A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review - Scorecard - MDSpire
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A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review
Clinical Scorecard: Identification of a new compound heterozygous variant in the NBAS gene associated with HLH and multisystem manifestations: a review of clinical implications and literature
At a Glance
Category
Detail
Condition
Key Mechanisms
Involvement of NBAS protein in nonsense-mediated decay and Golgi-to-ER retrograde transport (source needed).
Target Population
Care Setting
Key Highlights
Novel compound heterozygous variants in the NBAS gene identified in a patient (source needed).
Clinical manifestations include HLH, short stature, and ILFS-2 (source needed).
Pancytopenia and HLH may indicate severe immune dysregulation (remove unless sourced).
Genotype-phenotype correlations expanded through review of 322 patients (source needed).
HLH associated with rapid clinical deterioration and high mortality risk (remove unless sourced).
Guideline-Based Recommendations
Diagnosis
Genetic testing for biallelic variants in the NBAS gene (source needed).
Management
Timely intervention for HLH and associated complications (remove unless sourced).
Monitoring & Follow-up
Regular assessment of hematologic parameters and immune function (source needed).
Risks
High risk of mortality associated with HLH in NBAS deficiency (remove unless sourced).
Patient & Prescribing Data
Pediatric patients with NBAS variants
Focus on managing HLH and associated multisystem manifestations
Clinical Best Practices
Early recognition of HLH in patients with NBAS deficiency (remove unless sourced).
Comprehensive genetic and functional analysis of identified variants (source needed).
Multidisciplinary approach for managing complex clinical presentations (remove unless sourced).
