Clinical and Immunologic Features of a Patient With Homozygous FNIP1 Variant.
J Pediatr Hematol Oncol
; 46(6): e472-e475, 2024 Aug 01.
Article
en En
| MEDLINE
| ID: mdl-38748614
ABSTRACT
Agammaglobulinemia represents the most profound primary antibody deficiency, stemming from early cessation of B-cell development. Deficiency in folliculin-interacting protein 1 (FNIP1) is a novel inborn error of immunity characterized by a severe defect in B-cell development, agammaglobulinemia, variable neutropenia, and hypertrophic cardiomyopathy. FNIP1 plays a critical role in B-cell development and metabolic homeostasis, establishing a metabolic checkpoint that ensures pre-B cells possess sufficient metabolic capacity to undergo division while concurrently limiting lymphogenesis due to abnormal growth. Disruption of FNIP1 functionality affects the fundamental metabolic regulators adenosine monophosphate-activated protein kinase and mTOR, culminating in a severe B-cell deficiency alongside hypogammaglobulinemia, hypertrophic cardiomyopathy, preexcitation syndrome, and intermittent neutropenia. This case report presents an 11-month-old male patient with FNIP1 deficiency who, in addition to classical features, exhibited posterior cerebellar hypoplasia.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Homocigoto
Límite:
Humans
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Infant
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Male
Idioma:
En
Año:
2024
Tipo del documento:
Article