An 18-year-old woman with pulmonary nodules found to have cytotoxic T-lymphocyte-associated antigen 4 deficiency.
Abatacept
/ therapeutic use
Abdominal Pain
/ etiology
Adolescent
CTLA-4 Antigen
/ deficiency
Diagnosis, Differential
Female
Gastrointestinal Hemorrhage
/ etiology
Humans
Immunosuppressive Agents
/ therapeutic use
Multiple Pulmonary Nodules
/ diagnostic imaging
Sirolimus
/ therapeutic use
Treatment Outcome
immunology
respiratory medicine
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
08 Dec 2019
08 Dec 2019
Historique:
entrez:
11
12
2019
pubmed:
11
12
2019
medline:
8
5
2020
Statut:
epublish
Résumé
An 18-year-old woman was admitted with abdominal pain and hematochezia. She was previously healthy until 15 years of age and was subsequently diagnosed with hypogammaglobulinemia, protein-losing enteropathy, a benign temporal lobe brain lesion/orbital fibroadenoma, autoimmune hepatitis, iron deficiency anaemia and hypothyroidism. She developed respiratory distress and hypoxemia. She was found to have nodules on chest CT scan. She was diagnosed with cytotoxic T-lymphocyte-associated antigen 4 deficiency via genetic testing.
Identifiants
pubmed: 31818888
pii: 12/12/e231600
doi: 10.1136/bcr-2019-231600
pmc: PMC6904162
pii:
doi:
Substances chimiques
CTLA-4 Antigen
0
CTLA4 protein, human
0
Immunosuppressive Agents
0
Abatacept
7D0YB67S97
Sirolimus
W36ZG6FT64
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NHLBI NIH HHS
ID : T32 HL072748
Pays : United States
Informations de copyright
© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
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