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DNA repair defect other than combined T-cell and B-cell immunodeficiencies

MedGen UID:
1843263
•Concept ID:
C5680459
•
Disease or Syndrome
Orphanet: ORPHA169346

Recent clinical studies

Etiology

How immunodeficiency can lead to malignancy.
Pai SY, Lurain K, Yarchoan R
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):287-295. doi: 10.1182/hematology.2021000261. PMID: 34889385Free PMC Article
Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola AB, Reid B, Sirror R, Brager R, Dent P, Chakroborty P, Bulman DE, Roifman CM
Front Immunol 2019;10:2940. Epub 2019 Dec 20 doi: 10.3389/fimmu.2019.02940. PMID: 31921190Free PMC Article
Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation.
Gładkowska-Dura M, Dzierzanowska-Fangrat K, Dura WT, van Krieken JH, Chrzanowska KH, van Dongen JJ, Langerak AW
J Pathol 2008 Nov;216(3):337-44. doi: 10.1002/path.2418. PMID: 18788073
A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency.
Nicolas N, Moshous D, Cavazzana-Calvo M, Papadopoulo D, de Chasseval R, Le Deist F, Fischer A, de Villartay JP
J Exp Med 1998 Aug 17;188(4):627-34. doi: 10.1084/jem.188.4.627. PMID: 9705945Free PMC Article

Diagnosis

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola AB, Reid B, Sirror R, Brager R, Dent P, Chakroborty P, Bulman DE, Roifman CM
Front Immunol 2019;10:2940. Epub 2019 Dec 20 doi: 10.3389/fimmu.2019.02940. PMID: 31921190Free PMC Article
Primary/Congenital Immunodeficiency: 2015 SH/EAHP Workshop Report-Part 5.
Gratzinger D, Jaffe ES, Chadburn A, Chan JK, de Jong D, Goodlad JR, Said J, Natkunam Y
Am J Clin Pathol 2017 Feb 1;147(2):204-216. doi: 10.1093/ajcp/aqw215. PMID: 28395106Free PMC Article
Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation.
Gładkowska-Dura M, Dzierzanowska-Fangrat K, Dura WT, van Krieken JH, Chrzanowska KH, van Dongen JJ, Langerak AW
J Pathol 2008 Nov;216(3):337-44. doi: 10.1002/path.2418. PMID: 18788073
A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency.
Nicolas N, Moshous D, Cavazzana-Calvo M, Papadopoulo D, de Chasseval R, Le Deist F, Fischer A, de Villartay JP
J Exp Med 1998 Aug 17;188(4):627-34. doi: 10.1084/jem.188.4.627. PMID: 9705945Free PMC Article

Therapy

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola AB, Reid B, Sirror R, Brager R, Dent P, Chakroborty P, Bulman DE, Roifman CM
Front Immunol 2019;10:2940. Epub 2019 Dec 20 doi: 10.3389/fimmu.2019.02940. PMID: 31921190Free PMC Article

Clinical prediction guides

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola AB, Reid B, Sirror R, Brager R, Dent P, Chakroborty P, Bulman DE, Roifman CM
Front Immunol 2019;10:2940. Epub 2019 Dec 20 doi: 10.3389/fimmu.2019.02940. PMID: 31921190Free PMC Article

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