Case Reports

. 2021 Jan;41(1):217-220.

doi: 10.1007/s10875-020-00870-y. Epub 2020 Sep 28.

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

Fahad Alsohime¹, Talal Almaghamsi², Talal A Basha³, Hosam Alardati⁴, Malak Alghamdi⁵, Yousef Mohammed Hawsawi^{6

7

8}

Affiliations

¹ Pediatric Intensive Care Unit, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, PO Box: 7805, Pediatric number 39, Riyadh, 11472, Saudi Arabia. falsohime@ksu.edu.sa.
² Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
³ Pediatric Allergy-Immunology, Pediatric Department, Faculty of Medicine, University of Jeddah, Jeddah, Kingdom of Saudi Arabia.
⁴ Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
⁵ Pediatric Genetics and Metabolic Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
⁶ Research Center, King Faisal Specialist Hospital and Research Center, P.O. Box 40047, Jeddah, 21499, Kingdom of Saudi Arabia.
⁷ College of Medicine, Al-Faisal University, P.O. Box 50927, Riyadh, 11533, Saudi Arabia.
⁸ Saudi Human Genome Program-Jeddah Satellite Laboratory, Research Center, King Faisal Specialist Hospital and Research Center, P.O. Box 40047, Jeddah, 21499, Kingdom of Saudi Arabia.

PMID: 32986178
PMCID: PMC7521190
DOI: 10.1007/s10875-020-00870-y

Case Reports

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

Fahad Alsohime et al. J Clin Immunol. 2021 Jan.

. 2021 Jan;41(1):217-220.

doi: 10.1007/s10875-020-00870-y. Epub 2020 Sep 28.

Authors

Fahad Alsohime¹, Talal Almaghamsi², Talal A Basha³, Hosam Alardati⁴, Malak Alghamdi⁵, Yousef Mohammed Hawsawi^{6

7

8}

Affiliations

¹ Pediatric Intensive Care Unit, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, PO Box: 7805, Pediatric number 39, Riyadh, 11472, Saudi Arabia. falsohime@ksu.edu.sa.
² Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
³ Pediatric Allergy-Immunology, Pediatric Department, Faculty of Medicine, University of Jeddah, Jeddah, Kingdom of Saudi Arabia.
⁴ Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
⁵ Pediatric Genetics and Metabolic Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
⁶ Research Center, King Faisal Specialist Hospital and Research Center, P.O. Box 40047, Jeddah, 21499, Kingdom of Saudi Arabia.
⁷ College of Medicine, Al-Faisal University, P.O. Box 50927, Riyadh, 11533, Saudi Arabia.
⁸ Saudi Human Genome Program-Jeddah Satellite Laboratory, Research Center, King Faisal Specialist Hospital and Research Center, P.O. Box 40047, Jeddah, 21499, Kingdom of Saudi Arabia.

PMID: 32986178
PMCID: PMC7521190
DOI: 10.1007/s10875-020-00870-y

No abstract available

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

**Fig. 1**
a Axial chest computed tomography scan in the lung window demonstrates extensive bilateral asymmetric areas of peripheral air space consolidation with associated air bronchograms and b CT scan showed interval development of scattered bilateral thin-walled cysts, with no lobe predominance

**Fig. 2**
There is diffuse interstitial lymphocytic infiltrate of small lymphocytes with widening of the alveolar septa and hyperplasia of type 2 pneumocytes. The inflammatory infiltrate also includes macrophages and few neutrophils. (hematoxylin and eosin stain; 400x magnification)

See this image and copyright information in PMC

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

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

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