Genetic Insights into Congenital Neutropenia

被引：20

作者：

Klein, Christoph ^{[1
]}

Welte, Karl ^{[2
]}

机构：

[1] Hannover Med Sch, Dept Pediat Hematol Oncol, D-30625 Hannover, Germany

[2] Hannover Med Sch, Dept Mol Hematopoiesis, D-30625 Hannover, Germany

来源：

CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY | 2010年 / 38卷 / 01期

关键词：

Congenital neutropenia; Immunodeficiency syndrome; ELA2; mutations; HERMANSKY-PUDLAK-SYNDROME; COLONY-STIMULATING FACTOR; CSF3R MUTATIONS; WHIM-SYNDROME; DEFICIENCY CAUSES; HAX1; DEFICIENCY; BETA-3A SUBUNIT; PROTEIN; ELA2; EXPRESSION;

D O I：

10.1007/s12016-009-8130-5

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Congenital neutropenia syndromes comprise a heterogeneous group of disorders leading to increased susceptibility to bacterial infections. Recent work has elucidated the molecular basis of several congenital neutropenia syndromes such as mutations in ELA2, HAX1, GF11, and WAS. In addition, a number of complex clinical syndromes associating congenital neutropenia have been recognized and elucidated on a genetic level, e.g. p14-deficiency or G6PC3-deficiency. The clinical and genetic findings of various neutropenia syndromes are being discussed.

引用

页码：68 / 74

页数：7

共 79 条

[11] EFFECT OF RECOMBINANT HUMAN GRANULOCYTE-COLONY-STIMULATING FACTOR IN RETICULAR DYSGENESIS [J].

BUJAN, W ;

FERSTER, A ;

SARIBAN, E ;

FRIEDRICH, W .

BLOOD, 1993, 82 (05) :1684-1684

[12] Central nervous system involvement in severe congenital neutropenia:: neurological and neuropsychological abnormalities associated with specific HAX1 mutations [J].

Carlsson, G. ;

van't Hooft, I. ;

Melin, M. ;

Entesarian, M. ;

Laurencikas, E. ;

Nennesmo, I. ;

Trebinska, A. ;

Grzybowska, E. ;

Palmblad, J. ;

Dahl, N. ;

Nordenskjold, M. ;

Fadeel, B. ;

Henter, J-I .

JOURNAL OF INTERNAL MEDICINE, 2008, 264 (04) :388-400

[13] Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original "Kostmann family" and a review [J].

Carlsson, G ;

Fasth, A .

ACTA PAEDIATRICA, 2001, 90 (07) :757-764

[14]

Carlsson G, 2006, HAEMATOLOGICA, V91, P589

[15]

CHEDIAK M M, 1952, Rev Hematol, V7, P362

[16] Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels [J].

Chen, Wei-Min ;

Erdos, Michael R. ;

Jackson, Anne U. ;

Saxena, Richa ;

Sanna, Serena ;

Silver, Kristi D. ;

Timpson, Nicholas J. ;

Hansen, Torben ;

Orru, Marco ;

Piras, Maria Grazia ;

Bonnycastle, Lori L. ;

Willer, Cristen J. ;

Lyssenko, Valeriya ;

Shen, Haiqing ;

Kuusisto, Johanna ;

Ebrahim, Shah ;

Sestu, Natascia ;

Duren, William L. ;

Spada, Maria Cristina ;

Stringham, Heather M. ;

Scott, Laura J. ;

Olla, Nazario ;

Swift, Amy J. ;

Najjar, Samer ;

Mitchell, Braxton D. ;

Lawlor, Debbie A. ;

Smith, George Davey ;

Ben-Shlomo, Yoav ;

Andersen, Gitte ;

Borch-Johnsen, Knut ;

Jorgensen, Torben ;

Saramies, Jouko ;

Valle, Timo T. ;

Buchanan, Thomas A. ;

Shuldiner, Alan R. ;

Lakatta, Edward ;

Bergman, Richard N. ;

Uda, Manuela ;

Tuomilehto, Jaakko ;

Pedersen, Oluf ;

Cao, Antonio ;

Groop, Leif ;

Mohlke, Karen L. ;

Laakso, Markku ;

Schlessinger, David ;

Collins, Francis S. ;

Altshuler, David ;

Abecasis, Goncalo R. ;

Boehnke, Michael ;

Scuteri, Angelo .

JOURNAL OF CLINICAL INVESTIGATION, 2008, 118 (07) :2620-2628

[17] Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse [J].

Clark, RH ;

Stinchcombe, JC ;

Day, A ;

Blott, E ;

Booth, S ;

Bossi, G ;

Hamblin, T ;

Davies, EG ;

Griffiths, GM .

NATURE IMMUNOLOGY, 2003, 4 (11) :1111-1120

[18]

DE VO, 1959, LANCET, V2, P1123

[19] Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor [J].

Dell'Angelica, EC ;

Shotelersuk, V ;

Aguilar, RC ;

Gahl, WA ;

Bonifacino, JS .

MOLECULAR CELL, 1999, 3 (01) :11-21

[20] Bad signals jam organelle traffic [J].

Dell'Angelica, Esteban C. .

NATURE MEDICINE, 2007, 13 (01) :31-32

← 1 2 3 4 5 6 7 8 →