Etiology
Vallée TC,
Glasmacher JS,
Buchner H,
Arkwright PD,
Behrends U,
Bondarenko A,
Browning MJ,
Buchbinder D,
Cattoni A,
Chernyshova L,
Ciznar P,
Cole T,
Czogała W,
Dueckers G,
Edgar JDM,
Erbey F,
Fasth A,
Ferrua F,
Formankova R,
Gambineri E,
Gennery AR,
Goldman FD,
Gonzalez-Granado LI,
Heilmann C,
Heiskanen-Kosma T,
Juntti H,
Kainulainen L,
Kanegane H,
Karaca NE,
Kilic SS,
Klein C,
Kołtan S,
Kondratenko I,
Meyts I,
Nasrullayeva GM,
Notarangelo LD,
Pasic S,
Pellier I,
Pignata C,
Misbah S,
Schulz A,
Segundo GR,
Shcherbina A,
Slatter M,
Sokolic R,
Soler-Palacin P,
Stepensky P,
van Montfrans JM,
Ryhänen S,
Wolska-Kuśnierz B,
Ziegler JB,
Zhao X,
Aiuti A,
Ochs HD,
Albert MH
Blood
2024 Jun 13;143(24):2504-2516.
doi: 10.1182/blood.2023021411.
PMID: 38579284
Scala S,
Ferrua F,
Basso-Ricci L,
Dionisio F,
Omrani M,
Quaranta P,
Jofra Hernandez R,
Del Core L,
Benedicenti F,
Monti I,
Giannelli S,
Fraschetta F,
Darin S,
Albertazzi E,
Galimberti S,
Montini E,
Calabria A,
Cicalese MP,
Aiuti A
Nat Commun
2023 May 27;14(1):3068.
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Albert MH,
Slatter MA,
Gennery AR,
Güngör T,
Bakunina K,
Markovitch B,
Hazelaar S,
Sirait T,
Courteille V,
Aiuti A,
Aleinikova OV,
Balashov D,
Bernardo ME,
Bodova I,
Bruno B,
Cavazzana M,
Chiesa R,
Fischer A,
Hauck F,
Ifversen M,
Kałwak K,
Klein C,
Kulagin A,
Kupesiz A,
Kuskonmaz B,
Lindemans CA,
Locatelli F,
Lum SH,
Maschan A,
Meisel R,
Moshous D,
Porta F,
Sauer MG,
Sedlacek P,
Schulz A,
Suarez F,
Vallée TC,
Winiarski JH,
Zecca M,
Neven B,
Veys P,
Lankester AC
Blood
2022 Mar 31;139(13):2066-2079.
doi: 10.1182/blood.2021014687.
PMID: 35100336
Griffith LM,
Cowan MJ,
Notarangelo LD,
Kohn DB,
Puck JM,
Shearer WT,
Burroughs LM,
Torgerson TR,
Decaluwe H,
Haddad E;
workshop participants
J Allergy Clin Immunol
2016 Aug;138(2):375-85.
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Small GTPases
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Diagnosis
Vallée TC,
Glasmacher JS,
Buchner H,
Arkwright PD,
Behrends U,
Bondarenko A,
Browning MJ,
Buchbinder D,
Cattoni A,
Chernyshova L,
Ciznar P,
Cole T,
Czogała W,
Dueckers G,
Edgar JDM,
Erbey F,
Fasth A,
Ferrua F,
Formankova R,
Gambineri E,
Gennery AR,
Goldman FD,
Gonzalez-Granado LI,
Heilmann C,
Heiskanen-Kosma T,
Juntti H,
Kainulainen L,
Kanegane H,
Karaca NE,
Kilic SS,
Klein C,
Kołtan S,
Kondratenko I,
Meyts I,
Nasrullayeva GM,
Notarangelo LD,
Pasic S,
Pellier I,
Pignata C,
Misbah S,
Schulz A,
Segundo GR,
Shcherbina A,
Slatter M,
Sokolic R,
Soler-Palacin P,
Stepensky P,
van Montfrans JM,
Ryhänen S,
Wolska-Kuśnierz B,
Ziegler JB,
Zhao X,
Aiuti A,
Ochs HD,
Albert MH
Blood
2024 Jun 13;143(24):2504-2516.
doi: 10.1182/blood.2023021411.
PMID: 38579284
Mughees M,
Bano F,
Wajid S
Protoplasma
2021 Jul;258(4):683-693.
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Slatter MA,
Gennery AR
Expert Rev Clin Immunol
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Griffith LM,
Cowan MJ,
Notarangelo LD,
Kohn DB,
Puck JM,
Shearer WT,
Burroughs LM,
Torgerson TR,
Decaluwe H,
Haddad E;
workshop participants
J Allergy Clin Immunol
2016 Aug;138(2):375-85.
Epub 2016 Apr 22
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Klein C
Hematology Am Soc Hematol Educ Program
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Therapy
Labrosse R,
Chu JI,
Armant MA,
Everett JK,
Pellin D,
Kareddy N,
Frelinger AL,
Henderson LA,
O'Connell AE,
Biswas A,
Coenen-van der Spek J,
Miggelbrink A,
Fiorini C,
Adhikari H,
Berry CC,
Cantu VA,
Fong J,
Jaroslavsky J,
Karadeniz DF,
Li QZ,
Reddy S,
Roche AM,
Zhu C,
Whangbo JS,
Dansereau C,
Mackinnon B,
Morris E,
Koo SM,
London WB,
Baris S,
Ozen A,
Karakoc-Aydiner E,
Despotovic JM,
Forbes Satter LR,
Saitoh A,
Aizawa Y,
King A,
Nguyen MAT,
Vu VDU,
Snapper SB,
Galy A,
Notarangelo LD,
Bushman FD,
Williams DA,
Pai SY
Blood
2023 Oct 12;142(15):1281-1296.
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PMID: 37478401Free PMC Article
Albert MH,
Slatter MA,
Gennery AR,
Güngör T,
Bakunina K,
Markovitch B,
Hazelaar S,
Sirait T,
Courteille V,
Aiuti A,
Aleinikova OV,
Balashov D,
Bernardo ME,
Bodova I,
Bruno B,
Cavazzana M,
Chiesa R,
Fischer A,
Hauck F,
Ifversen M,
Kałwak K,
Klein C,
Kulagin A,
Kupesiz A,
Kuskonmaz B,
Lindemans CA,
Locatelli F,
Lum SH,
Maschan A,
Meisel R,
Moshous D,
Porta F,
Sauer MG,
Sedlacek P,
Schulz A,
Suarez F,
Vallée TC,
Winiarski JH,
Zecca M,
Neven B,
Veys P,
Lankester AC
Blood
2022 Mar 31;139(13):2066-2079.
doi: 10.1182/blood.2021014687.
PMID: 35100336
Fischer A,
Hacein-Bey-Abina S
J Exp Med
2020 Jan 6;217(2)
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PMID: 31826240Free PMC Article
Griffith LM,
Cowan MJ,
Notarangelo LD,
Kohn DB,
Puck JM,
Shearer WT,
Burroughs LM,
Torgerson TR,
Decaluwe H,
Haddad E;
workshop participants
J Allergy Clin Immunol
2016 Aug;138(2):375-85.
Epub 2016 Apr 22
doi: 10.1016/j.jaci.2016.01.051.
PMID: 27262745Free PMC Article
Klein C
Hematology Am Soc Hematol Educ Program
2009:344-50.
doi: 10.1182/asheducation-2009.1.344.
PMID: 20008220
Prognosis
Vallée TC,
Glasmacher JS,
Buchner H,
Arkwright PD,
Behrends U,
Bondarenko A,
Browning MJ,
Buchbinder D,
Cattoni A,
Chernyshova L,
Ciznar P,
Cole T,
Czogała W,
Dueckers G,
Edgar JDM,
Erbey F,
Fasth A,
Ferrua F,
Formankova R,
Gambineri E,
Gennery AR,
Goldman FD,
Gonzalez-Granado LI,
Heilmann C,
Heiskanen-Kosma T,
Juntti H,
Kainulainen L,
Kanegane H,
Karaca NE,
Kilic SS,
Klein C,
Kołtan S,
Kondratenko I,
Meyts I,
Nasrullayeva GM,
Notarangelo LD,
Pasic S,
Pellier I,
Pignata C,
Misbah S,
Schulz A,
Segundo GR,
Shcherbina A,
Slatter M,
Sokolic R,
Soler-Palacin P,
Stepensky P,
van Montfrans JM,
Ryhänen S,
Wolska-Kuśnierz B,
Ziegler JB,
Zhao X,
Aiuti A,
Ochs HD,
Albert MH
Blood
2024 Jun 13;143(24):2504-2516.
doi: 10.1182/blood.2023021411.
PMID: 38579284
Shao X,
Dang Y,
Zhang T,
Bai N,
Huang J,
Guo M,
Sun L,
Li M,
Sun X,
Zhang X,
Han F,
Zhang N,
Zhuang H,
Li Y
Mol Cancer Res
2024 Mar 1;22(3):282-294.
doi: 10.1158/1541-7786.MCR-23-0414.
PMID: 37934195
Ahn HR,
Baek GO,
Yoon MG,
Son JA,
Yoon JH,
Cheong JY,
Cho HJ,
Kang HC,
Eun JW,
Kim SS
J Exp Clin Cancer Res
2022 Apr 28;41(1):158.
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PMID: 35477411Free PMC Article
Albert MH,
Slatter MA,
Gennery AR,
Güngör T,
Bakunina K,
Markovitch B,
Hazelaar S,
Sirait T,
Courteille V,
Aiuti A,
Aleinikova OV,
Balashov D,
Bernardo ME,
Bodova I,
Bruno B,
Cavazzana M,
Chiesa R,
Fischer A,
Hauck F,
Ifversen M,
Kałwak K,
Klein C,
Kulagin A,
Kupesiz A,
Kuskonmaz B,
Lindemans CA,
Locatelli F,
Lum SH,
Maschan A,
Meisel R,
Moshous D,
Porta F,
Sauer MG,
Sedlacek P,
Schulz A,
Suarez F,
Vallée TC,
Winiarski JH,
Zecca M,
Neven B,
Veys P,
Lankester AC
Blood
2022 Mar 31;139(13):2066-2079.
doi: 10.1182/blood.2021014687.
PMID: 35100336
Caron E,
Crepin VF,
Simpson N,
Knutton S,
Garmendia J,
Frankel G
Curr Opin Microbiol
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Clinical prediction guides
Vallée TC,
Glasmacher JS,
Buchner H,
Arkwright PD,
Behrends U,
Bondarenko A,
Browning MJ,
Buchbinder D,
Cattoni A,
Chernyshova L,
Ciznar P,
Cole T,
Czogała W,
Dueckers G,
Edgar JDM,
Erbey F,
Fasth A,
Ferrua F,
Formankova R,
Gambineri E,
Gennery AR,
Goldman FD,
Gonzalez-Granado LI,
Heilmann C,
Heiskanen-Kosma T,
Juntti H,
Kainulainen L,
Kanegane H,
Karaca NE,
Kilic SS,
Klein C,
Kołtan S,
Kondratenko I,
Meyts I,
Nasrullayeva GM,
Notarangelo LD,
Pasic S,
Pellier I,
Pignata C,
Misbah S,
Schulz A,
Segundo GR,
Shcherbina A,
Slatter M,
Sokolic R,
Soler-Palacin P,
Stepensky P,
van Montfrans JM,
Ryhänen S,
Wolska-Kuśnierz B,
Ziegler JB,
Zhao X,
Aiuti A,
Ochs HD,
Albert MH
Blood
2024 Jun 13;143(24):2504-2516.
doi: 10.1182/blood.2023021411.
PMID: 38579284
Albert MH,
Slatter MA,
Gennery AR,
Güngör T,
Bakunina K,
Markovitch B,
Hazelaar S,
Sirait T,
Courteille V,
Aiuti A,
Aleinikova OV,
Balashov D,
Bernardo ME,
Bodova I,
Bruno B,
Cavazzana M,
Chiesa R,
Fischer A,
Hauck F,
Ifversen M,
Kałwak K,
Klein C,
Kulagin A,
Kupesiz A,
Kuskonmaz B,
Lindemans CA,
Locatelli F,
Lum SH,
Maschan A,
Meisel R,
Moshous D,
Porta F,
Sauer MG,
Sedlacek P,
Schulz A,
Suarez F,
Vallée TC,
Winiarski JH,
Zecca M,
Neven B,
Veys P,
Lankester AC
Blood
2022 Mar 31;139(13):2066-2079.
doi: 10.1182/blood.2021014687.
PMID: 35100336
Fischer A,
Hacein-Bey-Abina S
J Exp Med
2020 Jan 6;217(2)
doi: 10.1084/jem.20190607.
PMID: 31826240Free PMC Article
Ochs HD,
Oukka M,
Torgerson TR
J Allergy Clin Immunol
2009 May;123(5):977-83; quiz 984-5.
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Shannon KM,
Ammann AJ
J Pediatr
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PMID: 2982008