Partial albinism and immunodeficiency in patients with Hermansky‐Pudlak Type II: Introducing 2 novel mutations-Reference-Cited by-同舟云学术

Partial albinism and immunodeficiency in patients with Hermansky‐Pudlak Type II: Introducing 2 novel mutations

Published:2020-09-14 Issue:1 Volume:93 Page:
ISSN:0300-9475
Container-title:Scandinavian Journal of Immunology
language:en
Short-container-title:Scand J Immunol

Author:

Alizadeh Zahra¹,Nabilou Susan¹,Mazinani Marzieh¹,Tajik Shaghayegh¹,Hamidieh Amir Ali²,Houshmand Masoud³,Fazlollahi Mohammad Reza¹^ORCID,Pourpak Zahra¹

Affiliation:

1. Immunology, Asthma & Allergy Research Institute Tehran University of Medical Sciences Tehran Iran

2. Pediatric Stem Cell Transplant Department Children's Medical Center Tehran University of Medical Sciences Tehran Iran

3. Department of Medical Genetics National Institute of Genetic Engineering and Biotechnology (NIGEB) Tehran Iran

Publisher

Wiley

Subject

Immunology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/sji.12966

Reference12 articles.

1. Albinism Associated with Hemorrhagic Diathesis and Unusual Pigmented Reticular Cells in the Bone Marrow: Report of Two Cases with Histochemical Studies

2. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

3. Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood

4. AP-3: an adaptor-like protein complex with ubiquitous expression

5. Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor

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