A Rare Phenotype of Alpha-1-Antitrypsin Deficiency Owing to PI*IS in a Newborn With Liver Disease

J Pediatr Gastroenterol Nutr. 2017 Nov;65(5):e112-e113. doi: 10.1097/MPG.0000000000001716.

Authors

Alice C Huang¹, Carla Perez, Lina Felipez, Gabriel Chamyan, Milton J Finegold, Erick Hernandez

Affiliation

¹ *Department of Pediatrics, Nicklaus Children's Hospital, Miami, FL †Department of Pediatric Gastroenterology, Baylor College of Medicine, Houston, TX ‡Department of Pediatric Gastroenterology, Nicklaus Children's Hospital §Department of Pediatric Pathology, Nicklaus Children's Hospital, Miami, FL ||Department of Pediatric Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX.

PMID: 28837509
DOI: 10.1097/MPG.0000000000001716

No abstract available

Publication types

Case Reports

MeSH terms

Alleles
Heterozygote
Humans
Infant
Infant, Newborn
Liver / pathology*
Liver Function Tests
Male
Mutation, Missense
Phenotype
alpha 1-Antitrypsin / genetics*
alpha 1-Antitrypsin / metabolism
alpha 1-Antitrypsin Deficiency / diagnosis*
alpha 1-Antitrypsin Deficiency / genetics

Substances

SERPINA1 protein, human
alpha 1-Antitrypsin