Class II Transactivator Gene (CIITA) Variants Associated with Bare Lymphocyte Syndrome II in a Female Sudanese Patient
Further bioinformatics, immunological and clinical workups supported a pathogenic effect of both mutations affecting the function of CIITA protein, and suggesting a compound heterozygote mutation. The patient was started on prophylactic antibiotics and regular intravenous immunoglobulin replacement therapy. The prognosis of this disease is poor in most of the cases, with only a few reported cases surviving until adulthood.
Authors
- Nahla H. Erwa
- Abdelrahman H. Abdelmoneim (ORCID: https://orcid.org/0000-0002-5037-8488)
- Hiba Awadelkareem Osman Fadl (ORCID: https://orcid.org/0000-0002-3614-1994)
- Brigitte Glanzmann (ORCID: https://orcid.org/0000-0002-8318-919X)
- Alamin Mustafa (ORCID: https://orcid.org/0000-0003-1129-6284)
- Thuraya Mohamed Elshiekh Gasim
- Manasik Abdalla Babiker Osman
- Monzir Ahmed Hassan Osman
- Omaima Salih
Institutions
- South African Medical Research Council (ZA)
- University of Khartoum (SD)
- Al-Neelain University (SD)
- Omdurman Islamic University (SD)
- Saudi Commission for Health Specialties (SA)
- University of Bahri (SD)
- Hospital for Tropical Diseases (VN)
Publication Details
- Journal
- The Application of Clinical Genetics
- Published
- 2024-09-01
- DOI
- https://doi.org/10.2147/tacg.s472788
- Citations
- 1
- Primary Topic
- Chronic Lymphocytic Leukemia Research
- Type
- article
- Field-Weighted Citation Impact
- 0.44