共 20 条
X-linked Hyper IgM Syndrome: A Novel Sequence Variant Associated With An Atypical Mild Phenotype
被引:3
作者:

Buchbinder, David
论文数: 0 引用数: 0
h-index: 0
机构:
CHOC Childrens Hosp, Div Hematol, Orange, CA 92868 USA CHOC Childrens Hosp, Div Hematol, Orange, CA 92868 USA

Park, Sang
论文数: 0 引用数: 0
h-index: 0
机构:
CHOC Childrens Hosp, Div Hematol, Orange, CA 92868 USA CHOC Childrens Hosp, Div Hematol, Orange, CA 92868 USA

Nugent, Diane
论文数: 0 引用数: 0
h-index: 0
机构:
CHOC Childrens Hosp, Div Hematol, Orange, CA 92868 USA CHOC Childrens Hosp, Div Hematol, Orange, CA 92868 USA
机构:
[1] CHOC Childrens Hosp, Div Hematol, Orange, CA 92868 USA
关键词:
primary immune deficiency;
chronic neutropenia;
CD40;
ligand;
CD40;
LIGAND;
NEUTROPENIA;
MUTATIONS;
EXPRESSION;
GENE;
D O I:
10.1097/MPH.0b013e318241fa1b
中图分类号:
R73 [肿瘤学];
学科分类号:
100214 ;
摘要:
X-linked hyper IgM syndrome is associated with abnormalities in the gene encoding CD40 ligand (CD40LG). A typical phenotype evolves during infancy in affected males. This phenotype includes neutropenia, dysgammaglobulinemia, bacterial sinopulmonary infections, and opportunistic infections. In the absence of the typical phenotypic features, clinicians must maintain a high level of suspicion for X-linked hyper IgM syndrome. We describe a unique hemizygous CD40LG mutation which was discovered in a 12-year-old boy with chronic severe neutropenia, a normal IgG level, and absence of sinopulmonary or opportunistic infections. The clinical implications of this mutation and associated atypical phenotype are discussed.
引用
收藏
页码:E212 / E214
页数:3
相关论文
共 20 条
[1]
Clinical and Molecular Characterization of X-linked Hyper-IgM Syndrome Patients in China
[J].
An, Y.
;
Xiao, J.
;
Jiang, L.
;
Yang, X.
;
Yu, J.
;
Zhao, X.
.
SCANDINAVIAN JOURNAL OF IMMUNOLOGY,
2010, 72 (01)
:50-56

An, Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Chongqing Med Univ, Childrens Hosp, Div Immunol & Nephrol, Chongqing 400014, Peoples R China Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China

Xiao, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Chongqing Med Univ, Childrens Hosp, Div Hematol, Chongqing 400014, Peoples R China Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China

Jiang, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Chongqing Med Univ, Childrens Hosp, Clin Immunol Res Ctr, Chongqing 400014, Peoples R China Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China

Yang, X.
论文数: 0 引用数: 0
h-index: 0
机构:
Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Chongqing Med Univ, Childrens Hosp, Div Immunol & Nephrol, Chongqing 400014, Peoples R China Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China

Yu, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Chongqing Med Univ, Childrens Hosp, Div Hematol, Chongqing 400014, Peoples R China Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China

Zhao, X.
论文数: 0 引用数: 0
h-index: 0
机构:
Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Chongqing Med Univ, Childrens Hosp, Div Immunol & Nephrol, Chongqing 400014, Peoples R China Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
[2]
Diagnosis and clinical course of autoimmune neutropenia in infancy: Analysis of 240 cases
[J].
Bux, J
;
Behrens, G
;
Jaeger, G
;
Welte, K
.
BLOOD,
1998, 91 (01)
:181-186

Bux, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Giessen, Inst Clin Immunol & Transfus Med, D-35385 Giessen, Germany

Behrens, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Giessen, Inst Clin Immunol & Transfus Med, D-35385 Giessen, Germany

Jaeger, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Giessen, Inst Clin Immunol & Transfus Med, D-35385 Giessen, Germany

Welte, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Giessen, Inst Clin Immunol & Transfus Med, D-35385 Giessen, Germany
[3]
Fevers and mouth ulcers
[J].
Codarini, M
;
Teo, J
.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH,
2001, 37 (05)
:507-509

Codarini, M
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Dept Immunol & Infect Dis, Westmead, NSW 2145, Australia Childrens Hosp Westmead, Dept Immunol & Infect Dis, Westmead, NSW 2145, Australia

Teo, J
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Dept Immunol & Infect Dis, Westmead, NSW 2145, Australia Childrens Hosp Westmead, Dept Immunol & Infect Dis, Westmead, NSW 2145, Australia
[4]
Update on the hyper immunoglobulin M syndromes
[J].
Davies, E. Graham
;
Thrasher, Adrian J.
.
BRITISH JOURNAL OF HAEMATOLOGY,
2010, 149 (02)
:167-180

Davies, E. Graham
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Child Hlth, Ctr Immunodeficiency, London, England Inst Child Hlth, Ctr Immunodeficiency, London, England

Thrasher, Adrian J.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Child Hlth, Ctr Immunodeficiency, London, England Inst Child Hlth, Ctr Immunodeficiency, London, England
[5]
CD40 LIGAND MUTATIONS IN X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM
[J].
DISANTO, JP
;
BONNEFOY, JY
;
GAUCHAT, JF
;
FISCHER, A
;
DESAINTBASILE, G
.
NATURE,
1993, 361 (6412)
:541-543

DISANTO, JP
论文数: 0 引用数: 0
h-index: 0
机构:
GLAXO INST MOLEC BIOL,GENEVA 674,SWITZERLAND GLAXO INST MOLEC BIOL,GENEVA 674,SWITZERLAND

BONNEFOY, JY
论文数: 0 引用数: 0
h-index: 0
机构:
GLAXO INST MOLEC BIOL,GENEVA 674,SWITZERLAND GLAXO INST MOLEC BIOL,GENEVA 674,SWITZERLAND

GAUCHAT, JF
论文数: 0 引用数: 0
h-index: 0
机构:
GLAXO INST MOLEC BIOL,GENEVA 674,SWITZERLAND GLAXO INST MOLEC BIOL,GENEVA 674,SWITZERLAND

FISCHER, A
论文数: 0 引用数: 0
h-index: 0
机构:
GLAXO INST MOLEC BIOL,GENEVA 674,SWITZERLAND GLAXO INST MOLEC BIOL,GENEVA 674,SWITZERLAND

DESAINTBASILE, G
论文数: 0 引用数: 0
h-index: 0
机构:
GLAXO INST MOLEC BIOL,GENEVA 674,SWITZERLAND GLAXO INST MOLEC BIOL,GENEVA 674,SWITZERLAND
[6]
Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002
[J].
Gennery, AR
;
Khawaja, K
;
Veys, P
;
Bredius, RGM
;
Notarangelo, LD
;
Mazzolari, E
;
Fischer, A
;
Landais, P
;
Cavazzana-Calvo, M
;
Friedrich, W
;
Fasth, A
;
Wulffraat, NM
;
Matthes-Martin, S
;
Bensoussan, D
;
Bordigoni, P
;
Lange, A
;
Pagliuca, A
;
Andolina, M
;
Cant, AJ
;
Davies, EG
.
BLOOD,
2004, 103 (03)
:1152-1157

Gennery, AR
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Khawaja, K
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Veys, P
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Bredius, RGM
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Notarangelo, LD
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Mazzolari, E
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Fischer, A
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Landais, P
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Cavazzana-Calvo, M
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Friedrich, W
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Fasth, A
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Wulffraat, NM
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Matthes-Martin, S
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Bensoussan, D
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Bordigoni, P
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Lange, A
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Pagliuca, A
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Andolina, M
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Cant, AJ
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

Davies, EG
论文数: 0 引用数: 0
h-index: 0
机构: Newcastle Gen Hosp, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England
[7]
The role of CD40 ligand in costimulation and T-cell activation
[J].
Grewal, IS
;
Flavell, RA
.
IMMUNOLOGICAL REVIEWS,
1996, 153
:85-106

Grewal, IS
论文数: 0 引用数: 0
h-index: 0
机构:
YALE UNIV, SCH MED, HOWARD HUGHES MED INST, IMMUNOBIOL SECT, NEW HAVEN, CT 06510 USA YALE UNIV, SCH MED, HOWARD HUGHES MED INST, IMMUNOBIOL SECT, NEW HAVEN, CT 06510 USA

Flavell, RA
论文数: 0 引用数: 0
h-index: 0
机构:
YALE UNIV, SCH MED, HOWARD HUGHES MED INST, IMMUNOBIOL SECT, NEW HAVEN, CT 06510 USA YALE UNIV, SCH MED, HOWARD HUGHES MED INST, IMMUNOBIOL SECT, NEW HAVEN, CT 06510 USA
[8]
Pitfalls of "hyper"-IgM syndrome: a new CD40 ligand mutation in the presence of low IgM levels. A case report and a critical review of the literature
[J].
Heinold, A.
;
Hanebeck, B.
;
Daniel, V.
;
Heyder, J.
;
Tran, T. H.
;
Doehler, B.
;
Greil, J.
;
Mueller, F. -M.
.
INFECTION,
2010, 38 (06)
:491-496

Heinold, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Inst Immunol, Dept Transplantat Immunol, D-69120 Heidelberg, Germany Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Inst Immunol, Dept Transplantat Immunol, D-69120 Heidelberg, Germany

Hanebeck, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Dept Gen Pediat, D-69120 Heidelberg, Germany Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Inst Immunol, Dept Transplantat Immunol, D-69120 Heidelberg, Germany

论文数: 引用数:
h-index:
机构:

Heyder, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Inst Immunol, Dept Transplantat Immunol, D-69120 Heidelberg, Germany Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Inst Immunol, Dept Transplantat Immunol, D-69120 Heidelberg, Germany

Tran, T. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Inst Immunol, Dept Transplantat Immunol, D-69120 Heidelberg, Germany Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Inst Immunol, Dept Transplantat Immunol, D-69120 Heidelberg, Germany

Doehler, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Inst Immunol, Dept Transplantat Immunol, D-69120 Heidelberg, Germany Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Inst Immunol, Dept Transplantat Immunol, D-69120 Heidelberg, Germany

Greil, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Dept Pediat Oncol Hematol Immunol & Pulmonol, D-69120 Heidelberg, Germany Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Inst Immunol, Dept Transplantat Immunol, D-69120 Heidelberg, Germany

Mueller, F. -M.
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Dept Pediat Oncol Hematol Immunol & Pulmonol, D-69120 Heidelberg, Germany Heidelberg Univ, Univ Hosp Pediat & Adolescent Med, Inst Immunol, Dept Transplantat Immunol, D-69120 Heidelberg, Germany
[9]
Intravenous immunoglobulins in immunodeficiencies: more than mere replacement therapy
[J].
Kaveri, S. V.
;
Maddur, M. S.
;
Hegde, P.
;
Lacroix-Desmazes, S.
;
Bayry, J.
.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY,
2011, 164
:2-5

Kaveri, S. V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, INSERM, Ctr Rech Cordeliers, UMRS 872,U872, 15 Rue Ecole Med, F-75006 Paris, France
Univ Paris 06, Ctr Rech Cordeliers, Unite Mixte Rech Sante 872, F-75006 Paris, France
Univ Paris 05, Unite Mixte Rech Sante 872, Paris, France Univ Paris 06, INSERM, Ctr Rech Cordeliers, UMRS 872,U872, 15 Rue Ecole Med, F-75006 Paris, France

Maddur, M. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, Ctr Rech Cordeliers, Unite Mixte Rech Sante 872, F-75006 Paris, France
Univ Paris 05, Unite Mixte Rech Sante 872, Paris, France Univ Paris 06, INSERM, Ctr Rech Cordeliers, UMRS 872,U872, 15 Rue Ecole Med, F-75006 Paris, France

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Bayry, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, Ctr Rech Cordeliers, Unite Mixte Rech Sante 872, F-75006 Paris, France
Univ Paris 05, Unite Mixte Rech Sante 872, Paris, France Univ Paris 06, INSERM, Ctr Rech Cordeliers, UMRS 872,U872, 15 Rue Ecole Med, F-75006 Paris, France
[10]
Virulence of Pseudomonas aeruginosa in a murine model of gastrointestinal colonization and dissemination in neutropenia
[J].
Koh, AY
;
Priebe, GP
;
Pier, GB
.
INFECTION AND IMMUNITY,
2005, 73 (04)
:2262-2272

Koh, AY
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Brigham & Womens Hosp, Channing Lab,Dept Med, Boston, MA 02115 USA

Priebe, GP
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Brigham & Womens Hosp, Channing Lab,Dept Med, Boston, MA 02115 USA

Pier, GB
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Brigham & Womens Hosp, Channing Lab,Dept Med, Boston, MA 02115 USA