Hematologic Manifestations of Deficiency of Adenosine Deaminase 2 (DADA2) and Response to Tumor Necrosis Factor Inhibition in DADA2-Associated Bone Marrow Failure.

作者信息

Michniacki Thomas F, Hannibal Mark, Ross Charles W, Frame David G, DuVall Adam S, Khoriaty Rami, Vander Lugt Mark T, Walkovich Kelly J

机构信息

Pediatrics and Communicable Diseases, Pediatric Hematology/Oncology, University of Michigan, 1500 E. Medical Center Drive, D4202 Medical Professional Building, Ann Arbor, MI, 48109, USA.

Pediatrics - Genetics, University of Michigan, Ann Arbor, MI, USA.

出版信息

J Clin Immunol. 2018 Feb;38(2):166-173. doi: 10.1007/s10875-018-0480-4. Epub 2018 Feb 6.

DOI:10.1007/s10875-018-0480-4

PMID:29411230

Abstract

摘要

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本文引用的文献

[1]

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.

Blood. 2017-12-14

[2]

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.

Pediatr Rheumatol Online J. 2017-8-22

[3]

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

Ann Rheum Dis. 2017-5-18

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Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.

Rheumatol Int. 2017-5-17

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Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.

Arthritis Rheumatol. 2017-7-5

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Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2.

J Pediatr Hematol Oncol. 2017-7

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Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.

Neuropediatrics. 2017-4

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Monogenic polyarteritis: the lesson of ADA2 deficiency.

Pediatr Rheumatol Online J. 2016-9-8

[9]

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

J Pediatr. 2016-10

[10]

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters.

RMD Open. 2016-5-16

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Hematologic Manifestations of Deficiency of Adenosine Deaminase 2 (DADA2) and Response to Tumor Necrosis Factor Inhibition in DADA2-Associated Bone Marrow Failure.

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