Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Actin-Related Protein 2-3 Complex
/ genetics
Bayes Theorem
Cohort Studies
Female
Genome-Wide Association Study
Humans
Male
Primary Immunodeficiency Diseases
/ diagnosis
Protein Tyrosine Phosphatase, Non-Receptor Type 2
/ genetics
RNA-Binding Proteins
/ genetics
Regulatory Sequences, Nucleic Acid
/ genetics
Suppressor of Cytokine Signaling 1 Protein
/ genetics
Transcription Factors
/ genetics
Whole Genome Sequencing
Journal
Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
01
12
2018
accepted:
26
02
2020
pubmed:
6
6
2020
medline:
24
7
2020
entrez:
6
6
2020
Statut:
ppublish
Résumé
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lymphoid malignancies
Identifiants
pubmed: 32499645
doi: 10.1038/s41586-020-2265-1
pii: 10.1038/s41586-020-2265-1
pmc: PMC7334047
mid: EMS85907
doi:
Substances chimiques
ARPC1A protein, human
0
ARPC1B protein, human
0
Actin-Related Protein 2-3 Complex
0
IVNS1ABP protein, human
0
RNA-Binding Proteins
0
SOCS1 protein, human
0
Suppressor of Cytokine Signaling 1 Protein
0
Transcription Factors
0
PTPN2 protein, human
EC 3.1.3.48
Protein Tyrosine Phosphatase, Non-Receptor Type 2
EC 3.1.3.48
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
90-95Subventions
Organisme : Medical Research Council
ID : MR/S025502/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/K020919/1
Pays : United Kingdom
Organisme : Department of Health
ID : RP-2016-07-019
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L019027/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_00006/2
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_18030
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 202747/Z/16/Z
Pays : United Kingdom
Organisme : British Heart Foundation
ID : SP/12/12/29836
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L006340/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 107212
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 100140
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_00016/15
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_12009/16
Pays : United Kingdom
Organisme : British Heart Foundation
ID : FS/18/53/33863
Pays : United Kingdom
Organisme : British Heart Foundation
ID : CH/1992001/6764
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 203141
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S001190/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UP_1102/20
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/K02342X/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 104807
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L006197/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_12015/2
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 201250
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S021329/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 091157
Pays : United Kingdom
Organisme : Medical Research Council
ID : G84/6443
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Investigateurs
Stephen Abbs
(S)
Zoe Adhya
(Z)
Julian Adlard
(J)
Maryam Afzal
(M)
Irshad Ahmed
(I)
Munaza Ahmed
(M)
Saeed Ahmed
(S)
Timothy J Aitman
(TJ)
Hana Alachkar
(H)
Jayanthi Alamelu
(J)
Raza Alikhan
(R)
Carl E Allen
(CE)
Louise Allen
(L)
David J Allsup
(DJ)
Arif Alvi
(A)
Gautam Ambegaonkar
(G)
Ariharan Anantharachagan
(A)
Philip Ancliff
(P)
Julie Anderson
(J)
Richard Antrobus
(R)
Ruth Armstrong
(R)
Gavin Arno
(G)
Gururaj Arumugakani
(G)
Rita Arya
(R)
Sofie Ashford
(S)
William J Astle
(WJ)
Anthony Attwood
(A)
Steve Austin
(S)
Yesim Aydinok
(Y)
Waqar Ayub
(W)
Christian Babbs
(C)
Chiara Bacchelli
(C)
Trevor Baglin
(T)
Tamam Bakchoul
(T)
Tadbir K Bariana
(TK)
Jonathan Barratt
(J)
Julian Barwell
(J)
John Baski
(J)
Rachel W Bates
(RW)
Joana Batista
(J)
Helen E Baxendale
(HE)
Gareth Baynam
(G)
David L Bennett
(DL)
Claire Bethune
(C)
Neha Bhatnagar
(N)
Shahnaz Bibi
(S)
Agnieszka Bierzynska
(A)
Tina Biss
(T)
Maria A K Bitner-Glindzicz
(MAK)
Marta Bleda
(M)
Iulia Blesneac
(I)
Barbara Boardman
(B)
Preetham Boddana
(P)
Harm J Bogaard
(HJ)
Claire Booth
(C)
Sara Boyce
(S)
John R Bradley
(JR)
Angela Brady
(A)
Gerome Breen
(G)
Paul Brennan
(P)
Carole Brewer
(C)
Annette Briley
(A)
Matthew Brown
(M)
Richard Brown
(R)
Michael J Browning
(MJ)
Mary Brownlie
(M)
Christine J Bryson
(CJ)
Rachel J Buchan
(RJ)
Jackie Buck
(J)
Matthew S Buckland
(MS)
Teofila Bueser
(T)
Carmen Bugarin Diz
(CB)
Siobhan O Burns
(SO)
Oliver S Burren
(OS)
Paul Calleja
(P)
Jenny Carmichael
(J)
Gerald Carr-White
(G)
Keren J Carss
(KJ)
Ruth Casey
(R)
Elizabeth Chalmers
(E)
Jenny Chambers
(J)
John Chambers
(J)
Melanie M Y Chan
(MMY)
Melissa V Chan
(MV)
Anita Chandra
(A)
Floria Cheng
(F)
Ivan K Chinn
(IK)
Patrick F Chinnery
(PF)
Manali Chitre
(M)
Sam Chong
(S)
Martin T Christian
(MT)
Colin Church
(C)
Emma M Clement
(EM)
Naomi Clements Brod
(NC)
Hayley Clifford
(H)
Virginia E Clowes
(VE)
Gerry Coghlan
(G)
Elizabeth Colby
(E)
Trevor R P Cole
(TRP)
Janine H Collins
(JH)
Peter W Collins
(PW)
Robin Condliffe
(R)
H Terence Cook
(HT)
Stuart Cook
(S)
Victoria Cookson
(V)
Nichola Cooper
(N)
Paul A Corris
(PA)
Amanda Creaser-Myers
(A)
Abigail Crisp-Hihn
(A)
Nicola S Curry
(NS)
Antony J Cutler
(AJ)
Rosa Da Costa
(R)
Cesare Danesino
(C)
Matthew J Daniels
(MJ)
Damaris Darby
(D)
Louise C Daugherty
(LC)
E G Davies
(EG)
Sophie Davies
(S)
John Davis
(J)
Godelieve J de Bree
(GJ)
Sarah Deacock
(S)
Patrick B Deegan
(PB)
Sri V V Deevi
(SVV)
John Dempster
(J)
Timothy Dent
(T)
Charu Deshpande
(C)
Lisa A Devlin
(LA)
Eleanor F Dewhurst
(EF)
Anand K Dixit
(AK)
Peter H Dixon
(PH)
Rainer Doffinger
(R)
Helen Dolling
(H)
Natalie Dormand
(N)
Kate Downes
(K)
Anna M Drazyk
(AM)
Elizabeth Drewe
(E)
Daniel Duarte
(D)
Tina Dutt
(T)
J David M Edgar
(JDM)
Karen E Edwards
(KE)
William Egner
(W)
Melanie N Ekani
(MN)
Tariq El-Shanawany
(T)
Shuayb Elkhalifa
(S)
Tony Elston
(T)
Ingrid Emmerson
(I)
Wendy N Erber
(WN)
Marie Erwood
(M)
Maria C Estiu
(MC)
Dafydd Gareth Evans
(DG)
Gillian Evans
(G)
Tamara Everington
(T)
Mélanie Eyries
(M)
James H R Farmery
(JHR)
Remi Favier
(R)
Helen V Firth
(HV)
Maggie M Fitzpatrick
(MM)
Debra Fletcher
(D)
Frances A Flinter
(FA)
James C Fox
(JC)
Amy J Frary
(AJ)
Courtney E French
(CE)
Kathleen Freson
(K)
Mattia Frontini
(M)
Bruce Furie
(B)
Daniel P Gale
(DP)
Henning J Gall
(HJ)
Alice Gardham
(A)
H Bobby Gaspar
(HB)
Michael Gattens
(M)
Neeti Ghali
(N)
Pavandeep K Ghataorhe
(PK)
Stefano Ghio
(S)
Hossein-Ardeschir Ghofrani
(HA)
Rohit Ghurye
(R)
J Simon R Gibbs
(JSR)
Rodney D Gilbert
(RD)
Kimberly C Gilmour
(KC)
Barbara Girerd
(B)
Joanna C Girling
(JC)
Paul Gissen
(P)
Nicholas S Gleadall
(NS)
Sarah Goddard
(S)
Pavels Gordins
(P)
Kathleen M Gorman
(KM)
David Gosal
(D)
Stefan Graf
(S)
Luigi Grassi
(L)
Daniel Greene
(D)
Alan J Greenhalgh
(AJ)
Lynn Greenhalgh
(L)
Andreas Greinacher
(A)
Paolo Gresele
(P)
Philip G Griffiths
(PG)
Sian Griffiths
(S)
Sofia Grigoriadou
(S)
Detelina Grozeva
(D)
Scott J Hackett
(SJ)
Robert D M Hadden
(RDM)
Charaka Hadinnapola
(C)
Rosie Hague
(R)
William M Hague
(WM)
Matthias Haimel
(M)
Matthew Hall
(M)
Csaba Halmagyi
(C)
Tracey Hammerton
(T)
Helen L Hanson
(HL)
Kirsty Harkness
(K)
Andrew R Harper
(AR)
Lorraine Harper
(L)
Claire Harris
(C)
Claire Harrison
(C)
Daniel Hart
(D)
Ahamad Hassan
(A)
Grant Hayman
(G)
Johan W M Heemskerk
(JWM)
Shivaram Hegde
(S)
Alex Henderson
(A)
Robert H Henderson
(RH)
Anke Hensiek
(A)
Yvonne M C Henskens
(YMC)
Archana Herwadkar
(A)
Joshua Hodgson
(J)
Jonathan Hoffman
(J)
Simon Holden
(S)
Muriel Holder
(M)
Rita Horvath
(R)
Henry Houlden
(H)
Arjan C Houweling
(AC)
Luke S Howard
(LS)
Fengyuan Hu
(F)
Gavin Hudson
(G)
Sean Hughes
(S)
Stephen Hughes
(S)
Anna E Huis In 't Veld
(AE)
Aarnoud P Huissoon
(AP)
Marc Humbert
(M)
Matthew E Hurles
(ME)
Jane A Hurst
(JA)
Val Irvine
(V)
Louise Izatt
(L)
Roger James
(R)
Praveen Jeevaratnam
(P)
Mark Johnson
(M)
Sally A Johnson
(SA)
Stephen Jolles
(S)
Jennifer D Jolley
(JD)
Bryony Jones
(B)
Julie Jones
(J)
Dragana Josifova
(D)
Neringa Jurkute
(N)
Yousuf M Karim
(YM)
Mahantesh A Karoshi
(MA)
Mary A Kasanicki
(MA)
Hanadi Kazkaz
(H)
Rashid Kazmi
(R)
David Keeling
(D)
Peter Kelleher
(P)
Anne M Kelly
(AM)
Carly Kempster
(C)
Fiona Kennedy
(F)
Sorena Kiani
(S)
David G Kiely
(DG)
Nathalie Kingston
(N)
Sally Kinsey
(S)
Nigel Klein
(N)
Robert Klima
(R)
Ellen Knox
(E)
Myrto A Kostadima
(MA)
Gabor Kovacs
(G)
Ania B Koziell
(AB)
Roman Kreuzhuber
(R)
Deepa Krishnakumar
(D)
Taco W Kuijpers
(TW)
Ajith Kumar
(A)
Dinakantha S Kumararatne
(DS)
Manju A Kurian
(MA)
James Laffan
(J)
Michael A Laffan
(MA)
Fiona Lalloo
(F)
Michele P Lambert
(MP)
Hana Lango Allen
(H)
Sarah H A Lawman
(SHA)
Allan Lawrie
(A)
D Mark Layton
(DM)
Sara E Lear
(SE)
Melissa M Lees
(MM)
Claire Lentaigne
(C)
Adam P Levine
(AP)
Andrew J P Lewington
(AJP)
Wei Li
(W)
Ri Liesner
(R)
Rachel J Linger
(RJ)
Bin Liu
(B)
Hilary Longhurst
(H)
Lorena E Lorenzo
(LE)
Eleni Louka
(E)
Silvia Lucato Hadeler
(SL)
Paul A Lyons
(PA)
Malcolm Macdougall
(M)
Rajiv D Machado
(RD)
Robert V MacKenzie Ross
(RV)
Lucy H Mackillop
(LH)
Robert MacLaren
(R)
Bella Madan
(B)
Laura Magee
(L)
Mohamed Mahdi-Rogers
(M)
Eamonn R Maher
(ER)
Jesmeen Maimaris
(J)
Mike Makris
(M)
Sarah Mangles
(S)
Ania Manson
(A)
Adnan Manzur
(A)
Rutendo Mapeta
(R)
Kevin J Marchbank
(KJ)
Patrick B Mark
(PB)
Stephen Marks
(S)
Hugh S Markus
(HS)
Hanns-Ulrich Marschall
(HU)
Andrew Marshall
(A)
Jennifer M Martin
(JM)
Larahmie Masati
(L)
Mary Mathias
(M)
Vera Matser
(V)
Emma L Matthews
(EL)
Anna Maw
(A)
Heather Maxwell
(H)
Paul McAlinden
(P)
Mark I McCarthy
(MI)
Elizabeth M McDermott
(EM)
Simon J McGowan
(SJ)
Coleen McJannet
(C)
Harriet McKinney
(H)
Stuart Meacham
(S)
Adam J Mead
(AJ)
Ignacio Medina Castello
(IM)
Sharon Meehan
(S)
Karyn Megy
(K)
Sarju Mehta
(S)
Catherine L Mercer
(CL)
Michel Michaelides
(M)
Anna C Michell
(AC)
David Milford
(D)
Carolyn M Millar
(CM)
Hazel Millar
(H)
Anoop Mistry
(A)
Floor Moenen
(F)
Shahin Moledina
(S)
David Montani
(D)
Anthony T Moore
(AT)
Jason Moore
(J)
Nicholas W Morrell
(NW)
Valerie Morrisson
(V)
Monika Mozere
(M)
Keith W Muir
(KW)
Andrew D Mumford
(AD)
Sai H K Murng
(SHK)
Iman Nasir
(I)
Sergey Nejentsev
(S)
Michael Newnham
(M)
Joanne Ng
(J)
Adeline Ngoh
(A)
Sadia Noorani
(S)
Muna Noori
(M)
Paquita Nurden
(P)
Jennifer M O'Sullivan
(JM)
Samya Obaji
(S)
Steven Okoli
(S)
Eric Oksenhendler
(E)
Andrea Olschewski
(A)
Horst Olschewski
(H)
Albert C M Ong
(ACM)
Kai Ren Ong
(KR)
Helen Oram
(H)
Elizabeth Ormondroyd
(E)
Shokri Othman
(S)
Willem H Ouwehand
(WH)
Antonis Pantazis
(A)
Sofia Papadia
(S)
Apostolos Papandreou
(A)
Soo-Mi Park
(SM)
Alasdair P J Parker
(APJ)
David Parry
(D)
Georgina Parsons
(G)
K John Pasi
(KJ)
Joan Paterson
(J)
Jeanette H Payne
(JH)
Andrew J Peacock
(AJ)
Kathelijne Peerlinck
(K)
Christopher J Penkett
(CJ)
Joanna Pepke-Zaba
(J)
David Perry
(D)
Romina Petersen
(R)
Bartlomiej Piechowski-Jozwiak
(B)
Fernando Pinto
(F)
Gary J Polwarth
(GJ)
Mark J Ponsford
(MJ)
Sanjay Prasad
(S)
Inga Prokopenko
(I)
Beth Psaila
(B)
Angela Pyle
(A)
Waseem Qasim
(W)
Ellen Quinn
(E)
Isabella Quinti
(I)
Sanjay Raina
(S)
Lavanya Ranganathan
(L)
Julia Rankin
(J)
Stuart Rankin
(S)
Anupama Rao
(A)
F Lucy Raymond
(FL)
Paula J Rayner-Matthews
(PJ)
Karola Rehnstrom
(K)
Evan Reid
(E)
Mary M Reilly
(MM)
Tara Renton
(T)
Shoshana Revel-Vilk
(S)
Christopher J Rhodes
(CJ)
Andrew S C Rice
(ASC)
Emma E Richards
(EE)
Mike Richards
(M)
Sylvia Richardson
(S)
Alex Richter
(A)
Leema Robert
(L)
Irene Roberts
(I)
Matthew T Rondina
(MT)
Elisabeth Rosser
(E)
Peter Rothwell
(P)
Catherine Roughley
(C)
Noemi B Roy
(NB)
Kevin Rue-Albrecht
(K)
Omid Sadeghi-Alavijeh
(O)
Moin A Saleem
(MA)
Richard M Salmon
(RM)
Nilesh J Samani
(NJ)
Crina Samarghitean
(C)
Jennifer G Sambrook
(JG)
Alba Sanchis-Juan
(A)
Richard Sandford
(R)
Saikat Santra
(S)
Ravishankar B Sargur
(RB)
Simon C Satchell
(SC)
Sinisa Savic
(S)
Laura Scelsi
(L)
Gwen Schotte
(G)
Sol Schulman
(S)
Harald Schulze
(H)
Richard Scott
(R)
Marie Scully
(M)
Claire Searle
(C)
Werner Seeger
(W)
Suranjith L Seneviratne
(SL)
W A Carrock Sewell
(WAC)
Denis Seyres
(D)
Fiona Shackley
(F)
Olga Shamardina
(O)
Susan E Shapiro
(SE)
Pankaj Sharma
(P)
Hassan A Shehata
(HA)
Deborah Shipley
(D)
Rakefet Shtoyerman
(R)
Keith Sibson
(K)
Lucy Side
(L)
Ilenia Simeoni
(I)
Michael Simpson
(M)
Matthew C Sims
(MC)
Manish D Sinha
(MD)
Suthesh Sivapalaratnam
(S)
Anne-Bine Skytte
(AB)
Kenneth G C Smith
(KGC)
Katie Snape
(K)
Linda Sneddon
(L)
Aman Sohal
(A)
Florent Soubrier
(F)
Laura Southgate
(L)
Mark Southwood
(M)
Miranda Splitt
(M)
Simon Staines
(S)
Emily Staples
(E)
Hannah Stark
(H)
Hans Stauss
(H)
Cathal L Steele
(CL)
Daniel Stein
(D)
Penelope E Stein
(PE)
Jonathan Stephens
(J)
Kathleen E Stirrups
(KE)
Sophie Stock
(S)
Matthew J Stubbs
(MJ)
Jay Suntharalingam
(J)
Emilia M Swietlik
(EM)
Emily Symington
(E)
R Campbell Tait
(RC)
Kate Talks
(K)
Rhea Y Y Tan
(RYY)
Gordon B Taylor
(GB)
Jecko Thachil
(J)
James E D Thaventhiran
(JED)
Andreas C Themistocleous
(AC)
David C Thomas
(DC)
Ellen Thomas
(E)
Moira J Thomas
(MJ)
Patrick Thomas
(P)
Dorothy A Thompson
(DA)
Kate Thomson
(K)
Adrian J Thrasher
(AJ)
Chantal Thys
(C)
Tobias Tilly
(T)
Marc Tischkowitz
(M)
Catherine Titterton
(C)
John A Todd
(JA)
Cheng-Hock Toh
(CH)
Anton T J Tool
(ATJ)
Mark R Toshner
(MR)
Matthew Traylor
(M)
Carmen M Treacy
(CM)
Paul Treadaway
(P)
Richard C Trembath
(RC)
Sarah Trippier
(S)
Salih Tuna
(S)
Wojciech Turek
(W)
Ernest Turro
(E)
Paul D Upton
(PD)
Rafal Urniaz
(R)
Tom Vale
(T)
Chris Van Geet
(C)
Natalie van Zuydam
(N)
Anthony M Vandersteen
(AM)
Marta Vazquez-Lopez
(M)
Marijcke W M Veltman
(MWM)
Julie Vogt
(J)
Julie von Ziegenweidt
(J)
Anton Vonk Noordegraaf
(A)
Ajay Vora
(A)
Minka J A Vries
(MJA)
Emma L Wakeling
(EL)
Neil Walker
(N)
Suellen M Walker
(SM)
Roddy Walsh
(R)
Ivy Wanjiku
(I)
James S Ware
(JS)
Timothy Q Warner
(TQ)
Evangeline Wassmer
(E)
Hugh Watkins
(H)
Henry G Watson
(HG)
Christopher Watt
(C)
Dean Waugh
(D)
Nick Webb
(N)
Andrew R Webster
(AR)
Wei Wei
(W)
Angela Welch
(A)
Steven B Welch
(SB)
David Werring
(D)
Julie Wessels
(J)
Sarah K Westbury
(SK)
John-Paul W Westwood
(JW)
John Wharton
(J)
Deborah Whitehorn
(D)
James Whitworth
(J)
Martin R Wilkins
(MR)
Lisa Willcocks
(L)
David J Williams
(DJ)
Catherine Williamson
(C)
Edwin K S Wong
(EKS)
Nicholas Wood
(N)
Yvette Wood
(Y)
Christopher Geoffrey Woods
(CG)
Emma R Woodward
(ER)
Sarita Workman
(S)
Stephen J Wort
(SJ)
Austen Worth
(A)
Katherine Yates
(K)
Nigel Yeatman
(N)
Patrick F K Yong
(PFK)
Timothy Young
(T)
Ping Yu
(P)
Patrick Yu-Wai-Man
(P)
Eliska Zlamalova
(E)
Commentaires et corrections
Type : ErratumIn
Références
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