March 3, 2026Open Access

Expanding the clinical and immunological phenotypes of COPB1 deficiency

Key Points

Combined immunodeficiency is a significant outcome of COPB1 deficiency, characterized by neutropenia and lymphopenia.
Specific antibody responses are impaired in individuals with COPB1 mutations, indicating a crucial area for intervention.
Comprehensive immunological evaluation provides insights essential for early treatment and immunoglobulin replacement therapy.
The classification of COPB1 deficiency as a syndromic combined immunodeficiency reinforces the need for targeted clinical strategies.

Abstract

Our findings expand the clinical and immunological spectrum of COPB1 deficiency, demonstrating combined immunodeficiency with neutropenia, lymphopenia and impaired specific antibody responses. These results support the classification of COPB1 deficiency as a combined immunodeficiency with syndromic features under the IUIS classification system and emphasize the importance of comprehensive immunological evaluation and early immunoglobulin replacement therapy in patients with COPB1 mutations.

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Authors

Fayhan Alroqi

Thekra Algholaiqa

Sulaiman Alajaji

Journals

Frontiers in Immunology

Actions

Institutions

King Saud bin Abdulaziz University for Health Sciences

King Abdulaziz Medical City

National Guard Health Affairs

References and Citations

Connected Papers

Building similarity graph...

Analyzing shared references across papers

Expanding the clinical and immunological phenotypes of COPB1 deficiency

Key Points

Abstract

Citation Network

Connected Papers

Discussion

Authors

Journals

Actions

Institutions

References and Citations

Citation Network

Connected Papers

Discussion

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