COMMON VARIABLE IMMUNODEFICIENCY AND EARLY-ONSET AUTOIMMUNE MANIFESTATIONS ASSOCIATED WITH COUPLED MUTATIONS IN NFKB2 AND STAT5A GENES

被引：0

作者：

Maccari, Maria-Elena ^{[1
]}

Floris, Matteo ^{[2
,3
]}

Corrente, Stefania ^{[4
,5
]}

Angius, Andrea ^{[2
,3
]}

Sartirana, Claudia ^{[1
]}

Di Cesare, Silvia ^{[4
]}

Rosenberg, Jacob M. ^{[6
]}

Utz, Paul J. ^{[6
]}

Bulfone, Alessandro ^{[2
]}

Angelini, Federica ^{[5
,8
]}

Fierabracci, Alessandra ^{[7
,9
]}

Cambiaso, Paola ^{[4
]}

Aiuti, Alessandro ^{[1
,4
,5
]}

Cappa, Marco ^{[4
]}

Cancrini, Caterina ^{[4
,5
]}

Bacchetta, Rosa ^{[1
,10
]}

机构：

[1] Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, Italy

[2] Crs4, Biomed, Pula, CA, Italy

[3] Cittadella Univ Monserrato, CNR, IRGB, Monserrato, CA, Italy

[4] Bambino Gesu Childrens Hosp IRCCS, Univ Dept Paediat, DPUO, Rome, Italy

[5] Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy

[6] Stanford Univ, Sch Med, Div Rheumatol & Immunol, Dept Med, Stanford, CA 94305 USA

[7] Bioflag Srl, Pula, CA USA

[8] CHU Vaudois, Dept Med Chirurg Pediat, Unite Immuno Allergol & Rhumatol, Lausanne, Switzerland

[9] Bambino Gesu Childrens Hosp IRCCS, Immunol & Pharmacotherapy Area, Rome, Italy

[10] Stanford Univ, Sch Med, Dept Pediat, Pediat Translat & Regenerat Med, Stanford, CA 94305 USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2015年 / 35卷 / 03期

关键词：

D O I：

暂无

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

3699

引用

页码：317 / 317

页数：1

共 8 条

[1] Novel NFKB2 mutation associated with early-onset common variable immunodeficiency
Liu, Y.
Hanson, S.
Gurugama, P.
Jones, A.
Clark, B.
Ibrahim, M. A. A.
IMMUNOLOGY, 2014, 143 : 172 - 172
[2] Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency
Chen, Karin
Coonrod, Emily M.
Kumanovics, Attila
Franks, Zechariah F.
Durtschi, Jacob D.
Margraf, Rebecca L.
Wu, Wilfred
Heikal, Nahla M.
Augustine, Nancy H.
Ridge, Perry G.
Hill, Harry R.
Jorde, Lynn B.
Weyrich, Andrew S.
Zimmerman, Guy A.
Gundlapalli, Adi V.
Bohnsack, John F.
Voelkerding, Karl V.
AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (05) : 812 - 824
[3] Psoriasiform dermatitis associated with common variable immunodeficiency 10 due to an Arg853*mutation in the NFKB2 gene
Nagai, Makoto
Imai, Yasutomo
Yamanishi, Kiyofumi
JOURNAL OF DERMATOLOGY, 2019, 46 (01): : E24 - E26
[4] Mutations in MODY Genes Are not Common Cause of Early-Onset Type 2 Diabetes in Mexican Families
Dominguez-Lopez, Aaron
Miliar-Garcia, Angel
Segura-Kato, Yayoi X.
Riba, Laura
Esparza-Lopez, Jose
Ramirez-Jimenez, Salvador
Rodriguez-Torres, Maribel
Canizales-Quinteros, Samuel
Cabrera-Vasquez, Siraam
Fragoso-Ontiveros, Veronica
Aguilar-Salinas, Carlos A.
Altamirano-Bustamante, Nelly
Calzada-Leon, Raul
Robles-Valdes, Carlos
Bravo-Rios, Luz E.
Teresa Tusie-Luna, Maria
JOURNAL OF THE PANCREAS, 2005, 6 (03): : 238 - 245
[5] Early-Onset Common Variable Immunodeficiency in a Patient with Heterozygous Variants in Interferon Response-Associated Genes TRAF3 and IRF4
Le, Kim My
Mamia, Nanni
Kaustio, Meri
Keskitalo, Salla
Kettunen, Kaisa
Varjosalo, Markku
Seppanen, Mikko R. J.
Martelius, Timi
Saarela, Janna
Gronholm, Juha
EUROPEAN JOURNAL OF IMMUNOLOGY, 2024, 54 : 628 - 628
[6] Early-Onset Common Variable Immunodeficiency in a Patient with Heterozygous Variants in Interferon Response-Associated Genes TRAF3 and IRF4
Le, Kim My
Mamia, Nanni
Kaustio, Meri
Keskitalo, Salla
Kettunen, Kaisa
Kere, Juha
Varjosalo, Markku
Seppanen, Mikko
Martelius, Timi
Saarela, Janna
Gronholm, Juha
CLINICAL IMMUNOLOGY, 2024, 262
[7] Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism
Podhajska, Agata
Musso, Alessandra
Trancikova, Alzbeta
Stafa, Klodjan
Moser, Roger
Sonnay, Sarah
Glauser, Liliane
Moore, Darren J.
PLOS ONE, 2012, 7 (06):
[8] Mutations in the genes for hepatocyte nuclear factor (HNF)-1α,-4α,-1β, and-3β;: the dimerization cofactor of HNF-1;: and insulin promoter factor 1 are not common causes of early-onset type 2 diabetes in pima Indians
Baier, LJ
Permana, PA
Traurig, M
Dobberfuhl, A
Wiedrich, C
Sutherland, J
Thuillez, P
Luczy-Bachman, G
Hara, M
Horikawa, Y
Hinokio, Y
Hanson, RL
Bogardus, C
DIABETES CARE, 2000, 23 (03) : 302 - 304

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