Search | VHL CLAP/WR-PAHO/WHO

1.

Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans.

Cytlak, Urszula; Resteu, Anastasia; Pagan, Sarah; Green, Kile; Milne, Paul; Maisuria, Sheetal; McDonald, David; Hulme, Gillian; Filby, Andrew; Carpenter, Benjamin; Queen, Rachel; Hambleton, Sophie; Hague, Rosie; Lango Allen, Hana; Thaventhiran, James E D; Doody, Gina; Collin, Matthew; Bigley, Venetia.

Immunity ; 53(2): 353-370.e8, 2020 08 18.

Article in English | MEDLINE | ID: mdl-32735845

2.

Impact of newborn screening for SCID on the management of congenital athymia.

Howley, Evey; Golwala, Zainab; Buckland, Matthew; Barzaghi, Federica; Ghosh, Sujal; Hackett, Scott; Hague, Rosie; Hauck, Fabian; Holzer, Ursula; Klocperk, Adam; Koskenvuo, Minna; Marcus, Nufar; Marzollo, Antonio; Pac, Malgorzata; Sinclair, Jan; Speckmann, Carsten; Soomann, Maarja; Speirs, Lynne; Suresh, Sneha; Taque, Sophie; van Montfrans, Joris; von Bernuth, Horst; Wainstein, Brynn K; Worth, Austen; Davies, E Graham; Kreins, Alexandra Y.

J Allergy Clin Immunol ; 153(1): 330-334, 2024 01.

Article in English | MEDLINE | ID: mdl-37678573

3.

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Leiding, Jennifer W; Vogel, Tiphanie P; Santarlas, Valentine G J; Mhaskar, Rahul; Smith, Madison R; Carisey, Alexandre; Vargas-Hernández, Alexander; Silva-Carmona, Manuel; Heeg, Maximilian; Rensing-Ehl, Anne; Neven, Bénédicte; Hadjadj, Jérôme; Hambleton, Sophie; Ronan Leahy, Timothy; Meesilpavikai, Kornvalee; Cunningham-Rundles, Charlotte; Dutmer, Cullen M; Sharapova, Svetlana O; Taskinen, Mervi; Chua, Ignatius; Hague, Rosie; Klemann, Christian; Kostyuchenko, Larysa; Morio, Tomohiro; Thatayatikom, Akaluck; Ozen, Ahmet; Scherbina, Anna; Bauer, Cindy S; Flanagan, Sarah E; Gambineri, Eleonora; Giovannini-Chami, Lisa; Heimall, Jennifer; Sullivan, Kathleen E; Allenspach, Eric; Romberg, Neil; Deane, Sean G; Prince, Benjamin T; Rose, Melissa J; Bohnsack, John; Mousallem, Talal; Jesudas, Rohith; Santos Vilela, Maria Marluce Dos; O'Sullivan, Michael; Pachlopnik Schmid, Jana; Pruhová, Stepánka; Klocperk, Adam; Rees, Matthew; Su, Helen; Bahna, Sami; Baris, Safa.

J Allergy Clin Immunol ; 151(4): 1081-1095, 2023 04.

Article in English | MEDLINE | ID: mdl-36228738

4.

Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort.

Shears, Annalie; Steele, Cathal; Craig, Jamie; Jolles, Stephen; Savic, Sinisa; Hague, Rosie; Coulter, Tanya; Herriot, Richard; Arkwright, Peter D.

J Clin Immunol ; 42(3): 665-671, 2022 04.

Article in English | MEDLINE | ID: mdl-35084692

5.

Ledipasvir-Sofosbuvir for 12 Weeks in Children 3 to <6 Years Old With Chronic Hepatitis C.

Schwarz, Kathleen B; Rosenthal, Philip; Murray, Karen F; Honegger, Jonathan R; Hardikar, Winita; Hague, Rosie; Mittal, Naveen; Massetto, Benedetta; Brainard, Diana M; Hsueh, Chia-Hsiang; Shao, Jiang; Parhy, Bandita; Narkewicz, Michael R; Rao, Girish S; Whitworth, Suzanne; Bansal, Sanjay; Balistreri, William F.

Hepatology ; 71(2): 422-430, 2020 02.

Article in English | MEDLINE | ID: mdl-31220349

6.

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.

Jägle, Sabine; Heeg, Maximilian; Grün, Sarah; Rensing-Ehl, Anne; Maccari, Maria Elena; Klemann, Christian; Jones, Neil; Lehmberg, Kai; Bettoni, Claudia; Warnatz, Klaus; Grimbacher, Bodo; Biebl, Ariane; Schauer, Uwe; Hague, Rosie; Neth, Olaf; Mauracher, Andrea; Pachlopnik Schmid, Jana; Fabre, Alexandre; Kostyuchenko, Larysa; Führer, Marita; Lorenz, Myriam Ricarda; Schwarz, Klaus; Rohr, Jan; Ehl, Stephan.

Clin Immunol ; 210: 108316, 2020 01.

Article in English | MEDLINE | ID: mdl-31770611

7.

Clinical spectrum and features of activated phosphoinositide 3-kinase Î´ syndrome: A large patient cohort study.

Coulter, Tanya I; Chandra, Anita; Bacon, Chris M; Babar, Judith; Curtis, James; Screaton, Nick; Goodlad, John R; Farmer, George; Steele, Cathal Laurence; Leahy, Timothy Ronan; Doffinger, Rainer; Baxendale, Helen; Bernatoniene, Jolanta; Edgar, J David M; Longhurst, Hilary J; Ehl, Stephan; Speckmann, Carsten; Grimbacher, Bodo; Sediva, Anna; Milota, Tomas; Faust, Saul N; Williams, Anthony P; Hayman, Grant; Kucuk, Zeynep Yesim; Hague, Rosie; French, Paul; Brooker, Richard; Forsyth, Peter; Herriot, Richard; Cancrini, Caterina; Palma, Paolo; Ariganello, Paola; Conlon, Niall; Feighery, Conleth; Gavin, Patrick J; Jones, Alison; Imai, Kohsuke; Ibrahim, Mohammad A A; Markelj, Gasper; Abinun, Mario; Rieux-Laucat, Frédéric; Latour, Sylvain; Pellier, Isabelle; Fischer, Alain; Touzot, Fabien; Casanova, Jean-Laurent; Durandy, Anne; Burns, Siobhan O; Savic, Sinisa; Kumararatne, D S.

J Allergy Clin Immunol ; 139(2): 597-606.e4, 2017 02.

Article in English | MEDLINE | ID: mdl-27555459

8.

Fifteen-minute consultation: The child with an incidental finding of low IgA.

Sullivan, Adrienne; Bland, Ruth M; Hague, Rosie.

Arch Dis Child Educ Pract Ed ; 103(5): 231-235, 2018 10.

Article in English | MEDLINE | ID: mdl-29475900

9.

Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.

Nikolajeva, Olga; Worth, Austen; Hague, Rosie; Martinez-Alier, Nuria; Smart, Joanne; Adams, Stuart; Davies, E Graham; Gaspar, H Bobby.

J Clin Immunol ; 35(4): 366-72, 2015 May.

Article in English | MEDLINE | ID: mdl-25875700

10.

Managing the child with a fever.

Hague, Rosie.

Practitioner ; 259(1784): 17-21, 2-3, 2015.

Article in English | MEDLINE | ID: mdl-26514056

11.

Use of oral fluid to examine the molecular epidemiology of varicella zoster virus in the United Kingdom and continental Europe.

Quinlivan, Mark; Sengupta, Nitu; Papaevangelou, Vassiliki; Sauerbrei, Andreas; Grillner, Lena; Rousseva, Rossitsa; Hague, Rosie; Lutsar, Irja; Jogi, Piia; Leca, Ana; Grytchol, Ruth; Alain, Sophie; Breuer, Judith.

J Infect Dis ; 207(4): 588-93, 2013 Feb 15.

Article in English | MEDLINE | ID: mdl-23087434

12.

Be vigilant for invasive meningococcal disease.

Hague, Rosie.

Practitioner ; 258(1772): 15-8, 2, 2014 Jun.

Article in English | MEDLINE | ID: mdl-25102572

13.

A National Survey of Hereditary Angioedema and Acquired C1 Inhibitor Deficiency in the United Kingdom.

Yong, Patrick F K; Coulter, Tanya; El-Shanawany, Tariq; Garcez, Tomaz; Hackett, Scott; Jain, Rashmi; Kiani-Alikhan, Sorena; Manson, Ania; Noorani, Sadia; Stroud, Catherine; Symons, Christine; Sargur, Ravishankar; Steele, Cathal; Alachkar, Hana; Anantharachagan, Ariharan; Arkwright, Peter D; Bernatoniene, Jolanta; Bhole, Malini; Brown, Lindsay; Buckland, Matthew; Burns, Siobhan; Chopra, Charu; Darroch, James; Drewe, Elizabeth; Edmonds, Jillian; Ekbote, Anjali; Elkhalifa, Shuayb; Goddard, Sarah; Grosse-Kreul, Dorothea; Gurugama, Padmalal; Hague, Rosie; Herriot, Richard; Herwadkar, Archana; Hughes, Stephen M; Jones, Laura; Lear, Sara; McDermott, Elizabeth; Kham Murng, Sai Hurng; Price, Arthur; Redenbaugh, Vyanka; Richter, Alex; Riordan, Andrew; Shackley, Fiona; Stichbury, Julia; Springett, Debbie; Tarzi, Michael D; Thomas, Moira; Vijayadurai, Pavaladurai; Worth, Austen.

J Allergy Clin Immunol Pract ; 11(8): 2476-2483, 2023 08.

Article in English | MEDLINE | ID: mdl-37146882

14.

Erratum to: Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome.

Nikolajeva, Olga; Worth, Austen; Hague, Rosie; Martinez-Alier, Nuria; Smart, Joanne; Adams, Stuart; Davies, E Graham; Gaspar, H Bobby.

J Clin Immunol ; 36(4): 413, 2016 May.

Article in English | MEDLINE | ID: mdl-26951489

15.

Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.

Guillard, Maïlys; Morava, Eva; van Delft, Floris L; Hague, Rosie; Körner, Christian; Adamowicz, Maciej; Wevers, Ron A; Lefeber, Dirk J.

Clin Chem ; 57(4): 593-602, 2011 Apr.

Article in English | MEDLINE | ID: mdl-21273509

16.

Corrigendum: Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.

Eskandarian, Zoya; Fliegauf, Manfred; Bulashevska, Alla; Proietti, Michele; Hague, Rosie; Smulski, Cristian Roberto; Schubert, Desirée; Warnatz, Klaus; Grimbacher, Bodo.

Front Immunol ; 10: 1490, 2019.

Article in English | MEDLINE | ID: mdl-31316524

17.

Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.

Eskandarian, Zoya; Fliegauf, Manfred; Bulashevska, Alla; Proietti, Michele; Hague, Rosie; Smulski, Cristian Roberto; Schubert, Desirée; Warnatz, Klaus; Grimbacher, Bodo.

Front Immunol ; 10: 568, 2019.

Article in English | MEDLINE | ID: mdl-31057532

18.

The seroprevalence of hepatitis C virus infection among children and their mothers attending for dental care in Glasgow, Scotland, United Kingdom.

O'Leary, Maureen; Bagg, Jeremy; Welbury, Richard; Hutchinson, Sharon J; Hague, Rosie; Geary, Isabella; Roy, Kirsty M.

J Infect Public Health ; 10(4): 470-478, 2017.

Article in English | MEDLINE | ID: mdl-27568000

19.

Meningococcal disease warrants prompt referral.

Hague, Rosie.

Practitioner ; 252(1709): 17-20, 2008 Aug.

Article in English | MEDLINE | ID: mdl-18773717

20.

A case of EBV driven haemophagocytic lymphohistiocytosis complicating a teenage Crohn's disease patient on azathioprine, successfully treated with rituximab.

Fitzgerald, Michael P; Armstrong, Lawrence; Hague, Rosie; Russell, Richard K.

J Crohns Colitis ; 7(4): 314-7, 2013 May.

Article in English | MEDLINE | ID: mdl-22640698

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Latin-American Center for Perinatology, Woman and Reproductive Health

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Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans.

Impact of newborn screening for SCID on the management of congenital athymia.

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort.

Ledipasvir-Sofosbuvir for 12 Weeks in Children 3 to <6 Years Old With Chronic Hepatitis C.

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.

Clinical spectrum and features of activated phosphoinositide 3-kinase Î´ syndrome: A large patient cohort study.

Fifteen-minute consultation: The child with an incidental finding of low IgA.

Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.

Managing the child with a fever.

Use of oral fluid to examine the molecular epidemiology of varicella zoster virus in the United Kingdom and continental Europe.

Be vigilant for invasive meningococcal disease.

A National Survey of Hereditary Angioedema and Acquired C1 Inhibitor Deficiency in the United Kingdom.

Erratum to: Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome.

Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.

Corrigendum: Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.

Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.

The seroprevalence of hepatitis C virus infection among children and their mothers attending for dental care in Glasgow, Scotland, United Kingdom.

Meningococcal disease warrants prompt referral.

A case of EBV driven haemophagocytic lymphohistiocytosis complicating a teenage Crohn's disease patient on azathioprine, successfully treated with rituximab.