Etiology
Schuetz C,
Gerke J,
Ege M,
Walter J,
Kusters M,
Worth A,
Kanakry JA,
Dimitrova D,
Wolska-Kuśnierz B,
Chen K,
Unal E,
Karakukcu M,
Pashchenko O,
Leiding J,
Kawai T,
Amrolia PJ,
Berghuis D,
Buechner J,
Buchbinder D,
Cowan MJ,
Gennery AR,
Güngör T,
Heimall J,
Miano M,
Meyts I,
Morris EC,
Rivière J,
Sharapova SO,
Shaw PJ,
Slatter M,
Honig M,
Veys P,
Fischer A,
Cavazzana M,
Moshous D,
Schulz A,
Albert MH,
Puck JM,
Lankester AC,
Notarangelo LD,
Neven B
Blood
2023 Feb 16;141(7):713-724.
doi: 10.1182/blood.2022017667.
PMID: 36279417Free PMC Article
Cifaldi C,
Rivalta B,
Amodio D,
Mattia A,
Pacillo L,
Di Cesare S,
Chiriaco M,
Ursu GM,
Cotugno N,
Giancotta C,
Manno EC,
Santilli V,
Zangari P,
Federica G,
Palumbo G,
Merli P,
Palma P,
Rossi P,
Di Matteo G,
Locatelli F,
Finocchi A,
Cancrini C
J Clin Immunol
2022 Jan;42(1):130-145.
Epub 2021 Oct 18
doi: 10.1007/s10875-021-01130-3.
PMID: 34664192Free PMC Article
Bosticardo M,
Pala F,
Notarangelo LD
Eur J Immunol
2021 May;51(5):1028-1038.
Epub 2021 Mar 22
doi: 10.1002/eji.202048880.
PMID: 33682138Free PMC Article
Delmonte OM,
Villa A,
Notarangelo LD
Blood
2020 Feb 27;135(9):610-619.
doi: 10.1182/blood.2019000923.
PMID: 31942628Free PMC Article
Meshaal SS,
El Hawary RE,
Abd Elaziz DS,
Eldash A,
Alkady R,
Lotfy S,
Mauracher AA,
Opitz L,
Pachlopnik Schmid J,
van der Burg M,
Chou J,
Galal NM,
Boutros JA,
Geha R,
Elmarsafy AM
Clin Exp Immunol
2019 Feb;195(2):202-212.
Epub 2018 Nov 4
doi: 10.1111/cei.13222.
PMID: 30307608Free PMC Article
Diagnosis
Schuetz C,
Gerke J,
Ege M,
Walter J,
Kusters M,
Worth A,
Kanakry JA,
Dimitrova D,
Wolska-Kuśnierz B,
Chen K,
Unal E,
Karakukcu M,
Pashchenko O,
Leiding J,
Kawai T,
Amrolia PJ,
Berghuis D,
Buechner J,
Buchbinder D,
Cowan MJ,
Gennery AR,
Güngör T,
Heimall J,
Miano M,
Meyts I,
Morris EC,
Rivière J,
Sharapova SO,
Shaw PJ,
Slatter M,
Honig M,
Veys P,
Fischer A,
Cavazzana M,
Moshous D,
Schulz A,
Albert MH,
Puck JM,
Lankester AC,
Notarangelo LD,
Neven B
Blood
2023 Feb 16;141(7):713-724.
doi: 10.1182/blood.2022017667.
PMID: 36279417Free PMC Article
Cifaldi C,
Rivalta B,
Amodio D,
Mattia A,
Pacillo L,
Di Cesare S,
Chiriaco M,
Ursu GM,
Cotugno N,
Giancotta C,
Manno EC,
Santilli V,
Zangari P,
Federica G,
Palumbo G,
Merli P,
Palma P,
Rossi P,
Di Matteo G,
Locatelli F,
Finocchi A,
Cancrini C
J Clin Immunol
2022 Jan;42(1):130-145.
Epub 2021 Oct 18
doi: 10.1007/s10875-021-01130-3.
PMID: 34664192Free PMC Article
Bosticardo M,
Pala F,
Notarangelo LD
Eur J Immunol
2021 May;51(5):1028-1038.
Epub 2021 Mar 22
doi: 10.1002/eji.202048880.
PMID: 33682138Free PMC Article
Meshaal SS,
El Hawary RE,
Abd Elaziz DS,
Eldash A,
Alkady R,
Lotfy S,
Mauracher AA,
Opitz L,
Pachlopnik Schmid J,
van der Burg M,
Chou J,
Galal NM,
Boutros JA,
Geha R,
Elmarsafy AM
Clin Exp Immunol
2019 Feb;195(2):202-212.
Epub 2018 Nov 4
doi: 10.1111/cei.13222.
PMID: 30307608Free PMC Article
Dutmer CM,
Asturias EJ,
Smith C,
Dishop MK,
Schmid DS,
Bellini WJ,
Tirosh I,
Lee YN,
Notarangelo LD,
Gelfand EW
J Clin Immunol
2015 Nov;35(8):754-60.
Epub 2015 Oct 29
doi: 10.1007/s10875-015-0207-8.
PMID: 26515615Free PMC Article
Therapy
Castiello MC,
Di Verniere M,
Draghici E,
Fontana E,
Penna S,
Sereni L,
Zecchillo A,
Minuta D,
Uva P,
Zahn M,
Gil-Farina I,
Annoni A,
Iaia S,
Ott de Bruin LM,
Notarangelo LD,
Pike-Overzet K,
Staal FJT,
Villa A,
Capo V
Front Immunol
2023;14:1268620.
Epub 2023 Nov 13
doi: 10.3389/fimmu.2023.1268620.
PMID: 38022635Free PMC Article
Schuetz C,
Gerke J,
Ege M,
Walter J,
Kusters M,
Worth A,
Kanakry JA,
Dimitrova D,
Wolska-Kuśnierz B,
Chen K,
Unal E,
Karakukcu M,
Pashchenko O,
Leiding J,
Kawai T,
Amrolia PJ,
Berghuis D,
Buechner J,
Buchbinder D,
Cowan MJ,
Gennery AR,
Güngör T,
Heimall J,
Miano M,
Meyts I,
Morris EC,
Rivière J,
Sharapova SO,
Shaw PJ,
Slatter M,
Honig M,
Veys P,
Fischer A,
Cavazzana M,
Moshous D,
Schulz A,
Albert MH,
Puck JM,
Lankester AC,
Notarangelo LD,
Neven B
Blood
2023 Feb 16;141(7):713-724.
doi: 10.1182/blood.2022017667.
PMID: 36279417Free PMC Article
John T,
Walter JE,
Schuetz C,
Chen K,
Abraham RS,
Bonfim C,
Boyce TG,
Joshi AY,
Kang E,
Carvalho BT,
Mahajerin A,
Nugent D,
Puthenveetil G,
Soni A,
Su H,
Cowan MJ,
Notarangelo L,
Buchbinder D
J Clin Immunol
2016 Oct;36(7):725-32.
Epub 2016 Aug 18
doi: 10.1007/s10875-016-0326-x.
PMID: 27539235Free PMC Article
Dutmer CM,
Asturias EJ,
Smith C,
Dishop MK,
Schmid DS,
Bellini WJ,
Tirosh I,
Lee YN,
Notarangelo LD,
Gelfand EW
J Clin Immunol
2015 Nov;35(8):754-60.
Epub 2015 Oct 29
doi: 10.1007/s10875-015-0207-8.
PMID: 26515615Free PMC Article
Morinishi Y,
Imai K,
Nakagawa N,
Sato H,
Horiuchi K,
Ohtsuka Y,
Kaneda Y,
Taga T,
Hisakawa H,
Miyaji R,
Endo M,
Oh-Ishi T,
Kamachi Y,
Akahane K,
Kobayashi C,
Tsuchida M,
Morio T,
Sasahara Y,
Kumaki S,
Ishigaki K,
Yoshida M,
Urabe T,
Kobayashi N,
Okimoto Y,
Reichenbach J,
Hashii Y,
Tsuji Y,
Kogawa K,
Yamaguchi S,
Kanegane H,
Miyawaki T,
Yamada M,
Ariga T,
Nonoyama S
J Pediatr
2009 Dec;155(6):829-33.
Epub 2009 Jul 22
doi: 10.1016/j.jpeds.2009.05.026.
PMID: 19628217
Prognosis
Schuetz C,
Gerke J,
Ege M,
Walter J,
Kusters M,
Worth A,
Kanakry JA,
Dimitrova D,
Wolska-Kuśnierz B,
Chen K,
Unal E,
Karakukcu M,
Pashchenko O,
Leiding J,
Kawai T,
Amrolia PJ,
Berghuis D,
Buechner J,
Buchbinder D,
Cowan MJ,
Gennery AR,
Güngör T,
Heimall J,
Miano M,
Meyts I,
Morris EC,
Rivière J,
Sharapova SO,
Shaw PJ,
Slatter M,
Honig M,
Veys P,
Fischer A,
Cavazzana M,
Moshous D,
Schulz A,
Albert MH,
Puck JM,
Lankester AC,
Notarangelo LD,
Neven B
Blood
2023 Feb 16;141(7):713-724.
doi: 10.1182/blood.2022017667.
PMID: 36279417Free PMC Article
Min Q,
Meng X,
Zhou Q,
Wang Y,
Li Y,
Lai N,
Xiong E,
Wang W,
Yasuda S,
Yu M,
Zhang H,
Sun J,
Wang X,
Wang JY
JCI Insight
2021 Oct 8;6(19)
doi: 10.1172/jci.insight.148887.
PMID: 34622798Free PMC Article
Morinishi Y,
Imai K,
Nakagawa N,
Sato H,
Horiuchi K,
Ohtsuka Y,
Kaneda Y,
Taga T,
Hisakawa H,
Miyaji R,
Endo M,
Oh-Ishi T,
Kamachi Y,
Akahane K,
Kobayashi C,
Tsuchida M,
Morio T,
Sasahara Y,
Kumaki S,
Ishigaki K,
Yoshida M,
Urabe T,
Kobayashi N,
Okimoto Y,
Reichenbach J,
Hashii Y,
Tsuji Y,
Kogawa K,
Yamaguchi S,
Kanegane H,
Miyawaki T,
Yamada M,
Ariga T,
Nonoyama S
J Pediatr
2009 Dec;155(6):829-33.
Epub 2009 Jul 22
doi: 10.1016/j.jpeds.2009.05.026.
PMID: 19628217
Clinical prediction guides
Pala F,
Corsino C,
Calzoni E,
Villa A,
Pittaluga S,
Palchaudhuri R,
Bosticardo M,
Notarangelo LD
J Allergy Clin Immunol
2024 Jan;153(1):341-348.e3.
Epub 2023 Aug 9
doi: 10.1016/j.jaci.2023.07.017.
PMID: 37567393
Castiello MC,
Di Verniere M,
Draghici E,
Fontana E,
Penna S,
Sereni L,
Zecchillo A,
Minuta D,
Uva P,
Zahn M,
Gil-Farina I,
Annoni A,
Iaia S,
Ott de Bruin LM,
Notarangelo LD,
Pike-Overzet K,
Staal FJT,
Villa A,
Capo V
Front Immunol
2023;14:1268620.
Epub 2023 Nov 13
doi: 10.3389/fimmu.2023.1268620.
PMID: 38022635Free PMC Article
Schuetz C,
Gerke J,
Ege M,
Walter J,
Kusters M,
Worth A,
Kanakry JA,
Dimitrova D,
Wolska-Kuśnierz B,
Chen K,
Unal E,
Karakukcu M,
Pashchenko O,
Leiding J,
Kawai T,
Amrolia PJ,
Berghuis D,
Buechner J,
Buchbinder D,
Cowan MJ,
Gennery AR,
Güngör T,
Heimall J,
Miano M,
Meyts I,
Morris EC,
Rivière J,
Sharapova SO,
Shaw PJ,
Slatter M,
Honig M,
Veys P,
Fischer A,
Cavazzana M,
Moshous D,
Schulz A,
Albert MH,
Puck JM,
Lankester AC,
Notarangelo LD,
Neven B
Blood
2023 Feb 16;141(7):713-724.
doi: 10.1182/blood.2022017667.
PMID: 36279417Free PMC Article
Lugo-Reyes SO,
Pastor N,
González-Serrano E,
Yamazaki-Nakashimada MA,
Scheffler-Mendoza S,
Berron-Ruiz L,
Wakida G,
Nuñez-Nuñez ME,
Macias-Robles AP,
Staines-Boone AT,
Venegas-Montoya E,
Alaez-Verson C,
Molina-Garay C,
Flores-Lagunes LL,
Carrillo-Sanchez K,
Niemela J,
Rosenzweig SD,
Gaytan P,
Yañez JA,
Martinez-Duncker I,
Notarangelo LD,
Espinosa-Padilla S,
Cruz-Munoz ME
J Clin Immunol
2021 Aug;41(6):1291-1302.
Epub 2021 May 5
doi: 10.1007/s10875-021-01052-0.
PMID: 33954879Free PMC Article
Morinishi Y,
Imai K,
Nakagawa N,
Sato H,
Horiuchi K,
Ohtsuka Y,
Kaneda Y,
Taga T,
Hisakawa H,
Miyaji R,
Endo M,
Oh-Ishi T,
Kamachi Y,
Akahane K,
Kobayashi C,
Tsuchida M,
Morio T,
Sasahara Y,
Kumaki S,
Ishigaki K,
Yoshida M,
Urabe T,
Kobayashi N,
Okimoto Y,
Reichenbach J,
Hashii Y,
Tsuji Y,
Kogawa K,
Yamaguchi S,
Kanegane H,
Miyawaki T,
Yamada M,
Ariga T,
Nonoyama S
J Pediatr
2009 Dec;155(6):829-33.
Epub 2009 Jul 22
doi: 10.1016/j.jpeds.2009.05.026.
PMID: 19628217