Recent advances in understanding the pathogenesis and management of reticular dysgenesis

被引：22

作者：

Hoenig, Manfred ^{[1
]}

Pannicke, Ulrich ^{[2
,3
]}

Gaspar, Hubert B. ^{[4
,5
]}

Schwarz, Klaus ^{[2
,3
]}

机构：

[1] Univ Med Ctr Ulm, Dept Paediat, Eythstr 24, D-89075 Ulm, Germany

[2] Univ Ulm, Inst Transfus Med, Ulm, Germany

[3] German Red Cross Blood Serv Baden Wuerttemberg, Inst Clin Transfus Med & Immunogenet Ulm, Hessen, Germany

[4] UCL Great Ormond St Inst Child Hlth, London, England

[5] Great Ormond St Hosp Sick Children, London, England

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2018年 / 180卷 / 05期

关键词：

neutropenia; lymphopenia; immunodeficiency; myeloablation; conditioning; ADENYLATE KINASE 2; SEVERE COMBINED IMMUNODEFICIENCY; BONE-MARROW-TRANSPLANTATION; TRANSFER-RNA SYNTHETASE; DROSOPHILA-MELANOGASTER; HEARING-LOSS; INNER-EAR; SENSORINEURAL DEAFNESS; THYMIC ALYMPHOPLASIA; MITOCHONDRIAL IMPORT;

D O I：

10.1111/bjh.15045

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Reticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immunodeficiency (SCID) with agranulocytosis and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 (AK2) were identified to cause this phenotype. In this review, we will demonstrate important clinical differences between reticular dysgenesis and other SCID entities and summarize recent concepts in the understanding of the pathophysiology of the disease and the management strategies for this difficult condition.

引用

页码：644 / 653

页数：10

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