Etiology
Gutierrez-Rodrigues F,
Kusne Y,
Fernandez J,
Lasho T,
Shalhoub R,
Ma X,
Alessi H,
Finke C,
Koster MJ,
Mangaonkar A,
Warrington KJ,
Begna K,
Xie Z,
Ombrello AK,
Viswanatha D,
Ferrada M,
Wilson L,
Go R,
Kourelis T,
Reichard K,
Olteanu H,
Darden I,
Hironaka D,
Alemu L,
Kajigaya S,
Rosenzweig S,
Calado RT,
Groarke EM,
Kastner DL,
Calvo KR,
Wu CO,
Grayson PC,
Young NS,
Beck DB,
Patel BA,
Patnaik MM
Blood
2023 Jul 20;142(3):244-259.
doi: 10.1182/blood.2022018774.
PMID: 37084382Free PMC Article
Beck DB,
Bodian DL,
Shah V,
Mirshahi UL,
Kim J,
Ding Y,
Magaziner SJ,
Strande NT,
Cantor A,
Haley JS,
Cook A,
Hill W,
Schwartz AL,
Grayson PC,
Ferrada MA,
Kastner DL,
Carey DJ,
Stewart DR
JAMA
2023 Jan 24;329(4):318-324.
doi: 10.1001/jama.2022.24836.
PMID: 36692560Free PMC Article
Iolascon A,
Andolfo I,
Russo R
Blood
2020 Sep 10;136(11):1274-1283.
doi: 10.1182/blood.2019000948.
PMID: 32702750
Rivers E,
Worth A,
Thrasher AJ,
Burns SO
Br J Haematol
2019 May;185(4):647-655.
Epub 2019 Mar 12
doi: 10.1111/bjh.15831.
PMID: 30864154Free PMC Article
Galanello R,
Origa R
Orphanet J Rare Dis
2010 May 21;5:11.
doi: 10.1186/1750-1172-5-11.
PMID: 20492708Free PMC Article
Diagnosis
Khitri MY,
Hadjadj J,
Mekinian A,
Jachiet V
Joint Bone Spine
2024 Jul;91(4):105700.
Epub 2024 Feb 1
doi: 10.1016/j.jbspin.2024.105700.
PMID: 38307404
Iolascon A,
Andolfo I,
Russo R
Blood
2020 Sep 10;136(11):1274-1283.
doi: 10.1182/blood.2019000948.
PMID: 32702750
Rivers E,
Worth A,
Thrasher AJ,
Burns SO
Br J Haematol
2019 May;185(4):647-655.
Epub 2019 Mar 12
doi: 10.1111/bjh.15831.
PMID: 30864154Free PMC Article
Massaad MJ,
Ramesh N,
Geha RS
Ann N Y Acad Sci
2013 May;1285:26-43.
Epub 2013 Mar 25
doi: 10.1111/nyas.12049.
PMID: 23527602
Galanello R,
Origa R
Orphanet J Rare Dis
2010 May 21;5:11.
doi: 10.1186/1750-1172-5-11.
PMID: 20492708Free PMC Article
Therapy
Ferrada MA,
Sikora KA,
Luo Y,
Wells KV,
Patel B,
Groarke EM,
Ospina Cardona D,
Rominger E,
Hoffmann P,
Le MT,
Deng Z,
Quinn KA,
Rose E,
Tsai WL,
Wigerblad G,
Goodspeed W,
Jones A,
Wilson L,
Schnappauf O,
Laird RS,
Kim J,
Allen C,
Sirajuddin A,
Chen M,
Gadina M,
Calvo KR,
Kaplan MJ,
Colbert RA,
Aksentijevich I,
Young NS,
Savic S,
Kastner DL,
Ombrello AK,
Beck DB,
Grayson PC
Arthritis Rheumatol
2021 Oct;73(10):1886-1895.
Epub 2021 Aug 31
doi: 10.1002/art.41743.
PMID: 33779074
Rodeghiero F,
Pecci A,
Balduini CL
J Thromb Haemost
2018 Sep;16(9):1700-1710.
Epub 2018 Jul 27
doi: 10.1111/jth.14217.
PMID: 29956472
Iolascon A,
Andolfo I,
Barcellini W,
Corcione F,
Garçon L,
De Franceschi L,
Pignata C,
Graziadei G,
Pospisilova D,
Rees DC,
de Montalembert M,
Rivella S,
Gambale A,
Russo R,
Ribeiro L,
Vives-Corrons J,
Martinez PA,
Kattamis A,
Gulbis B,
Cappellini MD,
Roberts I,
Tamary H;
Working Study Group on Red Cells and Iron of the EHA
Haematologica
2017 Aug;102(8):1304-1313.
Epub 2017 May 26
doi: 10.3324/haematol.2016.161166.
PMID: 28550188Free PMC Article
Shwin KW,
Lee CR,
Goldbach-Mansky R
Dermatol Clin
2017 Jan;35(1):21-38.
doi: 10.1016/j.det.2016.07.005.
PMID: 27890235Free PMC Article
Bosticardo M,
Ferrua F,
Cavazzana M,
Aiuti A
Curr Gene Ther
2014;14(6):413-21.
doi: 10.2174/1566523214666140918103731.
PMID: 25245089
Prognosis
Gutierrez-Rodrigues F,
Kusne Y,
Fernandez J,
Lasho T,
Shalhoub R,
Ma X,
Alessi H,
Finke C,
Koster MJ,
Mangaonkar A,
Warrington KJ,
Begna K,
Xie Z,
Ombrello AK,
Viswanatha D,
Ferrada M,
Wilson L,
Go R,
Kourelis T,
Reichard K,
Olteanu H,
Darden I,
Hironaka D,
Alemu L,
Kajigaya S,
Rosenzweig S,
Calado RT,
Groarke EM,
Kastner DL,
Calvo KR,
Wu CO,
Grayson PC,
Young NS,
Beck DB,
Patel BA,
Patnaik MM
Blood
2023 Jul 20;142(3):244-259.
doi: 10.1182/blood.2022018774.
PMID: 37084382Free PMC Article
Obiorah IE,
Patel BA,
Groarke EM,
Wang W,
Trick M,
Ombrello AK,
Ferrada MA,
Wu Z,
Gutierrez-Rodrigues F,
Lotter J,
Wilson L,
Hoffmann P,
Cardona DO,
Patel N,
Dulau-Florea A,
Kastner DL,
Grayson PC,
Beck DB,
Young NS,
Calvo KR
Blood Adv
2021 Aug 24;5(16):3203-3215.
doi: 10.1182/bloodadvances.2021004976.
PMID: 34427584Free PMC Article
Iolascon A,
Russo R,
Delaunay J
Curr Opin Hematol
2011 May;18(3):146-51.
doi: 10.1097/MOH.0b013e32834521b0.
PMID: 21378561
Galanello R,
Origa R
Orphanet J Rare Dis
2010 May 21;5:11.
doi: 10.1186/1750-1172-5-11.
PMID: 20492708Free PMC Article
Wickramasinghe SN
Curr Opin Hematol
2000 Mar;7(2):71-8.
doi: 10.1097/00062752-200003000-00001.
PMID: 10698292
Clinical prediction guides
Beck DB,
Bodian DL,
Shah V,
Mirshahi UL,
Kim J,
Ding Y,
Magaziner SJ,
Strande NT,
Cantor A,
Haley JS,
Cook A,
Hill W,
Schwartz AL,
Grayson PC,
Ferrada MA,
Kastner DL,
Carey DJ,
Stewart DR
JAMA
2023 Jan 24;329(4):318-324.
doi: 10.1001/jama.2022.24836.
PMID: 36692560Free PMC Article
Nunes-Santos CJ,
Koh C,
Rai A,
Sacco K,
Marciano BE,
Kleiner DE,
Marko J,
Bergerson JRE,
Stack M,
Rivera MM,
Constantine G,
Strober W,
Uzel G,
Fuss IJ,
Notarangelo LD,
Holland SM,
Rosenzweig SD,
Heller T
J Allergy Clin Immunol
2022 Jan;149(1):400-409.e3.
Epub 2021 Jun 1
doi: 10.1016/j.jaci.2021.05.028.
PMID: 34087243Free PMC Article
Ferrada MA,
Sikora KA,
Luo Y,
Wells KV,
Patel B,
Groarke EM,
Ospina Cardona D,
Rominger E,
Hoffmann P,
Le MT,
Deng Z,
Quinn KA,
Rose E,
Tsai WL,
Wigerblad G,
Goodspeed W,
Jones A,
Wilson L,
Schnappauf O,
Laird RS,
Kim J,
Allen C,
Sirajuddin A,
Chen M,
Gadina M,
Calvo KR,
Kaplan MJ,
Colbert RA,
Aksentijevich I,
Young NS,
Savic S,
Kastner DL,
Ombrello AK,
Beck DB,
Grayson PC
Arthritis Rheumatol
2021 Oct;73(10):1886-1895.
Epub 2021 Aug 31
doi: 10.1002/art.41743.
PMID: 33779074
Denecke J,
Marquardt T
Biochim Biophys Acta
2009 Sep;1792(9):915-20.
Epub 2008 Dec 25
doi: 10.1016/j.bbadis.2008.12.005.
PMID: 19150496
Marks PW,
Mitus AJ
Am J Hematol
1996 Jan;51(1):55-63.
doi: 10.1002/(SICI)1096-8652(199601)51:1<55::AID-AJH9>3.0.CO;2-6.
PMID: 8571938