Transient immune deficiency accompanied with homozygous CBL rare variant.
CBL
immunodeficiency
transient
Journal
Pediatrics international : official journal of the Japan Pediatric Society
ISSN: 1442-200X
Titre abrégé: Pediatr Int
Pays: Australia
ID NLM: 100886002
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
revised:
08
12
2022
received:
21
11
2022
accepted:
09
12
2022
medline:
18
4
2023
pubmed:
11
12
2022
entrez:
10
12
2022
Statut:
ppublish
Résumé
A critical role in cellular proliferation is played by Casitas B-lineage Lymphoma proto-oncogene (CBL). Germline heterozygous CBL variants give rise to CBL syndrome, which is phenotypically similar to RASopathy. Somatic mutations in CBL have been reported in patients with juvenile myelomonocytic leukemia (JMML). Exome analysis was performed in a patient with immunodeficiency who developed Pneumocystis jirovecii pneumonia. Exome analysis identified a homozygous CBL missense variant. Cell biological analysis of this CBL variant confirmed attenuated function. Spontaneous regression of hematological proliferation has been observed in patients with CBL-mutated JMML and in patients with CBL syndrome. Intriguingly, immunological impairment was spontaneously ameliorated by aging in this patient.
Sections du résumé
BACKGROUND
BACKGROUND
A critical role in cellular proliferation is played by Casitas B-lineage Lymphoma proto-oncogene (CBL). Germline heterozygous CBL variants give rise to CBL syndrome, which is phenotypically similar to RASopathy. Somatic mutations in CBL have been reported in patients with juvenile myelomonocytic leukemia (JMML).
METHODS
METHODS
Exome analysis was performed in a patient with immunodeficiency who developed Pneumocystis jirovecii pneumonia.
RESULTS
RESULTS
Exome analysis identified a homozygous CBL missense variant. Cell biological analysis of this CBL variant confirmed attenuated function.
CONCLUSION
CONCLUSIONS
Spontaneous regression of hematological proliferation has been observed in patients with CBL-mutated JMML and in patients with CBL syndrome. Intriguingly, immunological impairment was spontaneously ameliorated by aging in this patient.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e15439Subventions
Organisme : Japan Agency for Medical Research and Development
ID : 11AA400137
Organisme : Japan Agency for Medical Research and Development
ID : 11AA400143
Informations de copyright
© 2022 Japan Pediatric Society.
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