GATA2 deficiency of a novel missense variant with multiorgan inflammation-Reference-Cited by-同舟云学术

GATA2 deficiency of a novel missense variant with multiorgan inflammation

Published:2024-01-30 Issue:8 Volume:63 Page:e226-e228
ISSN:1462-0324
Container-title:Rheumatology
language:en
Short-container-title:

Author:

Baba Hiroyuki¹^ORCID,Kimura Naoki¹^ORCID,Kanegane Hirokazu²^ORCID,Miya Fuyuki³,Kosaki Kenjiro³,Morio Tomohiro⁴^ORCID,Koike Ryuji¹

Affiliation:

1. Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU) , Tokyo, Japan

2. Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU) , Tokyo, Japan

3. Center for Medical Genetics, Keio University School of Medicine , Tokyo, Japan

4. Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU) , Tokyo, Japan

Funder

Initiative on Rare and Undiagnosed Diseases

Japan Agency for Medical Research and Development

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/rheumatology/advance-article-pdf/doi/10.1093/rheumatology/keae062/56664042/keae062.pdf

Reference7 articles.

1. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity;Spinner;Blood,2014

2. Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients;Donadieu;Haematologica,2018

3. CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores;Rentzsch;Genome Med,2021

4. PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations;Zhang;Bioinformatics,2018

5. Comparison of outcomes of myeloablative allogeneic stem cell transplantation for pediatric patients with bone marrow failure, myelodysplastic syndrome and acute myeloid leukemia with and without germline GATA2 mutations;Hofmann;Biol Blood Marrow Transplant,2020