Impaired IFN-γ-mediated innate and adaptive immunity in Coffin-Siris syndrome type 2: immunological insights from a patient with a recurrent ARID1A mutation - Scorecard - MDSpire
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Impaired IFN-γ-mediated innate and adaptive immunity in Coffin-Siris syndrome type 2: immunological insights from a patient with a recurrent ARID1A mutation
Clinical Scorecard: Deficient IFN-γ-Driven Innate and Adaptive Immune Responses in Coffin-Siris Syndrome Type 2: Immunological Findings from a Patient with a Recurring ARID1A Mutation
At a Glance
Category
Detail
Condition
Coffin-Siris Syndrome Type 2 (CSS2)
Key Mechanisms
Impaired IFN-γ-mediated immunity due to ARID1A mutations
Target Population
Patients with ARID1A mutations presenting with recurrent infections
Care Setting
Clinical immunology and genetic testing
Key Highlights
CSS2 is associated with neurodevelopmental delay and recurrent infections.
The ARID1A p.Ala1077Glu variant leads to significant immune deficits.
Marked reductions in NKT-like cells and CD8+ central memory T cells were observed.
Pathway analysis indicated suppression of IFN-γ signaling processes.
The findings suggest a potential link between ARID1A mutations and immune dysfunction.
Guideline-Based Recommendations
Diagnosis
Confirm ARID1A mutations through genetic testing.
Assess immune status via serum immunoglobulins and flow cytometry.
Management
Monitor for recurrent infections and consider immunological support.
Monitoring & Follow-up
Regular immune profiling to assess immune function.
Risks
Increased susceptibility to infections due to impaired immune responses.
Patient & Prescribing Data
Individuals diagnosed with Coffin-Siris syndrome type 2 carrying ARID1A mutations.
Further investigation of IFN-γ pathway as a therapeutic target is warranted.
Clinical Best Practices
Utilize comprehensive immune analysis for patients with CSS2.
Implement genetic counseling for families with ARID1A mutations.
