Expanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection.
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
31 Aug 2024
31 Aug 2024
Historique:
received:
18
07
2024
accepted:
20
08
2024
medline:
1
9
2024
pubmed:
1
9
2024
entrez:
31
8
2024
Statut:
epublish
Résumé
Autosomal recessive agammaglobulinemia is a severe primary antibody deficiency disorder typically presenting in infancy. We present a rare case of an 8-year-old boy with AR agammaglobulinemia due to a homozygous splice site variant (c.499-1G > A) in the CD79A gene. Despite monthly intravenous immunoglobulin replacement and prophylactic antibiotics, he developed refractory Helicobacter bilis leg ulcers. Helicobacter species are known for extracellular colonization and are challenging to culture, necessitating molecular diagnostics for identification. The patient required prolonged treatment with intravenous meropenem followed by oral metronidazole and doxycycline for resolution of the ulcers over two years. The patient also exhibited persistent asymptomatic thrombocytopenia, an atypical finding in CD79A mutation cases. This case underscores the importance of genetic diagnosis and targeted antimicrobial therapy in managing rare infections associated with primary immunodeficiencies like autosomal recessive agammaglobulinemia due to CD79A mutation.
Identifiants
pubmed: 39215847
doi: 10.1007/s10875-024-01792-9
pii: 10.1007/s10875-024-01792-9
doi:
Substances chimiques
CD79 Antigens
0
Anti-Bacterial Agents
0
Immunoglobulins, Intravenous
0
Types de publication
Case Reports
Journal Article
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
187Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
Références
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