A5035598267- Immunodeficiency and Autoimmune Disorders
- Streptococcal Infections and Treatments
- Kawasaki Disease and Coronary Complications
- Immune Cell Function and Interaction
- CAR-T cell therapy research
- Full-Duplex Wireless Communications
Ankara University
2024
Ege University
2019
Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) recently linked to combined immunodeficiency. However, the extent defects T innate lymphoid cells (ILCs) remain unexplored. Herein, we characterized primary T, natural killer (NK) helper ILCs six patients carrying two novel loss mutation DIAPH1 Jurkat after knockdown. Mutations were identified by whole exome sequencing. T-cell...
Kawasaki disease (KD), also known as mucocutaneous lymph node syndrome and infantile polyarteritis nodosa, is to present in multiple ways. Although inflammatory changes several systems have been reported KD, there are few documented child patients presenting with parotitis. We report such a case five-year-old.