Etiology
Marakhonov AV,
Efimova IY,
Mukhina AA,
Zinchenko RA,
Balinova NV,
Rodina Y,
Pershin D,
Ryzhkova OP,
Orlova AA,
Zabnenkova VV,
Cherevatova TB,
Beskorovainaya TS,
Shchagina OA,
Polyakov AV,
Markova ZG,
Minzhenkova ME,
Shilova NV,
Larin SS,
Khadzhieva MB,
Dudina ES,
Kalinina EV,
Mudaeva DA,
Saydaeva DH,
Matulevich SA,
Belyashova EY,
Yakubovskiy GI,
Tebieva IS,
Gabisova YV,
Irinina NA,
Nurgalieva LR,
Saifullina EV,
Belyaeva TI,
Romanova OS,
Voronin SV,
Shcherbina A,
Kutsev SI
J Clin Immunol
2024 Apr 5;44(4):93.
doi: 10.1007/s10875-024-01691-z.
PMID: 38578360
Vittal A,
Abdul Majeed N,
Garabedian E,
Marko J,
Kleiner DE,
Sokolic R,
Candotti F,
Malech H,
Heller T,
Koh C
BMC Gastroenterol
2023 May 19;23(1):166.
doi: 10.1186/s12876-023-02782-8.
PMID: 37208598Free PMC Article
Fekrvand S,
Yazdani R,
Olbrich P,
Azizi G,
Shirzadi R,
Modaresi M,
Sohani M,
Delavari S,
Kalantari A,
Shariat M,
Shafiei A,
Lu N,
Hassanpour G,
Rahimi Hajiabadi M,
Ashournia P,
Razaghian A,
Asgharyan M,
Shahraki-Ghadimi Z,
Rouhani R,
Hoda Fallah F,
Rezaei N,
Abolhassani H,
Aghamohammadi A
Pediatr Allergy Immunol
2020 May;31(4):405-417.
Epub 2020 Mar 6
doi: 10.1111/pai.13228.
PMID: 32058651
Bousfiha AA,
Jeddane L,
El Hafidi N,
Benajiba N,
Rada N,
El Bakkouri J,
Kili A,
Benmiloud S,
Benhsaien I,
Faiz I,
Maataoui O,
Aadam Z,
Aglaguel A,
Baba LA,
Jouhadi Z,
Abilkassem R,
Bouskraoui M,
Hida M,
Najib J,
Alj HS,
Ailal F;
Moroccan Society for Primary Immunodeficiencies (MSPID)
J Clin Immunol
2014 May;34(4):459-68.
Epub 2014 Mar 12
doi: 10.1007/s10875-014-0005-8.
PMID: 24619622
Guerrini MM,
Sobacchi C,
Cassani B,
Abinun M,
Kilic SS,
Pangrazio A,
Moratto D,
Mazzolari E,
Clayton-Smith J,
Orchard P,
Coxon FP,
Helfrich MH,
Crockett JC,
Mellis D,
Vellodi A,
Tezcan I,
Notarangelo LD,
Rogers MJ,
Vezzoni P,
Villa A,
Frattini A
Am J Hum Genet
2008 Jul;83(1):64-76.
doi: 10.1016/j.ajhg.2008.06.015.
PMID: 18606301Free PMC Article
Diagnosis
Fekrvand S,
Yazdani R,
Olbrich P,
Azizi G,
Shirzadi R,
Modaresi M,
Sohani M,
Delavari S,
Kalantari A,
Shariat M,
Shafiei A,
Lu N,
Hassanpour G,
Rahimi Hajiabadi M,
Ashournia P,
Razaghian A,
Asgharyan M,
Shahraki-Ghadimi Z,
Rouhani R,
Hoda Fallah F,
Rezaei N,
Abolhassani H,
Aghamohammadi A
Pediatr Allergy Immunol
2020 May;31(4):405-417.
Epub 2020 Mar 6
doi: 10.1111/pai.13228.
PMID: 32058651
Gemayel KT,
Litman GW,
Sriaroon P
Ann Allergy Asthma Immunol
2016 Oct;117(4):439-441.
Epub 2016 Aug 27
doi: 10.1016/j.anai.2016.07.038.
PMID: 27576013
Lougaris V,
Vitali M,
Baronio M,
Moratto D,
Tampella G,
Biasini A,
Badolato R,
Plebani A
J Clin Immunol
2014 May;34(4):425-7.
Epub 2014 Apr 11
doi: 10.1007/s10875-014-0033-4.
PMID: 24722855
Guerrini MM,
Sobacchi C,
Cassani B,
Abinun M,
Kilic SS,
Pangrazio A,
Moratto D,
Mazzolari E,
Clayton-Smith J,
Orchard P,
Coxon FP,
Helfrich MH,
Crockett JC,
Mellis D,
Vellodi A,
Tezcan I,
Notarangelo LD,
Rogers MJ,
Vezzoni P,
Villa A,
Frattini A
Am J Hum Genet
2008 Jul;83(1):64-76.
doi: 10.1016/j.ajhg.2008.06.015.
PMID: 18606301Free PMC Article
Gripp KW,
Johnson C,
Scott CI Jr,
Nicholson L,
Bober M,
Butler MG,
Shaw L,
Gorlin RJ
Am J Med Genet A
2008 Feb 15;146A(4):468-73.
doi: 10.1002/ajmg.a.32155.
PMID: 18203204Free PMC Article
Therapy
Nihira H,
Izawa K,
Ito M,
Umebayashi H,
Okano T,
Kajikawa S,
Nanishi E,
Keino D,
Murakami K,
Isa-Nishitani M,
Shiba T,
Honda Y,
Hijikata A,
Yasu T,
Kubota T,
Hasegawa Y,
Kawashima Y,
Nakano N,
Takada H,
Ohga S,
Heike T,
Takita J,
Ohara O,
Takei S,
Takahashi M,
Kanegane H,
Morio T,
Iwaki-Egawa S,
Sasahara Y,
Nishikomori R,
Yasumi T
J Allergy Clin Immunol
2021 Aug;148(2):550-562.
Epub 2021 Jan 30
doi: 10.1016/j.jaci.2021.01.018.
PMID: 33529688
Cicalese MP,
Ferrua F,
Castagnaro L,
Pajno R,
Barzaghi F,
Giannelli S,
Dionisio F,
Brigida I,
Bonopane M,
Casiraghi M,
Tabucchi A,
Carlucci F,
Grunebaum E,
Adeli M,
Bredius RG,
Puck JM,
Stepensky P,
Tezcan I,
Rolfe K,
De Boever E,
Reinhardt RR,
Appleby J,
Ciceri F,
Roncarolo MG,
Aiuti A
Blood
2016 Jul 7;128(1):45-54.
Epub 2016 Apr 29
doi: 10.1182/blood-2016-01-688226.
PMID: 27129325Free PMC Article
Bousfiha AA,
Jeddane L,
El Hafidi N,
Benajiba N,
Rada N,
El Bakkouri J,
Kili A,
Benmiloud S,
Benhsaien I,
Faiz I,
Maataoui O,
Aadam Z,
Aglaguel A,
Baba LA,
Jouhadi Z,
Abilkassem R,
Bouskraoui M,
Hida M,
Najib J,
Alj HS,
Ailal F;
Moroccan Society for Primary Immunodeficiencies (MSPID)
J Clin Immunol
2014 May;34(4):459-68.
Epub 2014 Mar 12
doi: 10.1007/s10875-014-0005-8.
PMID: 24619622
Prognosis
Marakhonov AV,
Efimova IY,
Mukhina AA,
Zinchenko RA,
Balinova NV,
Rodina Y,
Pershin D,
Ryzhkova OP,
Orlova AA,
Zabnenkova VV,
Cherevatova TB,
Beskorovainaya TS,
Shchagina OA,
Polyakov AV,
Markova ZG,
Minzhenkova ME,
Shilova NV,
Larin SS,
Khadzhieva MB,
Dudina ES,
Kalinina EV,
Mudaeva DA,
Saydaeva DH,
Matulevich SA,
Belyashova EY,
Yakubovskiy GI,
Tebieva IS,
Gabisova YV,
Irinina NA,
Nurgalieva LR,
Saifullina EV,
Belyaeva TI,
Romanova OS,
Voronin SV,
Shcherbina A,
Kutsev SI
J Clin Immunol
2024 Apr 5;44(4):93.
doi: 10.1007/s10875-024-01691-z.
PMID: 38578360
Xue Y,
Zhao Y,
Wu B,
Shu J,
Yan D,
Li D,
Yu X,
Cai C
Mol Genet Genomic Med
2023 Aug;11(8):e2197.
Epub 2023 May 19
doi: 10.1002/mgg3.2197.
PMID: 37204045Free PMC Article
Meshaal S,
El Hawary R,
Adel R,
Abd Elaziz D,
Erfan A,
Lotfy S,
Hafez M,
Hassan M,
Johnson M,
Rojas-Restrepo J,
Gamez-Diaz L,
Grimbacher B,
Shoman W,
Abdelmeguid Y,
Boutros J,
Galal N,
El-Guindy N,
Elmarsafy A
J Clin Immunol
2020 Aug;40(6):820-832.
Epub 2020 Jun 6
doi: 10.1007/s10875-020-00799-2.
PMID: 32506362
Fekrvand S,
Yazdani R,
Olbrich P,
Azizi G,
Shirzadi R,
Modaresi M,
Sohani M,
Delavari S,
Kalantari A,
Shariat M,
Shafiei A,
Lu N,
Hassanpour G,
Rahimi Hajiabadi M,
Ashournia P,
Razaghian A,
Asgharyan M,
Shahraki-Ghadimi Z,
Rouhani R,
Hoda Fallah F,
Rezaei N,
Abolhassani H,
Aghamohammadi A
Pediatr Allergy Immunol
2020 May;31(4):405-417.
Epub 2020 Mar 6
doi: 10.1111/pai.13228.
PMID: 32058651
Cicalese MP,
Ferrua F,
Castagnaro L,
Pajno R,
Barzaghi F,
Giannelli S,
Dionisio F,
Brigida I,
Bonopane M,
Casiraghi M,
Tabucchi A,
Carlucci F,
Grunebaum E,
Adeli M,
Bredius RG,
Puck JM,
Stepensky P,
Tezcan I,
Rolfe K,
De Boever E,
Reinhardt RR,
Appleby J,
Ciceri F,
Roncarolo MG,
Aiuti A
Blood
2016 Jul 7;128(1):45-54.
Epub 2016 Apr 29
doi: 10.1182/blood-2016-01-688226.
PMID: 27129325Free PMC Article
Clinical prediction guides
Tekcan D,
Kulhas Celik I,
Comert M,
Artac H
Pediatr Allergy Immunol Pulmonol
2024 Dec;37(4):112-115.
Epub 2024 Nov 28
doi: 10.1089/ped.2024.0071.
PMID: 39607724
Vittal A,
Abdul Majeed N,
Garabedian E,
Marko J,
Kleiner DE,
Sokolic R,
Candotti F,
Malech H,
Heller T,
Koh C
BMC Gastroenterol
2023 May 19;23(1):166.
doi: 10.1186/s12876-023-02782-8.
PMID: 37208598Free PMC Article
Fekrvand S,
Yazdani R,
Olbrich P,
Azizi G,
Shirzadi R,
Modaresi M,
Sohani M,
Delavari S,
Kalantari A,
Shariat M,
Shafiei A,
Lu N,
Hassanpour G,
Rahimi Hajiabadi M,
Ashournia P,
Razaghian A,
Asgharyan M,
Shahraki-Ghadimi Z,
Rouhani R,
Hoda Fallah F,
Rezaei N,
Abolhassani H,
Aghamohammadi A
Pediatr Allergy Immunol
2020 May;31(4):405-417.
Epub 2020 Mar 6
doi: 10.1111/pai.13228.
PMID: 32058651
Cagdas D,
Gur Cetinkaya P,
Karaatmaca B,
Esenboga S,
Tan C,
Yılmaz T,
Gümüş E,
Barış S,
Kuşkonmaz B,
Ozgur TT,
Bali P,
Santisteban I,
Orhan D,
Yüce A,
Cetinkaya D,
Boztug K,
Hershfield M,
Sanal O,
Tezcan İ
J Clin Immunol
2018 May;38(4):484-493.
Epub 2018 May 9
doi: 10.1007/s10875-018-0496-9.
PMID: 29744787
Morell A,
Skvaril F,
Ràdl J,
Dooren LJ,
Barandun S
Birth Defects Orig Artic Ser
1975;11(1):108-11.
PMID: 807269