Etiology
Thaventhiran JED,
Lango Allen H,
Burren OS,
Rae W,
Greene D,
Staples E,
Zhang Z,
Farmery JHR,
Simeoni I,
Rivers E,
Maimaris J,
Penkett CJ,
Stephens J,
Deevi SVV,
Sanchis-Juan A,
Gleadall NS,
Thomas MJ,
Sargur RB,
Gordins P,
Baxendale HE,
Brown M,
Tuijnenburg P,
Worth A,
Hanson S,
Linger RJ,
Buckland MS,
Rayner-Matthews PJ,
Gilmour KC,
Samarghitean C,
Seneviratne SL,
Sansom DM,
Lynch AG,
Megy K,
Ellinghaus E,
Ellinghaus D,
Jorgensen SF,
Karlsen TH,
Stirrups KE,
Cutler AJ,
Kumararatne DS,
Chandra A,
Edgar JDM,
Herwadkar A,
Cooper N,
Grigoriadou S,
Huissoon AP,
Goddard S,
Jolles S,
Schuetz C,
Boschann F;
Primary Immunodeficiency Consortium for the NIHR Bioresource,
Lyons PA,
Hurles ME,
Savic S,
Burns SO,
Kuijpers TW,
Turro E,
Ouwehand WH,
Thrasher AJ,
Smith KGC
Nature
2020 Jul;583(7814):90-95.
Epub 2020 May 6
doi: 10.1038/s41586-020-2265-1.
PMID: 32499645Free PMC Article
Song J,
Lleo A,
Yang GX,
Zhang W,
Bowlus CL,
Gershwin ME,
Leung PSC
Clin Rev Allergy Immunol
2018 Dec;55(3):340-351.
doi: 10.1007/s12016-017-8638-z.
PMID: 28785926Free PMC Article
Baldovino S,
Menegatti E,
Roccatello D,
Sciascia S
Adv Exp Med Biol
2017;1031:497-509.
doi: 10.1007/978-3-319-67144-4_26.
PMID: 29214588
Abdel-Wahab N,
Lopez-Olivo MA,
Pinto-Patarroyo GP,
Suarez-Almazor ME
Lupus
2016 Dec;25(14):1520-1531.
Epub 2016 Apr 7
doi: 10.1177/0961203316640912.
PMID: 27060064Free PMC Article
Salzer U,
Bacchelli C,
Buckridge S,
Pan-Hammarström Q,
Jennings S,
Lougaris V,
Bergbreiter A,
Hagena T,
Birmelin J,
Plebani A,
Webster AD,
Peter HH,
Suez D,
Chapel H,
McLean-Tooke A,
Spickett GP,
Anover-Sombke S,
Ochs HD,
Urschel S,
Belohradsky BH,
Ugrinovic S,
Kumararatne DS,
Lawrence TC,
Holm AM,
Franco JL,
Schulze I,
Schneider P,
Gertz EM,
Schäffer AA,
Hammarström L,
Thrasher AJ,
Gaspar HB,
Grimbacher B
Blood
2009 Feb 26;113(9):1967-76.
Epub 2008 Nov 3
doi: 10.1182/blood-2008-02-141937.
PMID: 18981294Free PMC Article
Diagnosis
Hägele P,
Staus P,
Scheible R,
Uhlmann A,
Heeg M,
Klemann C,
Maccari ME,
Ritterbusch H,
Armstrong M,
Cutcutache I,
Elliott KS,
von Bernuth H,
Leahy TR,
Leyh J,
Holzinger D,
Lehmberg K,
Svec P,
Masjosthusmann K,
Hambleton S,
Jakob M,
Sparber-Sauer M,
Kager L,
Puzik A,
Wolkewitz M,
Lorenz MR,
Schwarz K,
Speckmann C,
Rensing-Ehl A,
Ehl S;
ALPID study group
Lancet Haematol
2024 Feb;11(2):e114-e126.
doi: 10.1016/S2352-3026(23)00362-9.
PMID: 38302222
Song J,
Lleo A,
Yang GX,
Zhang W,
Bowlus CL,
Gershwin ME,
Leung PSC
Clin Rev Allergy Immunol
2018 Dec;55(3):340-351.
doi: 10.1007/s12016-017-8638-z.
PMID: 28785926Free PMC Article
Baldovino S,
Menegatti E,
Roccatello D,
Sciascia S
Adv Exp Med Biol
2017;1031:497-509.
doi: 10.1007/978-3-319-67144-4_26.
PMID: 29214588
Hurst JR,
Verma N,
Lowe D,
Baxendale HE,
Jolles S,
Kelleher P,
Longhurst HJ,
Patel SY,
Renzoni EA,
Sander CR,
Avery GR,
Babar JL,
Buckland MS,
Burns S,
Egner W,
Gompels MM,
Gordins P,
Haddock JA,
Hart SP,
Hayman GR,
Herriot R,
Hoyles RK,
Huissoon AP,
Jacob J,
Nicholson AG,
Rassl DM,
Sargur RB,
Savic S,
Seneviratne SL,
Sheaff M,
Vaitla PM,
Walters GI,
Whitehouse JL,
Wright PA,
Condliffe AM
J Allergy Clin Immunol Pract
2017 Jul-Aug;5(4):938-945.
Epub 2017 Mar 25
doi: 10.1016/j.jaip.2017.01.021.
PMID: 28351785
Ferri C
Orphanet J Rare Dis
2008 Sep 16;3:25.
doi: 10.1186/1750-1172-3-25.
PMID: 18796155Free PMC Article
Therapy
Crider K,
Williams J,
Qi YP,
Gutman J,
Yeung L,
Mai C,
Finkelstain J,
Mehta S,
Pons-Duran C,
Menéndez C,
Moraleda C,
Rogers L,
Daniels K,
Green P
Cochrane Database Syst Rev
2022 Feb 1;2(2022)
doi: 10.1002/14651858.CD014217.
PMID: 36321557Free PMC Article
Woodward J,
Gkrania-Klotsas E,
Kumararatne D
Clin Exp Immunol
2017 Jun;188(3):363-370.
Epub 2016 Nov 16
doi: 10.1111/cei.12884.
PMID: 27753065Free PMC Article
Dong J,
Liang H,
Wen D,
Wang J
Am J Med Sci
2016 Mar;351(3):239-43.
doi: 10.1016/j.amjms.2015.12.010.
PMID: 26992251
Vincent FB,
Saulep-Easton D,
Figgett WA,
Fairfax KA,
Mackay F
Cytokine Growth Factor Rev
2013 Jun;24(3):203-15.
Epub 2013 May 15
doi: 10.1016/j.cytogfr.2013.04.003.
PMID: 23684423Free PMC Article
Ferri C
Orphanet J Rare Dis
2008 Sep 16;3:25.
doi: 10.1186/1750-1172-3-25.
PMID: 18796155Free PMC Article
Prognosis
Crider K,
Williams J,
Qi YP,
Gutman J,
Yeung L,
Mai C,
Finkelstain J,
Mehta S,
Pons-Duran C,
Menéndez C,
Moraleda C,
Rogers L,
Daniels K,
Green P
Cochrane Database Syst Rev
2022 Feb 1;2(2022)
doi: 10.1002/14651858.CD014217.
PMID: 36321557Free PMC Article
Green PHR,
Paski S,
Ko CW,
Rubio-Tapia A
Gastroenterology
2022 Nov;163(5):1461-1469.
Epub 2022 Sep 19
doi: 10.1053/j.gastro.2022.07.086.
PMID: 36137844
Lorenzini T,
Fliegauf M,
Klammer N,
Frede N,
Proietti M,
Bulashevska A,
Camacho-Ordonez N,
Varjosalo M,
Kinnunen M,
de Vries E,
van der Meer JWM,
Ameratunga R,
Roifman CM,
Schejter YD,
Kobbe R,
Hautala T,
Atschekzei F,
Schmidt RE,
Schröder C,
Stepensky P,
Shadur B,
Pedroza LA,
van der Flier M,
Martínez-Gallo M,
Gonzalez-Granado LI,
Allende LM,
Shcherbina A,
Kuzmenko N,
Zakharova V,
Neves JF,
Svec P,
Fischer U,
Ip W,
Bartsch O,
Barış S,
Klein C,
Geha R,
Chou J,
Alosaimi M,
Weintraub L,
Boztug K,
Hirschmugl T,
Dos Santos Vilela MM,
Holzinger D,
Seidl M,
Lougaris V,
Plebani A,
Alsina L,
Piquer-Gibert M,
Deyà-Martínez A,
Slade CA,
Aghamohammadi A,
Abolhassani H,
Hammarström L,
Kuismin O,
Helminen M,
Allen HL,
Thaventhiran JE,
Freeman AF,
Cook M,
Bakhtiar S,
Christiansen M,
Cunningham-Rundles C,
Patel NC,
Rae W,
Niehues T,
Brauer N,
Syrjänen J,
Seppänen MRJ,
Burns SO,
Tuijnenburg P,
Kuijpers TW;
NIHR BioResource,
Warnatz K,
Grimbacher B;
NIHR BioResource
J Allergy Clin Immunol
2020 Oct;146(4):901-911.
Epub 2020 Apr 9
doi: 10.1016/j.jaci.2019.11.051.
PMID: 32278790Free PMC Article
Song J,
Lleo A,
Yang GX,
Zhang W,
Bowlus CL,
Gershwin ME,
Leung PSC
Clin Rev Allergy Immunol
2018 Dec;55(3):340-351.
doi: 10.1007/s12016-017-8638-z.
PMID: 28785926Free PMC Article
Baldovino S,
Menegatti E,
Roccatello D,
Sciascia S
Adv Exp Med Biol
2017;1031:497-509.
doi: 10.1007/978-3-319-67144-4_26.
PMID: 29214588
Clinical prediction guides
Crider K,
Williams J,
Qi YP,
Gutman J,
Yeung L,
Mai C,
Finkelstain J,
Mehta S,
Pons-Duran C,
Menéndez C,
Moraleda C,
Rogers L,
Daniels K,
Green P
Cochrane Database Syst Rev
2022 Feb 1;2(2022)
doi: 10.1002/14651858.CD014217.
PMID: 36321557Free PMC Article
Thaventhiran JED,
Lango Allen H,
Burren OS,
Rae W,
Greene D,
Staples E,
Zhang Z,
Farmery JHR,
Simeoni I,
Rivers E,
Maimaris J,
Penkett CJ,
Stephens J,
Deevi SVV,
Sanchis-Juan A,
Gleadall NS,
Thomas MJ,
Sargur RB,
Gordins P,
Baxendale HE,
Brown M,
Tuijnenburg P,
Worth A,
Hanson S,
Linger RJ,
Buckland MS,
Rayner-Matthews PJ,
Gilmour KC,
Samarghitean C,
Seneviratne SL,
Sansom DM,
Lynch AG,
Megy K,
Ellinghaus E,
Ellinghaus D,
Jorgensen SF,
Karlsen TH,
Stirrups KE,
Cutler AJ,
Kumararatne DS,
Chandra A,
Edgar JDM,
Herwadkar A,
Cooper N,
Grigoriadou S,
Huissoon AP,
Goddard S,
Jolles S,
Schuetz C,
Boschann F;
Primary Immunodeficiency Consortium for the NIHR Bioresource,
Lyons PA,
Hurles ME,
Savic S,
Burns SO,
Kuijpers TW,
Turro E,
Ouwehand WH,
Thrasher AJ,
Smith KGC
Nature
2020 Jul;583(7814):90-95.
Epub 2020 May 6
doi: 10.1038/s41586-020-2265-1.
PMID: 32499645Free PMC Article
Lorenzini T,
Fliegauf M,
Klammer N,
Frede N,
Proietti M,
Bulashevska A,
Camacho-Ordonez N,
Varjosalo M,
Kinnunen M,
de Vries E,
van der Meer JWM,
Ameratunga R,
Roifman CM,
Schejter YD,
Kobbe R,
Hautala T,
Atschekzei F,
Schmidt RE,
Schröder C,
Stepensky P,
Shadur B,
Pedroza LA,
van der Flier M,
Martínez-Gallo M,
Gonzalez-Granado LI,
Allende LM,
Shcherbina A,
Kuzmenko N,
Zakharova V,
Neves JF,
Svec P,
Fischer U,
Ip W,
Bartsch O,
Barış S,
Klein C,
Geha R,
Chou J,
Alosaimi M,
Weintraub L,
Boztug K,
Hirschmugl T,
Dos Santos Vilela MM,
Holzinger D,
Seidl M,
Lougaris V,
Plebani A,
Alsina L,
Piquer-Gibert M,
Deyà-Martínez A,
Slade CA,
Aghamohammadi A,
Abolhassani H,
Hammarström L,
Kuismin O,
Helminen M,
Allen HL,
Thaventhiran JE,
Freeman AF,
Cook M,
Bakhtiar S,
Christiansen M,
Cunningham-Rundles C,
Patel NC,
Rae W,
Niehues T,
Brauer N,
Syrjänen J,
Seppänen MRJ,
Burns SO,
Tuijnenburg P,
Kuijpers TW;
NIHR BioResource,
Warnatz K,
Grimbacher B;
NIHR BioResource
J Allergy Clin Immunol
2020 Oct;146(4):901-911.
Epub 2020 Apr 9
doi: 10.1016/j.jaci.2019.11.051.
PMID: 32278790Free PMC Article
Hurst JR,
Verma N,
Lowe D,
Baxendale HE,
Jolles S,
Kelleher P,
Longhurst HJ,
Patel SY,
Renzoni EA,
Sander CR,
Avery GR,
Babar JL,
Buckland MS,
Burns S,
Egner W,
Gompels MM,
Gordins P,
Haddock JA,
Hart SP,
Hayman GR,
Herriot R,
Hoyles RK,
Huissoon AP,
Jacob J,
Nicholson AG,
Rassl DM,
Sargur RB,
Savic S,
Seneviratne SL,
Sheaff M,
Vaitla PM,
Walters GI,
Whitehouse JL,
Wright PA,
Condliffe AM
J Allergy Clin Immunol Pract
2017 Jul-Aug;5(4):938-945.
Epub 2017 Mar 25
doi: 10.1016/j.jaip.2017.01.021.
PMID: 28351785
Abdel-Wahab N,
Lopez-Olivo MA,
Pinto-Patarroyo GP,
Suarez-Almazor ME
Lupus
2016 Dec;25(14):1520-1531.
Epub 2016 Apr 7
doi: 10.1177/0961203316640912.
PMID: 27060064Free PMC Article