Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Authors: Adhya, Zoe, Alachkar, Hana, Anantharachagan, Ariharan, Antrobus, Richard, Arumugakani, Gururaj, Ashford, Sofie, Astle, William J., Attwood, Anthony, Bacchelli, Chiara, Batista, Joana, Baxendale, Helen E., Bethune, Claire, Bibi, Shahnaz, Bleda, Marta, Boardman, Barbara, Booth, Claire, Bradley, John R., Breen, Gerome, Brown, Matthew, Browning, Michael J., Brownlie, Mary, Buckland, Matthew S., Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Chandra, Anita, Brod, Naomi Clements, Clifford, Hayley, Cooper, Nichola, Daugherty, Louise C., Davies, E.G., Davies, Sophie, Davis, John, Deacock, Sarah, Deevi, Sri V.V., Dempster, John, Devlin, Lisa A., Dewhurst, Eleanor F., Downes, Kate, Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Edwards, Karen, Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fletcher, Debra, Fox, James, Frary, Amy J., Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Ghurye, Rohit, Gilmour, Kimberly C., Gleadall, Nicholas S., Goddard, Sarah, Gordins, Pavels, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Hu, Fengyuan, Hughes, Stephen, Huissoon, Aarnoud P., James, Roger, Jolles, Stephen, Jolley, Jennifer, Jones, Julie, Karim, Yousuf, Kasanicki, Mary A., Kelleher, Peter, Kempster, Carly, Kiani, Sorena, Kingston, Nathalie, Klein, Nigel, Kostadima, Myrto, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Laffan, James, Allen, Hana Lango, Lear, Sara E., Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Lyons, Paul A., Maimaris, Jesmeen, Manson, Ania, Mapeta, Rutendo, Martin, Jennifer, McCarthy, Mark I., McDermott, Elizabeth M., McKinney, Harriet, Meacham, Stuart, Megy, Karyn, Millar, Hazel, Mistry, Anoop, Morrisson, Valerie, Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Penkett, Christopher J., Petersen, Romina, Ponsford, Mark J., Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raymond, F. Lucy, Rayner-Matthews, Paula J., Richter, Alex, Samani, Nilesh, Samarghitean, Crina, Sanchis-Juan, Alba, Sargur, Ravishankar B., Savic, Sinisa, Seneviratne, Suranjith L., Sewell, W.A. Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Simeoni, Ilenia, Simpson, Michael A., Smith, Kenneth G.C., Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stephens, Jonathan, Stirrups, Kathleen E., Thaventhiran, James E., Thomas, David, Thomas, Moira J., Thomas, Patrick, Thrasher, Adrian J., Tilly, Tobias, Titterton, Catherine, Treadaway, Paul, Tuna, Salih, Turro, Ernest, Urniaz, Rafal, von Ziegenweidt, Julie, Walker, Neil, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Willcocks, Lisa, Wood, Nicholas, Wood, Yvette, Workman, Sarita, Worth, Austen, Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Zlamalova, Eliska, 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, 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., Tuijnenburg, Paul, Warnatz, Klaus, Grimbacher, Bodo

Source: In The Journal of Allergy and Clinical Immunology October 2020 146(4):901-911

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Authors: Adhya, Zoe, Alachkar, Hana, Anantharachagan, Ariharan, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Browning, Michael, Brownlie, Mary, Burns, Siobhan, Chandra, Anita, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Dempster, John, Devlin, Lisa, Doffinger, Rainer, Drewe, Elizabeth, Edgar, David, Egner, William, El-Shanawany, Tariq, Gaspar, Bobby, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Hughes, Stephen, Huissoon, Aarnoud, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, Manson, Ania, McDermott, Elizabeth, Millar, Hazel, Mistry, Anoop, Morrisson, Valerie, Murng, Sai, Nasir, Iman, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Richter, Alex, Samarghitean, Crina, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewall, Carrock, Shackley, Fiona, Simeoni, Ilenia, Smith, Kenneth G.C., Staples, Emily, Stauss, Hans, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Welch, Steve, Willcocks, Lisa, Workman, Sarita, Worth, Austen, Yeatman, Nigel, Yong, Patrick, Ashford, Sofie, Bradley, John, Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Ouwehand, Willem, Penkett, Christopher, Raymond, F Lucy, Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Martin, Jennifer, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Haimel, Matthias, Hu, Fengyuan, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, Yu, Ping, von Ziegenweldt, Julie, Furnell, Abigail, Mapeta, Rutendo, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Rayner-Matthews, Paula, Watt, Christopher, Tuijnenburg, Paul, Burns, Siobhan O., Jansen, Machiel H., Carss, Keren J., Biasci, Daniele, Kiani-Alikhan, Sorena, Longhurst, Hilary J., Seneviratne, Suranjith L., de Bree, Godelieve J., Tool, Anton T.J., van Leeuwen, Ester M.M., Ebberink, Eduard H.T.M., Meijer, Alexander B., Thrasher, Adrian J., Thaventhiran, James E., Kuijpers, Taco W.

Source: In The Journal of Allergy and Clinical Immunology October 2018 142(4):1285-1296

Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.

Authors: Walker, Kieran¹ (AUTHOR), Mistry, Anoop² (AUTHOR), Watson, Christopher M.^1,3 (AUTHOR), Nadat, Fatima² (AUTHOR), O'Callaghan, Eleanor¹ (AUTHOR), Care, Matthew¹ (AUTHOR), Crinnion, Laura A.^1,3 (AUTHOR), Arumugakani, Gururaj² (AUTHOR), Bonthron, David T.^1,4 (AUTHOR), Carter, Clive² (AUTHOR), Doody, Gina M.¹ (AUTHOR), Savic, Sinisa^2,5 (AUTHOR) s.savic@leeds.ac.uk

Source: Journal of Clinical Immunology. Oct2023, Vol. 43 Issue 7, p1543-1556. 14p.

Subject Terms: *PLASMA cells, *B cell receptors, *STROMAL cell-derived factor 1, *B cell differentiation, *CD19 antigen

Cost‐effectiveness of personalized omalizumab dosing for chronic spontaneous urticaria.

Authors: Denman, Sarah, Smith, Helin, Arumugakani, Gururaj, Mistry, Anoop, Savic, Sinisa

Source: Clinical & Experimental Dermatology; Nov2022, Vol. 47 Issue 11, p2002-2005, 4p, 1 Diagram, 2 Charts

Subject Terms: OMALIZUMAB, URTICARIA, COST effectiveness, DRUG prices, COST control

Geographic Terms: EUROPE

A third generation vaccine for human visceral leishmaniasis and post kala azar dermal leishmaniasis: First-in-human trial of ChAd63-KH.

Authors: Osman, Mohamed¹, Mistry, Anoop¹, Keding, Ada², Gabe, Rhian², Cook, Elizabeth², Forrester, Sarah¹, Wiggins, Rebecca¹, Di Marco, Stefania³, Colloca, Stefano³, Siani, Loredana³, Cortese, Riccardo⁴, Smith, Deborah F.¹, Aebischer, Toni⁵, Kaye, Paul M.¹ paul.kaye@york.ac.uk, Lacey, Charles J.¹ charles.lacey@hyms.ac.uk

Source: PLoS Neglected Tropical Diseases. 5/12/2017, Vol. 11 Issue 5, p1-24. 24p.

Subject Terms: *VISCERAL leishmaniasis, *LEISHMANIASIS, *T cells, *AMASTIGOTES, *VACCINATION, *DISEASE risk factors

The burden of perioperative teicoplanin allergy in Yorkshire 2013–22

Authors: Littlejohns, Anna, Hopkins, Philip, Savic, Sinisa, Arumugakani, Gururaj, Mistry, Anoop, Savic, Louise

Source: In British Journal of Anaesthesia September 2023 131(3):e96-e96

Improving Diagnosis and Clinical Management of Acquired Systemic Autoinflammatory Diseases.

Authors: Al-Hakim, Adam, Mistry, Anoop, Savic, Sinisa

Source: Journal of Inflammation Research; Oct2022, Vol. 15, p5739-5755, 17p

Subject Terms: STILL'S disease, AUTOINFLAMMATORY diseases, DIAGNOSIS

Hyper‐IgM syndrome resulting from heterozygous AICDA variants: A European first?

Authors: Kacar, Mark, Shrimpton, Jennifer K., Jassam, Miriam, Mistry, Anoop, Arumugakani, Gururaj, Grammatikos, Alexandros, Gompels, Mark, Doody, Gina M., Savic, Sinisa

Source: Scandinavian Journal of Immunology; Jul2022, Vol. 96 Issue 1, p1-4, 4p

Subject Terms: GENETIC variation, OTITIS media, IMMUNOLOGIC memory, AUTOIMMUNE hemolytic anemia, GASTROINTESTINAL system, IMMUNOGLOBULIN class switching, WARTS

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Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases.

Authors: Savic, Sinisa, Mistry, Anoop, Wilson, Anthony G., Barcenas-Morales, Gabriela, Doffinger, Rainer, Emery, Paul, McGonagle, Dennis

Source: RMD Open; 11/1/2017, Vol. 3 Issue 2, p1-6, 6p

Drug challenge testing: a critical step in the investigation of neuromuscular blocking agent hypersensitivity.

Authors: Littlejohns, Anna¹ (AUTHOR), Hopkins, Philip M.^1,2 (AUTHOR), Savic, Sinisa^3,4 (AUTHOR), Mistry, Anoop⁴ (AUTHOR), Savic, Louise¹ (AUTHOR)

Source: BJA: The British Journal of Anaesthesia. Mar2025, Vol. 134 Issue 3, p641-645. 5p.

Subject Terms: *NEUROMUSCULAR blocking agents, *DRUG allergy, *SKIN tests, *STANDARDIZED tests, *SENSITIVITY & specificity (Statistics)

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