Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.

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作者： Raha,Zamani ^[1] ; Sepideh,Shahkarami ^[2] ; Nima,Rezaei ^[3]

作者单位： Students' Scientific Research Center (SSRC), Tehran University of Medical Sciences, Tehran, Iran. ^[1] Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. ^[2] Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München (LMU), Munich, Germany. ^[3] Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Munich, Germany. ^[4] Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. ^[5] Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. ^[6]

关键词 Chediak–Higashi syndrome Griscelli syndrome type 2 Hermansky–Pudlak syndrome P14 deficiency Vici syndrome differential diagnosis hypopigmentation syndromes inborn errors of immunity primary immunodeficiency

主题词诊断, 鉴别(Diagnosis, Differential);基因检测(Genetic Testing);人类(Humans);色素沉着不足(Hypopigmentation);皮肤色素沉着(Skin Pigmentation)

DOI 10.15586/aei.v49i2.61

PMID 33641308

发布时间 2021-10-18

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