, Muzlifah
- Bryceson, Yenan
- Allen, Carl
- Prchal, Josef T
- Dick, John E
- Bigley, Venetia
- Collin, Matthew
Producer: 20140404
In:
Blood vol. 123
Availability: No items available.
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13.
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. [electronic resource] by
- Tuijnenburg, Paul
- Lango Allen, Hana
- Burns, Siobhan O
- Greene, Daniel
- Jansen, Machiel H
- Staples, Emily
- Stephens, Jonathan
- Carss, Keren J
- Biasci, Daniele
- Baxendale, Helen
- Thomas, Moira
- Chandra, Anita
- Kiani-Alikhan, Sorena
- Longhurst, Hilary J
- Seneviratne, Suranjith L
- Oksenhendler, Eric
- Simeoni, Ilenia
- de Bree, Godelieve J
- Tool, Anton T J
- van Leeuwen, Ester M M
- Ebberink, Eduard H T M
- Meijer, Alexander B
- Tuna, Salih
- Whitehorn, Deborah
- Brown, Matthew
- Turro, Ernest
- Thrasher, Adrian J
- Smith, Kenneth G C
- Thaventhiran, James E
- Kuijpers, Taco W
Producer: 20190916
In:
The Journal of allergy and clinical immunology vol. 142
Availability: No items available.
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14.
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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. [electronic resource] by
- Spencer, Sarah
- Köstel Bal, Sevgi
- Egner, William
- Lango Allen, Hana
- Raza, Syed I
- Ma, Chi A
- Gürel, Meltem
- Zhang, Yuan
- Sun, Guangping
- Sabroe, Ruth A
- Greene, Daniel
- Rae, William
- Shahin, Tala
- Kania, Katarzyna
- Ardy, Rico Chandra
- Thian, Marini
- Staples, Emily
- Pecchia-Bekkum, Annika
- Worrall, William P M
- Stephens, Jonathan
- Brown, Matthew
- Tuna, Salih
- York, Melanie
- Shackley, Fiona
- Kerrin, Diarmuid
- Sargur, Ravishankar
- Condliffe, Alison
- Tipu, Hamid Nawaz
- Kuehn, Hye Sun
- Rosenzweig, Sergio D
- Turro, Ernest
- Tavaré, Simon
- Thrasher, Adrian J
- Jodrell, Duncan Ian
- Smith, Kenneth G C
- Boztug, Kaan
- Milner, Joshua D
- Thaventhiran, James E D
Producer: 20200610
In:
The Journal of experimental medicine vol. 216
Availability: No items available.
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15.
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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. [electronic resource] by
- Lorenzini, Tiziana
- Fliegauf, Manfred
- Klammer, Nils
- Frede, Natalie
- Proietti, Michele
- Bulashevska, Alla
- Camacho-Ordonez, Nadezhda
- Varjosalo, Markku
- Kinnunen, Matias
- de Vries, Esther
- van der Meer, Jos W M
- Ameratunga, Rohan
- Roifman, Chaim M
- Schejter, Yael D
- Kobbe, Robin
- Hautala, Timo
- Atschekzei, Faranaz
- Schmidt, Reinhold E
- Schröder, Claudia
- Stepensky, Polina
- Shadur, Bella
- Pedroza, Luis A
- van der Flier, Michiel
- Martínez-Gallo, Mónica
- Gonzalez-Granado, Luis Ignacio
- Allende, Luis M
- Shcherbina, Anna
- Kuzmenko, Natalia
- Zakharova, Victoria
- Neves, João Farela
- Svec, Peter
- Fischer, Ute
- Ip, Winnie
- Bartsch, Oliver
- Barış, Safa
- Klein, Christoph
- Geha, Raif
- Chou, Janet
- Alosaimi, Mohammed
- Weintraub, Lauren
- Boztug, Kaan
- Hirschmugl, Tatjana
- Dos Santos Vilela, Maria Marluce
- Holzinger, Dirk
- Seidl, Maximilian
- Lougaris, Vassilios
- Plebani, Alessandro
- Alsina, Laia
- Piquer-Gibert, Monica
- Deyà-Martínez, Angela
- Slade, Charlotte A
- Aghamohammadi, Asghar
- Abolhassani, Hassan
- Hammarström, Lennart
- Kuismin, Outi
- Helminen, Merja
- Allen, Hana Lango
- Thaventhiran, James E
- Freeman, Alexandra F
- Cook, Matthew
- Bakhtiar, Shahrzad
- Christiansen, Mette
- Cunningham-Rundles, Charlotte
- Patel, Niraj C
- Rae, William
- Niehues, Tim
- Brauer, Nina
- Syrjänen, Jaana
- Seppänen, Mikko R J
- Burns, Siobhan O
- Tuijnenburg, Paul
- Kuijpers, Taco W
- Warnatz, Klaus
- Grimbacher, Bodo
Producer: 20210315
In:
The Journal of allergy and clinical immunology vol. 146
Availability: No items available.
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