Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways

被引：30

作者：

Candotti, F

Notarangelo, L

Visconti, R

O'Shea, J

机构：

[1] Natl Inst Arthritis & Musculoskeletal & Skin Dis, Mol Immunol & Inflammat Branch, Bethesda, MD 20892 USA

[2] Natl Human Genome Res Inst, Genet & Mol Biol Branch, NIH, Bethesda, MD USA

[3] Univ Brescia, Dept Pediat, Brescia, Italy

[4] Univ Frederico 2, Dept Pathol, Naples, Italy

来源：

JOURNAL OF CLINICAL INVESTIGATION | 2002年 / 109卷 / 10期

关键词：

D O I：

10.1172/JCI200215769

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

引用

页码：1261 / 1269

页数：9

共 64 条

[21] DNA-DEPENDENT PROTEIN-KINASE CATALYTIC SUBUNIT - A RELATIVE OF PHOSPHATIDYLINOSITOL 3-KINASE AND THE ATAXIA-TELANGIECTASIA GENE-PRODUCT [J].

HARTLEY, KO ;

GELL, D ;

SMITH, GCM ;

ZHANG, H ;

DIVECHA, N ;

CONNELLY, MA ;

ADMON, A ;

LEESMILLER, SP ;

ANDERSON, CW ;

JACKSON, SP .

CELL, 1995, 82 (05) :849-856

[22]

Hershfield MS, 2001, METABOLIC MOL BASES, P2585

[23]

Hirschhorn R, 1999, PRIMARY IMMUNODEFICIENCY DISEASES, P121

[24] Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency [J].

Hirschhorn, R ;

Yang, DRX ;

Puck, JM ;

Huie, ML ;

Jiang, CK ;

Kurlandsky, LE .

NATURE GENETICS, 1996, 13 (03) :290-295

[25] Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia [J].

Jain, A ;

Ma, CA ;

Liu, SY ;

Brown, M ;

Cohen, J ;

Strober, W .

NATURE IMMUNOLOGY, 2001, 2 (03) :223-228

[26] A fever gene comes in from the cold [J].

Kastner, DL ;

O'Shea, JJ .

NATURE GENETICS, 2001, 29 (03) :241-242

[27] Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein [J].

Kim, AS ;

Kakalis, LT ;

Abdul-Manan, M ;

Liu, GA ;

Rosen, MK .

NATURE, 2000, 404 (6774) :151-158

[28] T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34+ cells in ADA-deficient SCID neonates [J].

Kohn, DB ;

Hershfield, MS ;

Carbonaro, D ;

Shigeoka, A ;

Brooks, J ;

Smogorzewska, EM ;

Barsky, LW ;

Chan, R ;

Burotto, F ;

Annett, G ;

Nolta, JA ;

Crooks, G ;

Kapoor, N ;

Elder, M ;

Wara, D ;

Bowen, T ;

Madsen, E ;

Snyder, FF ;

Bastian, J ;

Muul, L ;

Blaese, RM ;

Weinberg, K ;

Parkman, R .

NATURE MEDICINE, 1998, 4 (07) :775-780

[29]

Kung C, 2000, NAT MED, V6, P343

[30] The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter [J].

Lühn, K ;

Wild, MK ;

Eckhardt, M ;

Gerardy-Schahn, R ;

Vestweber, D .

NATURE GENETICS, 2001, 28 (01) :69-72

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