Etiology
Maccari ME,
Wolkewitz M,
Schwab C,
Lorenzini T,
Leiding JW,
Aladjdi N,
Abolhassani H,
Abou-Chahla W,
Aiuti A,
Azarnoush S,
Baris S,
Barlogis V,
Barzaghi F,
Baumann U,
Bloomfield M,
Bohynikova N,
Bodet D,
Boutboul D,
Bucciol G,
Buckland MS,
Burns SO,
Cancrini C,
Cathébras P,
Cavazzana M,
Cheminant M,
Chinello M,
Ciznar P,
Coulter TI,
D'Aveni M,
Ekwall O,
Eric Z,
Eren E,
Fasth A,
Frange P,
Fournier B,
Garcia-Prat M,
Gardembas M,
Geier C,
Ghosh S,
Goda V,
Hammarström L,
Hauck F,
Heeg M,
Heropolitanska-Pliszka E,
Hilfanova A,
Jolles S,
Karakoc-Aydiner E,
Kindle GR,
Kiykim A,
Klemann C,
Koletsi P,
Koltan S,
Kondratenko I,
Körholz J,
Krüger R,
Jeziorski E,
Levy R,
Le Guenno G,
Lefevre G,
Lougaris V,
Marzollo A,
Mahlaoui N,
Malphettes M,
Meinhardt A,
Merlin E,
Meyts I,
Milota T,
Moreira F,
Moshous D,
Mukhina A,
Neth O,
Neubert J,
Neven B,
Nieters A,
Nove-Josserand R,
Oksenhendler E,
Ozen A,
Olbrich P,
Perlat A,
Pac M,
Schmid JP,
Pacillo L,
Parra-Martinez A,
Paschenko O,
Pellier I,
Sefer AP,
Plebani A,
Plantaz D,
Prader S,
Raffray L,
Ritterbusch H,
Riviere JG,
Rivalta B,
Rusch S,
Sakovich I,
Savic S,
Scheible R,
Schleinitz N,
Schuetz C,
Schulz A,
Sediva A,
Semeraro M,
Sharapova SO,
Shcherbina A,
Slatter MA,
Sogkas G,
Soler-Palacin P,
Speckmann C,
Stephan JL,
Suarez F,
Tommasini A,
Trück J,
Uhlmann A,
van Aerde KJ,
van Montfrans J,
von Bernuth H,
Warnatz K,
Williams T,
Worth AJJ,
Ip W,
Picard C,
Catherinot E,
Nademi Z,
Grimbacher B,
Forbes Satter LR,
Kracker S,
Chandra A,
Condliffe AM,
Ehl S;
European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol
2023 Oct;152(4):984-996.e10.
Epub 2023 Jun 28
doi: 10.1016/j.jaci.2023.06.015.
PMID: 37390899
Wang J,
Xiu J,
Farrell A,
Baca Y,
Arai H,
Battaglin F,
Kawanishi N,
Soni S,
Zhang W,
Millstein J,
Shields AF,
Grothey A,
Weinberg BA,
Marshall JL,
Lou E,
Khushman M,
Sohal DPS,
Hall MJ,
Liu T,
Oberley M,
Spetzler D,
Korn WM,
Shen L,
Lenz HJ
Lancet Oncol
2023 Feb;24(2):151-161.
Epub 2023 Jan 18
doi: 10.1016/S1470-2045(22)00783-5.
PMID: 36681091Free PMC Article
López-Nevado M,
González-Granado LI,
Ruiz-García R,
Pleguezuelo D,
Cabrera-Marante O,
Salmón N,
Blanco-Lobo P,
Domínguez-Pinilla N,
Rodríguez-Pena R,
Sebastián E,
Cruz-Rojo J,
Olbrich P,
Ruiz-Contreras J,
Paz-Artal E,
Neth O,
Allende LM
Front Immunol
2021;12:671755.
Epub 2021 Aug 10
doi: 10.3389/fimmu.2021.671755.
PMID: 34447369Free PMC Article
Nunes-Santos CJ,
Uzel G,
Rosenzweig SD
J Allergy Clin Immunol
2019 May;143(5):1676-1687.
doi: 10.1016/j.jaci.2019.03.017.
PMID: 31060715
Cancer Genome Atlas Research Network
Nature
2008 Oct 23;455(7216):1061-8.
Epub 2008 Sep 4
doi: 10.1038/nature07385.
PMID: 18772890Free PMC Article
Diagnosis
Moriya K,
Mitsui-Sekinaka K,
Sekinaka Y,
Endo A,
Kanegane H,
Morio T,
Imai K,
Nonoyama S
Immunol Med
2023 Dec;46(4):153-157.
Epub 2023 May 13
doi: 10.1080/25785826.2023.2210366.
PMID: 37178059
López-Nevado M,
González-Granado LI,
Ruiz-García R,
Pleguezuelo D,
Cabrera-Marante O,
Salmón N,
Blanco-Lobo P,
Domínguez-Pinilla N,
Rodríguez-Pena R,
Sebastián E,
Cruz-Rojo J,
Olbrich P,
Ruiz-Contreras J,
Paz-Artal E,
Neth O,
Allende LM
Front Immunol
2021;12:671755.
Epub 2021 Aug 10
doi: 10.3389/fimmu.2021.671755.
PMID: 34447369Free PMC Article
Coulter TI,
Cant AJ
Front Immunol
2018;9:2043.
Epub 2018 Sep 7
doi: 10.3389/fimmu.2018.02043.
PMID: 30245694Free PMC Article
Oda K,
Hamanishi J,
Matsuo K,
Hasegawa K
Gynecol Oncol
2018 Nov;151(2):381-389.
Epub 2018 Sep 12
doi: 10.1016/j.ygyno.2018.09.001.
PMID: 30217369Free PMC Article
Domené HM,
Fierro-Carrión G
Growth Horm IGF Res
2018 Feb;38:19-23.
Epub 2017 Dec 12
doi: 10.1016/j.ghir.2017.12.004.
PMID: 29249625
Therapy
Moriya K,
Mitsui-Sekinaka K,
Sekinaka Y,
Endo A,
Kanegane H,
Morio T,
Imai K,
Nonoyama S
Immunol Med
2023 Dec;46(4):153-157.
Epub 2023 May 13
doi: 10.1080/25785826.2023.2210366.
PMID: 37178059
Wang J,
Xiu J,
Farrell A,
Baca Y,
Arai H,
Battaglin F,
Kawanishi N,
Soni S,
Zhang W,
Millstein J,
Shields AF,
Grothey A,
Weinberg BA,
Marshall JL,
Lou E,
Khushman M,
Sohal DPS,
Hall MJ,
Liu T,
Oberley M,
Spetzler D,
Korn WM,
Shen L,
Lenz HJ
Lancet Oncol
2023 Feb;24(2):151-161.
Epub 2023 Jan 18
doi: 10.1016/S1470-2045(22)00783-5.
PMID: 36681091Free PMC Article
Coulter TI,
Cant AJ
Front Immunol
2018;9:2043.
Epub 2018 Sep 7
doi: 10.3389/fimmu.2018.02043.
PMID: 30245694Free PMC Article
Cohen JI
Front Immunol
2018;9:237.
Epub 2018 Feb 23
doi: 10.3389/fimmu.2018.00237.
PMID: 29599765Free PMC Article
Condliffe AM,
Chandra A
Front Immunol
2018;9:338.
Epub 2018 Mar 5
doi: 10.3389/fimmu.2018.00338.
PMID: 29556229Free PMC Article
Prognosis
Maccari ME,
Wolkewitz M,
Schwab C,
Lorenzini T,
Leiding JW,
Aladjdi N,
Abolhassani H,
Abou-Chahla W,
Aiuti A,
Azarnoush S,
Baris S,
Barlogis V,
Barzaghi F,
Baumann U,
Bloomfield M,
Bohynikova N,
Bodet D,
Boutboul D,
Bucciol G,
Buckland MS,
Burns SO,
Cancrini C,
Cathébras P,
Cavazzana M,
Cheminant M,
Chinello M,
Ciznar P,
Coulter TI,
D'Aveni M,
Ekwall O,
Eric Z,
Eren E,
Fasth A,
Frange P,
Fournier B,
Garcia-Prat M,
Gardembas M,
Geier C,
Ghosh S,
Goda V,
Hammarström L,
Hauck F,
Heeg M,
Heropolitanska-Pliszka E,
Hilfanova A,
Jolles S,
Karakoc-Aydiner E,
Kindle GR,
Kiykim A,
Klemann C,
Koletsi P,
Koltan S,
Kondratenko I,
Körholz J,
Krüger R,
Jeziorski E,
Levy R,
Le Guenno G,
Lefevre G,
Lougaris V,
Marzollo A,
Mahlaoui N,
Malphettes M,
Meinhardt A,
Merlin E,
Meyts I,
Milota T,
Moreira F,
Moshous D,
Mukhina A,
Neth O,
Neubert J,
Neven B,
Nieters A,
Nove-Josserand R,
Oksenhendler E,
Ozen A,
Olbrich P,
Perlat A,
Pac M,
Schmid JP,
Pacillo L,
Parra-Martinez A,
Paschenko O,
Pellier I,
Sefer AP,
Plebani A,
Plantaz D,
Prader S,
Raffray L,
Ritterbusch H,
Riviere JG,
Rivalta B,
Rusch S,
Sakovich I,
Savic S,
Scheible R,
Schleinitz N,
Schuetz C,
Schulz A,
Sediva A,
Semeraro M,
Sharapova SO,
Shcherbina A,
Slatter MA,
Sogkas G,
Soler-Palacin P,
Speckmann C,
Stephan JL,
Suarez F,
Tommasini A,
Trück J,
Uhlmann A,
van Aerde KJ,
van Montfrans J,
von Bernuth H,
Warnatz K,
Williams T,
Worth AJJ,
Ip W,
Picard C,
Catherinot E,
Nademi Z,
Grimbacher B,
Forbes Satter LR,
Kracker S,
Chandra A,
Condliffe AM,
Ehl S;
European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol
2023 Oct;152(4):984-996.e10.
Epub 2023 Jun 28
doi: 10.1016/j.jaci.2023.06.015.
PMID: 37390899
Wang J,
Xiu J,
Farrell A,
Baca Y,
Arai H,
Battaglin F,
Kawanishi N,
Soni S,
Zhang W,
Millstein J,
Shields AF,
Grothey A,
Weinberg BA,
Marshall JL,
Lou E,
Khushman M,
Sohal DPS,
Hall MJ,
Liu T,
Oberley M,
Spetzler D,
Korn WM,
Shen L,
Lenz HJ
Lancet Oncol
2023 Feb;24(2):151-161.
Epub 2023 Jan 18
doi: 10.1016/S1470-2045(22)00783-5.
PMID: 36681091Free PMC Article
Lougaris V,
Cancrini C,
Rivalta B,
Castagnoli R,
Giardino G,
Volpi S,
Leonardi L,
La Torre F,
Federici S,
Corrente S,
Cinicola BL,
Soresina A,
Marseglia GL,
Cardinale F
Pediatr Allergy Immunol
2022 Jan;33 Suppl 27(Suppl 27):69-72.
doi: 10.1111/pai.13634.
PMID: 35080319Free PMC Article
Hu Y,
Chen C,
Tong X,
Chen S,
Hu X,
Pan B,
Sun X,
Chen Z,
Shi X,
Hu Y,
Shen X,
Xue X,
Lu M
Cell Death Dis
2021 Sep 9;12(9):842.
doi: 10.1038/s41419-021-04127-3.
PMID: 34504059Free PMC Article
López-Nevado M,
González-Granado LI,
Ruiz-García R,
Pleguezuelo D,
Cabrera-Marante O,
Salmón N,
Blanco-Lobo P,
Domínguez-Pinilla N,
Rodríguez-Pena R,
Sebastián E,
Cruz-Rojo J,
Olbrich P,
Ruiz-Contreras J,
Paz-Artal E,
Neth O,
Allende LM
Front Immunol
2021;12:671755.
Epub 2021 Aug 10
doi: 10.3389/fimmu.2021.671755.
PMID: 34447369Free PMC Article
Clinical prediction guides
Maccari ME,
Wolkewitz M,
Schwab C,
Lorenzini T,
Leiding JW,
Aladjdi N,
Abolhassani H,
Abou-Chahla W,
Aiuti A,
Azarnoush S,
Baris S,
Barlogis V,
Barzaghi F,
Baumann U,
Bloomfield M,
Bohynikova N,
Bodet D,
Boutboul D,
Bucciol G,
Buckland MS,
Burns SO,
Cancrini C,
Cathébras P,
Cavazzana M,
Cheminant M,
Chinello M,
Ciznar P,
Coulter TI,
D'Aveni M,
Ekwall O,
Eric Z,
Eren E,
Fasth A,
Frange P,
Fournier B,
Garcia-Prat M,
Gardembas M,
Geier C,
Ghosh S,
Goda V,
Hammarström L,
Hauck F,
Heeg M,
Heropolitanska-Pliszka E,
Hilfanova A,
Jolles S,
Karakoc-Aydiner E,
Kindle GR,
Kiykim A,
Klemann C,
Koletsi P,
Koltan S,
Kondratenko I,
Körholz J,
Krüger R,
Jeziorski E,
Levy R,
Le Guenno G,
Lefevre G,
Lougaris V,
Marzollo A,
Mahlaoui N,
Malphettes M,
Meinhardt A,
Merlin E,
Meyts I,
Milota T,
Moreira F,
Moshous D,
Mukhina A,
Neth O,
Neubert J,
Neven B,
Nieters A,
Nove-Josserand R,
Oksenhendler E,
Ozen A,
Olbrich P,
Perlat A,
Pac M,
Schmid JP,
Pacillo L,
Parra-Martinez A,
Paschenko O,
Pellier I,
Sefer AP,
Plebani A,
Plantaz D,
Prader S,
Raffray L,
Ritterbusch H,
Riviere JG,
Rivalta B,
Rusch S,
Sakovich I,
Savic S,
Scheible R,
Schleinitz N,
Schuetz C,
Schulz A,
Sediva A,
Semeraro M,
Sharapova SO,
Shcherbina A,
Slatter MA,
Sogkas G,
Soler-Palacin P,
Speckmann C,
Stephan JL,
Suarez F,
Tommasini A,
Trück J,
Uhlmann A,
van Aerde KJ,
van Montfrans J,
von Bernuth H,
Warnatz K,
Williams T,
Worth AJJ,
Ip W,
Picard C,
Catherinot E,
Nademi Z,
Grimbacher B,
Forbes Satter LR,
Kracker S,
Chandra A,
Condliffe AM,
Ehl S;
European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol
2023 Oct;152(4):984-996.e10.
Epub 2023 Jun 28
doi: 10.1016/j.jaci.2023.06.015.
PMID: 37390899
Nguyen T,
Lau A,
Bier J,
Cooke KC,
Lenthall H,
Ruiz-Diaz S,
Avery DT,
Brigden H,
Zahra D,
Sewell WA,
Droney L,
Okada S,
Asano T,
Abolhassani H,
Chavoshzadeh Z,
Abraham RS,
Rajapakse N,
Klee EW,
Church JA,
Williams A,
Wong M,
Burkhart C,
Uzel G,
Croucher DR,
James DE,
Ma CS,
Brink R,
Tangye SG,
Deenick EK
J Exp Med
2023 Jun 5;220(6)
Epub 2023 Mar 21
doi: 10.1084/jem.20221020.
PMID: 36943234Free PMC Article
Wang J,
Xiu J,
Farrell A,
Baca Y,
Arai H,
Battaglin F,
Kawanishi N,
Soni S,
Zhang W,
Millstein J,
Shields AF,
Grothey A,
Weinberg BA,
Marshall JL,
Lou E,
Khushman M,
Sohal DPS,
Hall MJ,
Liu T,
Oberley M,
Spetzler D,
Korn WM,
Shen L,
Lenz HJ
Lancet Oncol
2023 Feb;24(2):151-161.
Epub 2023 Jan 18
doi: 10.1016/S1470-2045(22)00783-5.
PMID: 36681091Free PMC Article
Hu Y,
Chen C,
Tong X,
Chen S,
Hu X,
Pan B,
Sun X,
Chen Z,
Shi X,
Hu Y,
Shen X,
Xue X,
Lu M
Cell Death Dis
2021 Sep 9;12(9):842.
doi: 10.1038/s41419-021-04127-3.
PMID: 34504059Free PMC Article
Cancer Genome Atlas Research Network
Nature
2008 Oct 23;455(7216):1061-8.
Epub 2008 Sep 4
doi: 10.1038/nature07385.
PMID: 18772890Free PMC Article