Genotype–phenotype correlations in specific granule deficiency: loss of DNA-binding ability and impaired nuclear localization cause severe manifestations due to the c.655_665del <i>CEBPE</i> variant
Based on these functional differences, we propose a novel classification of SGD-1 into types 1a and 1b (SGD-1a and -1b). Patients with SGD-1b,-associated with nonsense and frameshift variants, such as del11,-exhibit more severe clinical phenotypes than those with SGD-1a,-associated with missense variants and in-frame deletions. This study offers novel insights into the pathogenesis of SGD and genotype-phenotype correlations, potentially informing the development of future therapeutic strategies.
Authors
- Atsushi Ueda (ORCID: https://orcid.org/0000-0002-6596-4770)
- Hirokazu Kanegane (ORCID: https://orcid.org/0000-0002-8696-9378)
- Aaqib Zaffar Banday (ORCID: https://orcid.org/0000-0001-5486-4267)
- Yutaka Maruoka
- Tadayuki Akagi (ORCID: https://orcid.org/0000-0002-1733-9452)
- Syed Bukhari (ORCID: https://orcid.org/0000-0002-0244-3716)
- T. Tamaru
- Taizo Wada (ORCID: https://orcid.org/0000-0002-6146-6379)
- Rina Katayama
- Juna Momokino
Institutions
- Fukuoka Institute of Technology (JP)
- Kanazawa University (JP)
- Tokyo Medical and Dental University (JP)
- Tokai University (JP)
- Government Medical College (IN)
Publication Details
- Journal
- Clinical & Experimental Immunology
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1093/cei/uxaf045
- Citations
- 1
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.80