The efficacy and safety of systemic corticosteroids as first line treatment for granulomatous lymphocytic interstitial lung disease

Authors: Smits, Bas, Goldacker, Sigune, Seneviratne, Suranjith, Malphettes, Marion, Longhurst, Hilary, Mohamed, Omar E., Witt-Rautenberg, Carla, Leeman, Lucy, Schwaneck, Eva, Raymond, Isabelle, Meghit, Kilifa, Uhlmann, Annette, Winterhalter, Christine, van Montfrans, Joris, Klima, Marion, Workman, Sarita, Fieschi, Claire, Lorenzo, Lorena, Boyle, Sonja, Onyango-Odera, Shamin, Price, Suzanne, Schmalzing, Marc, Aurillac, Valerie, Prasse, Antje, Hartmann, Ieneke, Meerburg, Jennifer J., Kemner-van de Corput, Mariette, Tiddens, Harm, Grimbacher, Bodo, Kelleher, Peter, Patel, Smita Y., Korganow, Anne-Sophie, Viallard, Jean-Francois, Tony, Hans-Peter, Bethune, Claire, Schulze-Koops, Hendrik, Witte, Torsten, Huissoon, Aarnoud, Baxendale, Helen, Grigoriadou, Sofia, Oksenhendler, Eric, Burns, Siobhan O., Warnatz, Klaus

Source: Journal of allergy and clinical immunology. 152(2):528-537

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Infections in the immunocompromised host: primary immunodeficiency disorders

Authors: Shields, Adrian M., Patel, Smita Y.

Source: In Medicine October 2021 49(10):603-610

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Authors: Dorjbal, Batsukh, Stinson, Jeffrey R., Ma, Chi A., Weinreich, Michael A., Miraghazadeh, Bahar, Hartberger, Julia M., Frey-Jakobs, Stefanie, Weidinger, Stephan, Moebus, Lena, Franke, Andre, Schäffer, Alejandro A., Bulashevska, Alla, Fuchs, Sebastian, Ehl, Stephan, Limaye, Sandhya, Arkwright, Peter D., Briggs, Tracy A., Langley, Claire, Bethune, Claire, Whyte, Andrew F., Alachkar, Hana, Nejentsev, Sergey, DiMaggio, Thomas, Nelson, Celeste G., Stone, Kelly D., Nason, Martha, Brittain, Erica H., Oler, Andrew J., Veltri, Daniel P., Leahy, T. Ronan, Conlon, Niall, Poli, Maria C., Borzutzky, Arturo, Cohen, Jeffrey I., Davis, Joie, Lambert, Michele P., Romberg, Neil, Sullivan, Kathleen E., Paris, Kenneth, Freeman, Alexandra F., Lucas, Laura, Chandrakasan, Shanmuganathan, Savic, Sinisa, Hambleton, Sophie, Patel, Smita Y., Jordan, Michael B., Theos, Amy, Lebensburger, Jeffrey, Atkinson, T. Prescott, Torgerson, Troy R., Chinn, Ivan K., Milner, Joshua D. ^∗, Grimbacher, Bodo ^∗, Cook, Matthew C. ^∗, Snow, Andrew L. ^∗

Source: In The Journal of Allergy and Clinical Immunology April 2019 143(4):1482-1495

A Novel, Heterozygous Three Base-Pair Deletion in CARD11 Results in B Cell Expansion with NF-κB and T Cell Anergy Disease

Authors: Shields, Adrian M., Bauman, Bradly M., Hargreaves, Chantal E., Pollard, Andrew J., Snow, Andrew L., Patel, Smita Y.

Source: Journal of clinical immunology. 40(2):406-411

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164400681.0x000001&indx=1&recIds=ETOCvdc_100164400681.0x000001

Investigating pulmonary and non-infectious complications in common variable immunodeficiency disorders: a UK national multi-centre study.

Authors: Bintalib, Heba M., Grigoriadou, Sofia, Patel, Smita Y., Mutlu, Leman, Sooriyakumar, Kavitha, Vaitla, Prashantha, McDermott, Elizabeth, Drewe, Elizabeth, Steele, Cathal, Ahuja, Manisha, Garcez, Tomaz, Gompels, Mark, Grammatikos, Alexandros, Herwadkar, Archana, Ayub, Rehana, Halliday, Neil, Burns, Siobhan O., Hurst, John R., Goddard, Sarah

Source: Frontiers in Immunology; 2024, p1-12, 12p

Subject Terms: COMMON variable immunodeficiency, INTERSTITIAL lung diseases, DISEASE complications, LUNG diseases, GASTROINTESTINAL diseases, BRONCHIECTASIS

Normalization of C1 Inhibitor in a Patient with Hereditary Angioedema.

Authors: Peters, Nicholas E.^1,2, Lochlainn, Dylan J. Mac¹, Dhalla, Fatima^1,3, Howarth, Lucy⁴, Gupte, Girish L.⁵, Sharif, Khalid⁵, Jain, Rashmi¹, Kelly, Dominic³, Patel, Smita Y.¹, smita.patel@ouh.nhs.uk

Source: New England Journal of Medicine; 7/4/2024, Vol. 391 Issue 1, p56-59, 4p

A comprehensive characterization of chronic norovirus infection in immunodeficient hosts

Authors: Brown, Li-An K., Ruis, Christopher, Clark, Ian, Roy, Sunando, Brown, Julianne R., Albuquerque, Adriana S., Patel, Smita Y., Miller, Joanne, Karim, Mohammed Yousuf, Dervisevic, Samir, Moore, Jennifer, Williams, Charlotte A., Cudini, Juliana, Moreira, Fernando, Neild, Penny, Seneviratne, Suranjith L., Workman, Sarita, Toumpanakis, Christos, Atkinson, Claire, Burns, Siobhan O., Breuer, Judith, Lowe, David M.

Source: Journal of allergy and clinical immunology. 144(5):1450-1453

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100091813243.0x000001&indx=1&recIds=ETOCvdc_100091813243.0x000001

Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants

Authors: Hargreaves, Chantal E., Dhalla, Fatima, Patel, Arzoo M., de Oteyza, Andrés Caballero Garcia, Bateman, Elizabeth, Miller, Joanne, Anzilotti, Consuelo, Ayers, Lisa, Grimbacher, Bodo, Patel, Smita Y.

Source: Clinical immunology. 234

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153471008.0x000001&indx=1&recIds=ETOCvdc_100153471008.0x000001

The primary immunodeficiency disorders

Authors: Shields, Adrian M., Patel, Smita Y.

Source: In Medicine October 2017 45(10):597-604

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

Authors: Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony J., Kucuk, Zeynep Yesim, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew R., Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven M., Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita Y., Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin W., Casanova, Jean-Laurent, Orange, Jordan S., Picard, Capucine

Source: In Blood 21 September 2017 130(12):1456-1467

British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders

Authors: Hurst, John R., Verma, Nisha, Lowe, David, Baxendale, Helen E., Jolles, Stephen, Kelleher, Peter, Longhurst, Hilary J., Patel, Smita Y., Renzoni, Elisabetta A., Sander, Clare R., Avery, Gerard R., Babar, Judith L., Buckland, Matthew S., Burns, Siobhan, Egner, William, Gompels, Mark M., Gordins, Pavels, Haddock, Jamanda A., Hart, Simon P., Hayman, Grant R., Herriot, Richard, Hoyles, Rachel K., Huissoon, Aarnoud P., Jacob, Joseph, Nicholson, Andrew G., Rassl, Doris M., Sargur, Ravishankar B., Savic, Sinisa, Seneviratne, Suranjith L., Sheaff, Michael, Vaitla, Prashantha M., Walters, Gareth I., Whitehouse, Joanna L., Wright, Penny A., Condliffe, Alison M.

Source: In The Journal of Allergy and Clinical Immunology: In Practice July-August 2017 5(4):938-945

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

Authors: van Schouwenburg, Pauline A., Davenport, Emma E., Kienzler, Anne-Kathrin, Marwah, Ishita, Wright, Benjamin, Lucas, Mary, Malinauskas, Tomas, Martin, Hilary C., Lockstone, Helen E., Cazier, Jean-Baptiste, Chapel, Helen M., Knight, Julian C., Patel, Smita Y.

Source: In Clinical Immunology October 2015 160(2):301-314

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

Authors: Hsu, Amy P., Sampaio, Elizabeth P., Khan, Javed, Calvo, Katherine R., Lemieux, Jacob E., Patel, Smita Y., Frucht, David M., Vinh, Donald C., Auth, Roger D., Freeman, Alexandra F., Olivier, Kenneth N., Uzel, Gulbu, Zerbe, Christa S., Spalding, Christine, Pittaluga, Stefania, Raffeld, Mark, Kuhns, Douglas B., Ding, Li, Paulson, Michelle L., Marciano, Beatriz E., Gea-Banacloche, Juan C., Orange, Jordan S., Cuellar-Rodriguez, Jennifer, Hickstein, Dennis D., Holland, Steven M.

Source: In Blood 8 September 2011 118(10):2653-2655

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Authors: Taylor, John, Craft, Jude, Blair, Edward, Wordsworth, Sarah, Beeson, David, Chandratre, Saleel, Cossins, Judith, Lester, Tracy, Németh, Andrea H., Ormondroyd, Elizabeth, Patel, Smita Y., Pagnamenta, Alistair T., Taylor, Jenny C., Thomson, Kate L., Watkins, Hugh, Wilkie, Andrew O. M., Knight, Julian C.

Source: Genome medicine. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130325019.0x000001&indx=1&recIds=ETOCvdc_100130325019.0x000001

Sequencing of human genomes with nanopore technology

Authors: Bowden, Rory, Davies, Robert W., Heger, Andreas, Pagnamenta, Alistair T., de Cesare, Mariateresa, Oikkonen, Laura E., Parkes, Duncan, Freeman, Colin, Dhalla, Fatima, Patel, Smita Y., Popitsch, Niko, Ip, Camilla L. C., Roberts, Hannah E., Salatino, Silvia, Lockstone, Helen, Lunter, Gerton, Taylor, Jenny C., Buck, David, Simpson, Michael A., Donnelly, Peter

Source: Nature communications. 10(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131063169.0x000001&indx=1&recIds=ETOCvdc_100131063169.0x000001

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

Authors: Vinh, Donald C. ^*, Patel, Smita Y. ^*, Uzel, Gulbu, Anderson, Victoria L., Freeman, Alexandra F., Olivier, Kenneth N., Spalding, Christine, Hughes, Stephen, Pittaluga, Stefania, Raffeld, Mark, Sorbara, Lynn R., Elloumi, Houda Z., Kuhns, Douglas B., Turner, Maria L., Cowen, Edward W., Fink, Danielle, Long-Priel, Debra, Hsu, Amy P., Ding, Li, Paulson, Michelle L., Whitney, Adeline R., Sampaio, Elizabeth P., Frucht, David M., DeLeo, Frank R., Holland, Steven M.

Source: In Blood 25 February 2010 115(8):1519-1529

Impact of vaccination on hospitalization and mortality from COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience.

Authors: Shields, Adrian M., Tadros, Susan, Al-Hakim, Adam, Nell, Jeremy M., Me Me Nay Lin, Chan, Michele, Goddard, Sarah, Dempster, John, Dziadzio, Magdalena, Patel, Smita Y., Elkalifa, Shuayb, Huissoon, Aarnoud, Duncan, Christopher J. A., Herwadkar, Archana, Khan, Sujoy, Bethune, Claire, Elcombe, Suzanne, Thaventhiran, James, Klenerman, Paul, Lowe, David M.

Source: Frontiers in Immunology; 9/23/2022, Vol. 13, p1-13, 13p

Subject Terms: COVID-19, PRIMARY immunodeficiency diseases, PELVIC inflammatory disease, VACCINATION, COVID-19 vaccines, SARS-CoV-2 Omicron variant

Geographic Terms: UNITED Kingdom

Host genetic factors and mycobacterial infections: lessons from single gene disorders affecting innate and adaptive immunity

Authors: Doffinger, Rainer, Patel, Smita Y., Kumararatne, Dinakantha S.

Source: In Microbes and Infection 2006 8(4):1141-1150

Mechanisms of disease: Atypical familial mycobacteriosis

Authors: Patel, Smita Y., Holland, Steven M.

Source: In Drug Discovery Today: Disease Mechanisms 2005 2(4):487-494

Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders.

Authors: Hargreaves, Chantal E., Salatino, Silvia, Sasson, Sarah C., Charlesworth, James E. G., Bateman, Elizabeth, Patel, Arzoo M., Anzilotti, Consuelo, Broxholme, John, Knight, Julian C., Patel, Smita Y.

Source: Journal of Clinical Immunology; Aug2021, Vol. 41 Issue 6, p1315-1330, 16p

Subject Terms: COMMON variable immunodeficiency, DNA repair, GENETIC variation, AUTOMATED teller machines, HEREDITARY nonpolyposis colorectal cancer, PHENOTYPES, AGAMMAGLOBULINEMIA