共 79 条
Infections in DNA Repair Defects
被引:4
作者:

Demirdag, Yesim Yilmaz
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Irvine, Dept Med, Div Basic & Clin Immunol, Irvine, CA 92617 USA Univ Calif Irvine, Dept Med, Div Basic & Clin Immunol, Irvine, CA 92617 USA

Gupta, Sudhir
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Irvine, Dept Med, Div Basic & Clin Immunol, Irvine, CA 92617 USA Univ Calif Irvine, Dept Med, Div Basic & Clin Immunol, Irvine, CA 92617 USA
机构:
[1] Univ Calif Irvine, Dept Med, Div Basic & Clin Immunol, Irvine, CA 92617 USA
来源:
关键词:
inborn errors of immunity;
immunodeficiency;
DNA repair disorders;
ataxia telangiectasia;
infections;
Nijmegen breakage syndrome;
Bloom syndrome;
NIJMEGEN BREAKAGE SYNDROME;
RETICULATE PIGMENTARY DISORDER;
ATAXIA-TELANGIECTASIA;
FACIAL DYSMORPHISM;
SHORT STATURE;
CLINICAL CHARACTERISTICS;
SYSTEMIC MANIFESTATIONS;
CENTROMERIC INSTABILITY;
GROWTH-RETARDATION;
BLOOMS-SYNDROME;
D O I:
10.3390/pathogens12030440
中图分类号:
Q93 [微生物学];
学科分类号:
071005 ;
100705 ;
摘要:
DNA repair defects are heterogenous conditions characterized by a wide spectrum of clinical phenotypes. The common presentations of DNA repair defects include increased risk of cancer, accelerated aging, and defects in the development of various organs and systems. The immune system can be affected in a subset of these disorders leading to susceptibility to infections and autoimmunity. Infections in DNA repair defects may occur due to primary defects in T, B, or NK cells and other factors such as anatomic defects, neurologic disorders, or during chemotherapy. Consequently, the characteristics of the infections may vary from mild upper respiratory tract infections to severe, opportunistic, and even fatal infections with bacteria, viruses, or fungi. Here, infections in 15 rare and sporadic DNA repair defects that are associated with immunodeficiencies are discussed. Because of the rarity of some of these conditions, limited information is available regarding infectious complications.
引用
收藏
页数:15
相关论文
共 79 条
[1]
Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features
[J].
Alghamdi, Hamza A.
;
Tashkandi, Suha A.
;
Alidrissi, Eman M.
;
Aledielah, Rawan D.
;
AlSaidi, Khelad A.
;
Alharbi, Enas S.
;
Habazi, Murad K.
;
Alzahrani, Mofareh S.
.
JOURNAL OF CLINICAL IMMUNOLOGY,
2018, 38 (08)
:847-853

Alghamdi, Hamza A.
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia

Tashkandi, Suha A.
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Cytogenet Lab, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia

Alidrissi, Eman M.
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia

Aledielah, Rawan D.
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia

AlSaidi, Khelad A.
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Cytogenet Lab, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia

Alharbi, Enas S.
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia

Habazi, Murad K.
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia

Alzahrani, Mofareh S.
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia King Fahad Med City, Childrens Specialized Hosp, Allergy & Immunol Sect, Makkah Almukaramah Rd,Sulimaniyah 6481, Riyadh 12231, Saudi Arabia
[2]
Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients
[J].
Amirifar, Parisa
;
Mozdarani, Hossein
;
Yazdani, Reza
;
Kiaei, Fatemeh
;
Moeini Shad, Tannaz
;
Shahkarami, Sepideh
;
Abolhassani, Hassan
;
Delavari, Samaneh
;
Sohani, Mahsa
;
Rezaei, Arezou
;
Hassanpour, Gholamreza
;
Akrami, Seyed Mohammad
;
Aghamohammadi, Asghar
.
IMMUNOLOGICAL INVESTIGATIONS,
2021, 50 (2-3)
:201-215

Amirifar, Parisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran
Univ Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Res Ctr Immunodeficiencies, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

论文数: 引用数:
h-index:
机构:

Yazdani, Reza
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Res Ctr Immunodeficiencies, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

Kiaei, Fatemeh
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Res Ctr Immunodeficiencies, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

Moeini Shad, Tannaz
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Res Ctr Immunodeficiencies, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

Shahkarami, Sepideh
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Res Ctr Immunodeficiencies, Tehran, Iran
USERN, Med Genet Network Megene, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

Abolhassani, Hassan
论文数: 0 引用数: 0
h-index: 0
机构:
Iran Univ Med Sci, Res Ctr Primary Immunodeficiencies, Tehran, Iran
Karolinska Inst, Karolinska Univ Hosp Huddinge, Dept Lab Med, Div Clin Immunol, Stockholm, Sweden Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

Delavari, Samaneh
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Res Ctr Immunodeficiencies, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

Sohani, Mahsa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Res Ctr Immunodeficiencies, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

Rezaei, Arezou
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Res Ctr Immunodeficiencies, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

Hassanpour, Gholamreza
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Ctr Res Endem Parasites Iran, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

Akrami, Seyed Mohammad
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

Aghamohammadi, Asghar
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Res Ctr Immunodeficiencies, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran
[3]
X-linked reticulate pigmentary disorder with systemic manifestations: Report of a third family and literature review
[J].
Anderson, RC
;
Zinn, AR
;
Kim, J
;
Carder, KR
.
PEDIATRIC DERMATOLOGY,
2005, 22 (02)
:122-126

Anderson, RC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Texas, SW Med Sch, Dept Dermatol, Dallas, TX 75230 USA

Zinn, AR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Texas, SW Med Sch, Dept Dermatol, Dallas, TX 75230 USA

Kim, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Texas, SW Med Sch, Dept Dermatol, Dallas, TX 75230 USA

Carder, KR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Texas, SW Med Sch, Dept Dermatol, Dallas, TX 75230 USA
[4]
MUTATIONS IN THE DNA LIGASE-I GENE OF AN INDIVIDUAL WITH IMMUNODEFICIENCIES AND CELLULAR-HYPERSENSITIVITY TO DNA-DAMAGING AGENTS
[J].
BARNES, DE
;
TOMKINSON, AE
;
LEHMANN, AR
;
WEBSTER, ADB
;
LINDAHL, T
.
CELL,
1992, 69 (03)
:495-503

BARNES, DE
论文数: 0 引用数: 0
h-index: 0
机构: UNIV SUSSEX, MRC, CELL MUTAT UNIT, BRIGHTON BN1 9RR, E SUSSEX, ENGLAND

TOMKINSON, AE
论文数: 0 引用数: 0
h-index: 0
机构: UNIV SUSSEX, MRC, CELL MUTAT UNIT, BRIGHTON BN1 9RR, E SUSSEX, ENGLAND

LEHMANN, AR
论文数: 0 引用数: 0
h-index: 0
机构: UNIV SUSSEX, MRC, CELL MUTAT UNIT, BRIGHTON BN1 9RR, E SUSSEX, ENGLAND

WEBSTER, ADB
论文数: 0 引用数: 0
h-index: 0
机构: UNIV SUSSEX, MRC, CELL MUTAT UNIT, BRIGHTON BN1 9RR, E SUSSEX, ENGLAND

LINDAHL, T
论文数: 0 引用数: 0
h-index: 0
机构: UNIV SUSSEX, MRC, CELL MUTAT UNIT, BRIGHTON BN1 9RR, E SUSSEX, ENGLAND
[5]
Epstein-Barr Virus-associated Extranodal Marginal Zone Lymphoma of Mucosa-associated Lymphoid Tissue (MALT Lymphoma) Arising in the Parotid Gland of a Child With Ataxia Telangiectasia
[J].
Bennett, Jennifer A.
;
Bayerl, Michael G.
.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY,
2015, 37 (02)
:E114-E117

Bennett, Jennifer A.
论文数: 0 引用数: 0
h-index: 0
机构:
Penn State Milton S Hershey Med Ctr, Dept Pathol, Hershey, PA USA Penn State Milton S Hershey Med Ctr, Dept Pathol, Hershey, PA USA

Bayerl, Michael G.
论文数: 0 引用数: 0
h-index: 0
机构:
Penn State Milton S Hershey Med Ctr, Dept Pathol, Hershey, PA USA Penn State Milton S Hershey Med Ctr, Dept Pathol, Hershey, PA USA
[6]
A case of wild-type rubella-associated cutaneous granuloma in ataxia telangiectasia
[J].
Browne, Rachel
;
Cliffe, Lucy
;
Ip, Winne
;
Brown, Kevin
;
McDermott, Elizabeth
.
PEDIATRIC DERMATOLOGY,
2022, 39 (04)
:619-621

Browne, Rachel
论文数: 0 引用数: 0
h-index: 0
机构:
Nottingham Univ Hosp NHS Trust, Dept Dermatol, Nottingham, England Nottingham Univ Hosp NHS Trust, Dept Dermatol, Nottingham, England

Cliffe, Lucy
论文数: 0 引用数: 0
h-index: 0
机构:
Nottingham Univ Hosp NHS Trust, Dept Immunol, Nottingham, England Nottingham Univ Hosp NHS Trust, Dept Dermatol, Nottingham, England

Ip, Winne
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, England Nottingham Univ Hosp NHS Trust, Dept Dermatol, Nottingham, England

Brown, Kevin
论文数: 0 引用数: 0
h-index: 0
机构:
UK Hlth Secur Agcy, Immunisat & Vaccine Preventable Dis Div, London, England Nottingham Univ Hosp NHS Trust, Dept Dermatol, Nottingham, England

McDermott, Elizabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Nottingham Univ Hosp NHS Trust, Dept Immunol, Nottingham, England Nottingham Univ Hosp NHS Trust, Dept Dermatol, Nottingham, England
[7]
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
[J].
Buchbinder, David
;
Hauck, Fabian
;
Albert, Michael H.
;
Rack, Anita
;
Bakhtiar, Shahrzad
;
Shcherbina, Anna
;
Deripapa, Elena
;
Sullivan, Kathleen E.
;
Perelygina, Ludmila
;
Eloit, Marc
;
Neven, Benedicte
;
Perot, Philippe
;
Moshous, Despina
;
Suarez, Felipe
;
Bodemer, Christine
;
Bonilla, Francisco A.
;
Vaz, Louise E.
;
Krol, Alfons L.
;
Klein, Christoph
;
Seppanen, Mikko
;
Nugent, Diane J.
;
Singh, Jasjit
;
Ochs, Hans D.
.
JOURNAL OF CLINICAL IMMUNOLOGY,
2019, 39 (01)
:81-89

Buchbinder, David
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA
Univ Calif Irvine, Dept Pediat, Orange, CA 92668 USA Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Hauck, Fabian
论文数: 0 引用数: 0
h-index: 0
机构:
LMU, Univ Hosp, Dr von Hauner Childrens Hosp, Dept Pediat, Munich, Germany Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Albert, Michael H.
论文数: 0 引用数: 0
h-index: 0
机构:
LMU, Univ Hosp, Dr von Hauner Childrens Hosp, Dept Pediat, Munich, Germany Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Rack, Anita
论文数: 0 引用数: 0
h-index: 0
机构:
LMU, Univ Hosp, Dr von Hauner Childrens Hosp, Dept Pediat, Munich, Germany Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Bakhtiar, Shahrzad
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Frankfurt, Div Pediat Stem Cell Transplantat & Immunol, Frankfurt, Germany Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Shcherbina, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Dmitry Rogachev Natl Med Res Ctr Pediat Hematol O, Dept Immunol, Moscow, Russia Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Deripapa, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Dmitry Rogachev Natl Med Res Ctr Pediat Hematol O, Dept Immunol, Moscow, Russia Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Sullivan, Kathleen E.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Allergy Immunol, Philadelphia, PA 19104 USA Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Perelygina, Ludmila
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Dis Control & Prevent, Div Viral Dis, Atlanta, GA USA Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Eloit, Marc
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pasteur, Pathogen Discovery Lab, Biol Infect Unit, Paris, France Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Neven, Benedicte
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Unite Immunol Hematol & Rhumatol Pediat, Paris, France
Univ Paris 05, Sorbonne Paris Cite, INSERM U116, Paris, France
Univ Paris 05, Sorbonne Paris Cite, Inst Imagine, Paris, France Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Perot, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pasteur, Pathogen Discovery Lab, Biol Infect Unit, Paris, France
Inst Pasteur, Ctr Innovat & Rech Technol Citech, Paris, France Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Moshous, Despina
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Unite Immunol Hematol & Rhumatol Pediat, Paris, France
Univ Paris 05, Sorbonne Paris Cite, INSERM U116, Paris, France
Univ Paris 05, Sorbonne Paris Cite, Inst Imagine, Paris, France Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Suarez, Felipe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Inst Imagine, Paris, France
Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, AP HP,Unite Hematol Adulte,INSERM U116, Paris, France Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

论文数: 引用数:
h-index:
机构:

Bonilla, Francisco A.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Boston, MA USA Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Vaz, Louise E.
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Doernbecher Childrens Hosp, Dept Infect Dis, Portland, OR USA Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Krol, Alfons L.
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Doernbecher Childrens Hosp, Dept Dermatol, Portland, OR USA Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Klein, Christoph
论文数: 0 引用数: 0
h-index: 0
机构:
LMU, Univ Hosp, Dr von Hauner Childrens Hosp, Dept Pediat, Munich, Germany Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Seppanen, Mikko
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Cent Hosp, Childrens Hosp, Rare Dis Ctr, Helsinki, Finland Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Nugent, Diane J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA
Univ Calif Irvine, Dept Pediat, Orange, CA 92668 USA Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Singh, Jasjit
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Irvine, Dept Pediat, Orange, CA 92668 USA
Childrens Hosp Orange Cty, Dept Infect Dis, Orange, CA 92668 USA Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA

Ochs, Hans D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle Childrens Res Inst, Ctr Immun & Immunotherapies, Seattle, WA 98195 USA Childrens Hosp Orange Cty, Dept Pediat Hematol, 1201 W La Veta Ave, Orange, CA 92868 USA
[8]
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
[J].
Carney, JP
;
Maser, RS
;
Olivares, H
;
Davis, EM
;
Le Beau, M
;
Yates, JR
;
Hays, L
;
Morgan, WF
;
Petrini, JHJ
.
CELL,
1998, 93 (03)
:477-486

Carney, JP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Wisconsin, Sch Med, Genet Lab, Madison, WI 53706 USA

Maser, RS
论文数: 0 引用数: 0
h-index: 0
机构: Univ Wisconsin, Sch Med, Genet Lab, Madison, WI 53706 USA

Olivares, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Wisconsin, Sch Med, Genet Lab, Madison, WI 53706 USA

Davis, EM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Wisconsin, Sch Med, Genet Lab, Madison, WI 53706 USA

Le Beau, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Wisconsin, Sch Med, Genet Lab, Madison, WI 53706 USA

Yates, JR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Wisconsin, Sch Med, Genet Lab, Madison, WI 53706 USA

Hays, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Wisconsin, Sch Med, Genet Lab, Madison, WI 53706 USA

Morgan, WF
论文数: 0 引用数: 0
h-index: 0
机构: Univ Wisconsin, Sch Med, Genet Lab, Madison, WI 53706 USA

Petrini, JHJ
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wisconsin, Sch Med, Genet Lab, Madison, WI 53706 USA Univ Wisconsin, Sch Med, Genet Lab, Madison, WI 53706 USA
[9]
Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair
[J].
Casey, Jillian P.
;
Nobbs, Michael
;
McGettigan, Paul
;
Lynch, SallyAnn
;
Ennis, Sean
.
JOURNAL OF MEDICAL GENETICS,
2012, 49 (04)
:242-245

Casey, Jillian P.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Univ Ireland Univ Coll Dublin, Hlth Sci Ctr, Sch Med & Med Sci, Dublin 4, Ireland
Our Ladys Childrens Hosp, Natl Childrens Res Ctr, Dublin, Ireland Natl Univ Ireland Univ Coll Dublin, Hlth Sci Ctr, Sch Med & Med Sci, Dublin 4, Ireland

Nobbs, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Southmead Hosp, Bristol Genet Lab, Bristol, Avon, England Natl Univ Ireland Univ Coll Dublin, Hlth Sci Ctr, Sch Med & Med Sci, Dublin 4, Ireland

McGettigan, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Univ Ireland Univ Coll Dublin, Coll Life Sci, UCD Sch Agr Food Sci & Vet Med, Anim Genom Lab, Dublin 4, Ireland Natl Univ Ireland Univ Coll Dublin, Hlth Sci Ctr, Sch Med & Med Sci, Dublin 4, Ireland

Lynch, SallyAnn
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Childrens Hosp, Natl Ctr Med Genet, Dublin, Ireland Natl Univ Ireland Univ Coll Dublin, Hlth Sci Ctr, Sch Med & Med Sci, Dublin 4, Ireland

Ennis, Sean
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Univ Ireland Univ Coll Dublin, Hlth Sci Ctr, Sch Med & Med Sci, Dublin 4, Ireland
Our Ladys Childrens Hosp, Natl Ctr Med Genet, Dublin, Ireland Natl Univ Ireland Univ Coll Dublin, Hlth Sci Ctr, Sch Med & Med Sci, Dublin 4, Ireland
[10]
Crystal structure of the GINS complex and functional insights into its role in DNA replication
[J].
Chang, Y. Paul
;
Wang, Ganggang
;
Bermudez, Vladimir
;
Hurwitz, Jerard
;
Chen, Xiaojiang S.
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
2007, 104 (31)
:12685-12690

Chang, Y. Paul
论文数: 0 引用数: 0
h-index: 0
机构: Mem Sloan Kettering Canc Ctr, Program Mol Biol, New York, NY 10021 USA

Wang, Ganggang
论文数: 0 引用数: 0
h-index: 0
机构: Mem Sloan Kettering Canc Ctr, Program Mol Biol, New York, NY 10021 USA

Bermudez, Vladimir
论文数: 0 引用数: 0
h-index: 0
机构: Mem Sloan Kettering Canc Ctr, Program Mol Biol, New York, NY 10021 USA

Hurwitz, Jerard
论文数: 0 引用数: 0
h-index: 0
机构: Mem Sloan Kettering Canc Ctr, Program Mol Biol, New York, NY 10021 USA

Chen, Xiaojiang S.
论文数: 0 引用数: 0
h-index: 0
机构: Mem Sloan Kettering Canc Ctr, Program Mol Biol, New York, NY 10021 USA