Etiology
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
Vakkilainen S,
Taskinen M,
Mäkitie O
Scand J Immunol
2020 Oct;92(4):e12913.
Epub 2020 Jun 22
doi: 10.1111/sji.12913.
PMID: 32506568
Iqbal MA,
Hong K,
Kim JH,
Choi Y
BMB Rep
2019 Nov;52(11):625-634.
doi: 10.5483/BMBRep.2019.52.11.267.
PMID: 31722780Free PMC Article
Chrzanowska KH,
Gregorek H,
Dembowska-Bagińska B,
Kalina MA,
Digweed M
Orphanet J Rare Dis
2012 Feb 28;7:13.
doi: 10.1186/1750-1172-7-13.
PMID: 22373003Free PMC Article
Magnuson NS,
Perryman LE
Comp Biochem Physiol B
1986;83(4):701-10.
doi: 10.1016/0305-0491(86)90134-3.
PMID: 3519064
Diagnosis
Riestra MR,
Pillay BA,
Willemsen M,
Kienapfel V,
Ehlers L,
Delafontaine S,
Pinton A,
Wouters M,
Hombrouck A,
Sauer K,
Bossuyt X,
Voet A,
Soenen SJ,
Conde CD,
Bucciol G,
Boztug K,
Humblet-Baron S,
Touzart A,
Rieux-Laucat F,
Notarangelo LD,
Moens L,
Meyts I
J Clin Immunol
2023 Dec 15;44(1):2.
doi: 10.1007/s10875-023-01627-z.
PMID: 38099988
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
Seth N,
Tuano KS,
Chinen J
J Allergy Clin Immunol
2021 Dec;148(6):1442-1450.
Epub 2021 Oct 21
doi: 10.1016/j.jaci.2021.10.010.
PMID: 34688776
Chrzanowska KH,
Gregorek H,
Dembowska-Bagińska B,
Kalina MA,
Digweed M
Orphanet J Rare Dis
2012 Feb 28;7:13.
doi: 10.1186/1750-1172-7-13.
PMID: 22373003Free PMC Article
Notarangelo LD,
Duse M,
Ugazio AG
Immunodefic Rev
1992;3(2):101-21.
PMID: 1554497
Therapy
Pastorczak A,
Szczepanski T,
Mlynarski W;
International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group
Eur J Med Genet
2016 Mar;59(3):126-32.
Epub 2016 Jan 27
doi: 10.1016/j.ejmg.2016.01.007.
PMID: 26826318
Chinen J,
Shearer WT
J Allergy Clin Immunol
2010 Mar;125(3):563-8.
doi: 10.1016/j.jaci.2010.01.022.
PMID: 20226292Free PMC Article
Pesu M,
Candotti F,
Husa M,
Hofmann SR,
Notarangelo LD,
O'Shea JJ
Immunol Rev
2005 Feb;203:127-42.
doi: 10.1111/j.0105-2896.2005.00220.x.
PMID: 15661026
Notarangelo LD,
Duse M,
Ugazio AG
Immunodefic Rev
1992;3(2):101-21.
PMID: 1554497
Campbell TM,
Studdert MJ
Comp Immunol Microbiol Infect Dis
1983;6(2):101-14.
doi: 10.1016/0147-9571(83)90002-4.
PMID: 6189668
Prognosis
Vakkilainen S,
Taskinen M,
Mäkitie O
Scand J Immunol
2020 Oct;92(4):e12913.
Epub 2020 Jun 22
doi: 10.1111/sji.12913.
PMID: 32506568
Firtina S,
Yin Ng Y,
Hatirnaz Ng O,
Kiykim A,
Aydiner E,
Nepesov S,
Camcioglu Y,
Sayar EH,
Reisli I,
Torun SH,
Cogurlu T,
Uygun D,
Simsek IE,
Kaya A,
Cipe F,
Cagdas D,
Yucel E,
Cekic S,
Uygun V,
Baris S,
Ozen A,
Ozbek U,
Sayitoglu M
Int J Immunogenet
2020 Dec;47(6):529-538.
Epub 2020 May 22
doi: 10.1111/iji.12496.
PMID: 32445296
Pastorczak A,
Szczepanski T,
Mlynarski W;
International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group
Eur J Med Genet
2016 Mar;59(3):126-32.
Epub 2016 Jan 27
doi: 10.1016/j.ejmg.2016.01.007.
PMID: 26826318
Chrzanowska KH,
Gregorek H,
Dembowska-Bagińska B,
Kalina MA,
Digweed M
Orphanet J Rare Dis
2012 Feb 28;7:13.
doi: 10.1186/1750-1172-7-13.
PMID: 22373003Free PMC Article
Notarangelo LD,
Duse M,
Ugazio AG
Immunodefic Rev
1992;3(2):101-21.
PMID: 1554497
Clinical prediction guides
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
Benhsaien I,
Ailal F,
El Bakkouri J,
Jeddane L,
Ouair H,
Admou B,
Bouskraoui M,
Hbibi M,
Hida M,
Amenzoui N,
Jouhadi Z,
El Hafidi N,
Rada N,
Benajiba N,
Abilkassem R,
Badou A,
Bousfiha AA
J Clin Immunol
2021 Apr;41(3):631-638.
Epub 2021 Jan 7
doi: 10.1007/s10875-020-00960-x.
PMID: 33411152
Giżewska M,
Durda K,
Winter T,
Ostrowska I,
Ołtarzewski M,
Klein J,
Blankenstein O,
Romanowska H,
Krzywińska-Zdeb E,
Patalan MF,
Bartkowiak E,
Szczerba N,
Seiberling S,
Birkenfeld B,
Nauck M,
von Bernuth H,
Meisel C,
Bernatowska EA,
Walczak M,
Pac M
Front Immunol
2020;11:1948.
Epub 2020 Oct 16
doi: 10.3389/fimmu.2020.01948.
PMID: 33178177Free PMC Article
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
Ghoreschi K,
Laurence A,
O'Shea JJ
Immunol Rev
2009 Mar;228(1):273-87.
doi: 10.1111/j.1600-065X.2008.00754.x.
PMID: 19290934Free PMC Article