A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens

被引：22

作者：

Chou, Janet ^{[1
]}

Massaad, Michel J. ^{[1
]}

Cangemi, Brittney ^{[1
]}

Bainter, Wayne ^{[1
]}

Platt, Craig ^{[1
]}

Badran, Yousef R. ^{[1
]}

Raphael, Bram P. ^{[2
,3
]}

Kamin, Daniel S. ^{[2
,3
]}

Goldsmith, Jeffrey D. ^{[4
,5
]}

Pai, Sung-Yun ^{[6
,7
]}

Al-Herz, Waleed ^{[8
]}

Geha, Raif S. ^{[1
]}

机构：

[1] Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA

[2] Boston Childrens Hosp, Div Gastroenterol Hepatol & Nutr, Boston, MA USA

[3] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA

[4] Boston Childrens Hosp, Dept Pathol, Boston, MA USA

[5] Beth Israel Deaconess Med Ctr, Boston, MA 02215 USA

[6] Boston Childrens Hosp, Div Hematol Oncol, Boston, MA USA

[7] Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA

[8] Kuwait Univ, Fac Med, Dept Pediat, Kuwait, Kuwait

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2015年 / 136卷 / 03期

关键词：

COMMON VARIABLE IMMUNODEFICIENCY; DEFICIENCY; CELLS; CD4;

D O I：

10.1016/j.jaci.2014.12.1940

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

[No abstract available]

引用

页码：794 / +

页数：4

共 12 条

[1] ICOS deficiency is associated with a severe reduction of CXCR5+ CD4 germinal center Th cells [J].

Bossaller, Lukas ;

Burger, Jan ;

Draeger, Ruth ;

Grimbacher, Bodo ;

Knoth, Rolf ;

Plebani, Alessandro ;

Durandy, Anne ;

Baumann, Ulrich ;

Schlesier, Michael ;

Welcher, Andrew A. ;

Peter, Hans Hartmut ;

Warnatz, Klaus .

JOURNAL OF IMMUNOLOGY, 2006, 177 (07) :4927-4932

[2] Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency [J].

Grimbacher, B ;

Hutloff, A ;

Schlesier, M ;

Glocker, E ;

Warnatz, K ;

Dräger, R ;

Eibel, H ;

Fischer, B ;

Schäffer, AA ;

Mages, HW ;

Kroczek, RA ;

Peter, HH .

NATURE IMMUNOLOGY, 2003, 4 (03) :261-268

[3] Pattern Recognition Receptor Signaling in Human Dendritic Cells is Enhanced by ICOS Ligand and Modulated by the Crohn's Disease ICOSLG Risk Allele [J].

Hedl, Matija ;

Lahiri, Amit ;

Ning, Kaida ;

Cho, Judy H. ;

Abraham, Clara .

IMMUNITY, 2014, 40 (05) :734-746

[4]

JOLLIFF CR, 1982, CLIN CHEM, V28, P126

[5] The role of alveolar macrophages in Pneumocystis carinii degradation and clearance from the lung [J].

Limper, AH ;

Hoyte, JS ;

Standing, JE .

JOURNAL OF CLINICAL INVESTIGATION, 1997, 99 (09) :2110-2117

[6] Orphan receptor IL-17RD tunes IL-17A signalling and is required for neutrophilia [J].

Mellett, Mark ;

Atzei, Paola ;

Horgan, Alan ;

Hams, Emily ;

Floss, Thomas ;

Wurst, Wolfgang ;

Fallon, Padraic G. ;

Moynagh, Paul N. .

NATURE COMMUNICATIONS, 2012, 3

[7] Reference values for B cell subpopulations from infancy to adulthood [J].

Morbach, H. ;

Eichhorn, E. M. ;

Liese, J. G. ;

Girschick, H. J. .

CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2010, 162 (02) :271-279

[8] Lymphocyte subsets in healthy children from birth through 18 years of age: The pediatric AIDS clinical trials group P1009 study [J].

Shearer, WT ;

Rosenblatt, HM ;

Gelman, RS ;

Oymopito, R ;

Plaeger, S ;

Stiehm, ER ;

Wara, DW ;

Douglas, SD ;

Luzuriaga, K ;

McFarland, EJ ;

Yogev, R ;

Rathore, MH ;

Levy, W ;

Graham, BL ;

Spector, SA .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2003, 112 (05) :973-980

[9] Impaired CD4 and CD8 Effector Function and Decreased Memory T Cell Populations in ICOS-Deficient Patients [J].

Takahashi, Naomi ;

Matsumoto, Kenji ;

Saito, Hirohisa ;

Nanki, Toshihiro ;

Miyasaka, Nobuyuki ;

Kobata, Tetsuji ;

Azuma, Miyuki ;

Lee, Sang-Kyou ;

Mizutani, Shuki ;

Morio, Tomohiro .

JOURNAL OF IMMUNOLOGY, 2009, 182 (09) :5515-5527

[10] A novel role for villin in intestinal epithelial cell survival and homeostasis [J].

Wang, Yaohong ;

Srinivasan, Kamalakkannan ;

Siddiqui, Mohammad Rizwan ;

George, Sudeep P. ;

Tomar, Alok ;

Khurana, Seema .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2008, 283 (14) :9454-9464

← 1 2 →