Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient

Journal article

Open access

Peer reviewed

Fahad Alsohime, Talal Almaghamsi, Talal A Basha, Hosam Alardati, Malak Alghamdi and Yousef Mohammed Hawsawi

Journal of clinical immunology, Vol.41(1), pp.217-220

01/01/2021

PMID: 32986178

Abstract

Biomarkers

DNA Mutational Analysis

Fatal Outcome

Female

Genetic Association Studies - methods

Genetic Predisposition to Disease

Homozygote

Humans

Immunohistochemistry

Lung Diseases - diagnosis

Lung Diseases - genetics

Mutation

Perforin - genetics

Phenotype

Symptom Assessment

Tomography, X-Ray Computed

url

https://doi.org/10.1007/s10875-020-00870-yView

Published (Version of record) Open

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Title: Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient
Creators - without role: Fahad Alsohime - King Khalid University Hospital
Talal Almaghamsi - King Faisal Specialist Hospital & Research Centre
Talal A Basha - Jeddah University
Hosam Alardati - King Faisal Specialist Hospital & Research Centre
Malak Alghamdi - King Saud University
Yousef Mohammed Hawsawi - King Faisal Specialist Hospital & Research Centre
Publication Details: Journal of clinical immunology, Vol.41(1), pp.217-220
Identifiers: 9933508808331
Academic Unit: University of Jeddah; King Saud University
Language: English
Resource Type: Journal article