Etiology
Gupta S,
Dutta A,
Chakraborty U,
Kumar R,
Das D,
Ray BK
QJM
2022 Apr 20;115(4):222-227.
doi: 10.1093/qjmed/hcac060.
PMID: 35199176Free PMC Article
Lim HK,
Seppänen M,
Hautala T,
Ciancanelli MJ,
Itan Y,
Lafaille FG,
Dell W,
Lorenzo L,
Byun M,
Pauwels E,
Rönnelid Y,
Cai X,
Boucherit S,
Jouanguy E,
Paetau A,
Lebon P,
Rozenberg F,
Tardieu M,
Abel L,
Yildiran A,
Vergison A,
Roivainen R,
Etzioni A,
Tienari PJ,
Casanova JL,
Zhang SY
Neurology
2014 Nov 18;83(21):1888-97.
Epub 2014 Oct 22
doi: 10.1212/WNL.0000000000000999.
PMID: 25339207Free PMC Article
Zhang SY,
Abel L,
Casanova JL
Handb Clin Neurol
2013;112:1091-7.
doi: 10.1016/B978-0-444-52910-7.00027-1.
PMID: 23622315
Carter CJ
Neurochem Int
2011 Feb;58(3):301-20.
Epub 2010 Dec 15
doi: 10.1016/j.neuint.2010.12.003.
PMID: 21167244
Kallio-Laine K,
Seppänen M,
Aittoniemi J,
Kautiainen H,
Seppälä I,
Valtonen V,
Färkkilä M,
Kalso E,
Lokki ML
Hum Immunol
2010 Feb;71(2):179-81.
Epub 2009 Oct 30
doi: 10.1016/j.humimm.2009.10.014.
PMID: 19879913
Diagnosis
Gupta S,
Dutta A,
Chakraborty U,
Kumar R,
Das D,
Ray BK
QJM
2022 Apr 20;115(4):222-227.
doi: 10.1093/qjmed/hcac060.
PMID: 35199176Free PMC Article
Kuo CY,
Ku CL,
Lim HK,
Hsia SH,
Lin JJ,
Lo CC,
Ding JY,
Kuo RL,
Casanova JL,
Zhang SY,
Chang LY,
Lin TY
J Clin Immunol
2022 Apr;42(3):606-617.
Epub 2022 Jan 18
doi: 10.1007/s10875-021-01170-9.
PMID: 35040013
Venkatesan A
Curr Opin Infect Dis
2019 Jun;32(3):251-258.
doi: 10.1097/QCO.0000000000000546.
PMID: 31021956
Lim HK,
Seppänen M,
Hautala T,
Ciancanelli MJ,
Itan Y,
Lafaille FG,
Dell W,
Lorenzo L,
Byun M,
Pauwels E,
Rönnelid Y,
Cai X,
Boucherit S,
Jouanguy E,
Paetau A,
Lebon P,
Rozenberg F,
Tardieu M,
Abel L,
Yildiran A,
Vergison A,
Roivainen R,
Etzioni A,
Tienari PJ,
Casanova JL,
Zhang SY
Neurology
2014 Nov 18;83(21):1888-97.
Epub 2014 Oct 22
doi: 10.1212/WNL.0000000000000999.
PMID: 25339207Free PMC Article
Sancho-Shimizu V,
Zhang SY,
Abel L,
Tardieu M,
Rozenberg F,
Jouanguy E,
Casanova JL
Curr Opin Allergy Clin Immunol
2007 Dec;7(6):495-505.
doi: 10.1097/ACI.0b013e3282f151d2.
PMID: 17989525
Therapy
Gupta S,
Dutta A,
Chakraborty U,
Kumar R,
Das D,
Ray BK
QJM
2022 Apr 20;115(4):222-227.
doi: 10.1093/qjmed/hcac060.
PMID: 35199176Free PMC Article
Venkatesan A
Curr Opin Infect Dis
2019 Jun;32(3):251-258.
doi: 10.1097/QCO.0000000000000546.
PMID: 31021956
Ramakrishna C,
Newo AN,
Shen YW,
Cantin E
PLoS Pathog
2011 Jun;7(6):e1002071.
Epub 2011 Jun 2
doi: 10.1371/journal.ppat.1002071.
PMID: 21655109Free PMC Article
Abel L,
Plancoulaine S,
Jouanguy E,
Zhang SY,
Mahfoufi N,
Nicolas N,
Sancho-Shimizu V,
Alcaïs A,
Guo Y,
Cardon A,
Boucherit S,
Obach D,
Clozel T,
Lorenzo L,
Amsallem D,
Berquin P,
Blanc T,
Bost-Bru C,
Chabrier S,
Chabrol B,
Cheuret E,
Dulac O,
Evrard P,
Héron B,
Lazaro L,
Mancini J,
Pedespan JM,
Rivier F,
Vallée L,
Lebon P,
Rozenberg F,
Casanova JL,
Tardieu M
J Pediatr
2010 Oct;157(4):623-9, 629.e1.
Epub 2010 May 31
doi: 10.1016/j.jpeds.2010.04.020.
PMID: 20553844
Chilukuri S,
Rosen T
Dermatol Clin
2003 Apr;21(2):311-20.
doi: 10.1016/s0733-8635(02)00093-1.
PMID: 12757254
Prognosis
Rathore SK,
Pati P,
Priyadarshini S,
Dwibedi B
Nitric Oxide
2021 Mar 1;108:8-11.
Epub 2020 Dec 19
doi: 10.1016/j.niox.2020.12.007.
PMID: 33347982
Lim HK,
Huang SXL,
Chen J,
Kerner G,
Gilliaux O,
Bastard P,
Dobbs K,
Hernandez N,
Goudin N,
Hasek ML,
García Reino EJ,
Lafaille FG,
Lorenzo L,
Luthra P,
Kochetkov T,
Bigio B,
Boucherit S,
Rozenberg F,
Vedrinne C,
Keller MD,
Itan Y,
García-Sastre A,
Celard M,
Orange JS,
Ciancanelli MJ,
Meyts I,
Zhang Q,
Abel L,
Notarangelo LD,
Snoeck HW,
Casanova JL,
Zhang SY
J Exp Med
2019 Sep 2;216(9):2038-2056.
Epub 2019 Jun 19
doi: 10.1084/jem.20181621.
PMID: 31217193Free PMC Article
Sarquiz-Martínez B,
González-Bonilla CR,
Santacruz-Tinoco CE,
Muñoz-Medina JE,
Pardavé-Alejandre HD,
Barbosa-Cabrera E,
Ramírez-González JE,
Díaz-Quiñonez JA
Intervirology
2017;60(3):118-124.
Epub 2017 Sep 28
doi: 10.1159/000480508.
PMID: 28954265
Zhang SY,
Abel L,
Casanova JL
Handb Clin Neurol
2013;112:1091-7.
doi: 10.1016/B978-0-444-52910-7.00027-1.
PMID: 23622315
Marttila RJ,
Rinne UK
J Neural Transm
1981;51(1-2):135-48.
doi: 10.1007/BF01664011.
PMID: 7264626
Clinical prediction guides
Bibert S,
Quinodoz M,
Perriot S,
Krebs FS,
Jan M,
Malta RC,
Collinet E,
Canales M,
Mathias A,
Faignart N,
Roulet-Perez E,
Meylan P,
Brouillet R,
Opota O,
Lozano-Calderon L,
Fellmann F,
Guex N,
Zoete V,
Asner S,
Rivolta C,
Du Pasquier R,
Bochud PY
Nat Commun
2024 May 10;15(1):3969.
doi: 10.1038/s41467-024-48287-0.
PMID: 38730242Free PMC Article
Gupta S,
Dutta A,
Chakraborty U,
Kumar R,
Das D,
Ray BK
QJM
2022 Apr 20;115(4):222-227.
doi: 10.1093/qjmed/hcac060.
PMID: 35199176Free PMC Article
Ritchie L,
Tate R,
Chamberlain LH,
Robertson G,
Zagnoni M,
Sposito T,
Wray S,
Wright JA,
Bryant CE,
Gay NJ,
Bushell TJ
Neuropharmacology
2018 Jun;135:1-10.
Epub 2018 Mar 2
doi: 10.1016/j.neuropharm.2018.02.025.
PMID: 29505789Free PMC Article
Chono K,
Katsumata K,
Suzuki H,
Shiraki K
Antiviral Res
2013 Feb;97(2):154-60.
Epub 2012 Dec 20
doi: 10.1016/j.antiviral.2012.12.006.
PMID: 23261844
Sancho-Shimizu V,
Pérez de Diego R,
Lorenzo L,
Halwani R,
Alangari A,
Israelsson E,
Fabrega S,
Cardon A,
Maluenda J,
Tatematsu M,
Mahvelati F,
Herman M,
Ciancanelli M,
Guo Y,
AlSum Z,
Alkhamis N,
Al-Makadma AS,
Ghadiri A,
Boucherit S,
Plancoulaine S,
Picard C,
Rozenberg F,
Tardieu M,
Lebon P,
Jouanguy E,
Rezaei N,
Seya T,
Matsumoto M,
Chaussabel D,
Puel A,
Zhang SY,
Abel L,
Al-Muhsen S,
Casanova JL
J Clin Invest
2011 Dec;121(12):4889-902.
Epub 2011 Nov 21
doi: 10.1172/JCI59259.
PMID: 22105173Free PMC Article