4 CONCLUSION
The variant in MVK (C.298G>A) is a mutation that can lead
primary immunodeficiency in patients. Autoinflammatory syndromes always
pose diagnostic and therapeutic challenges for therapists. A clinical
description of the variety of periodic fever syndromes is useful in the
evaluation and management of these patients. Our report highlights the
broad clinical phenotype of MVK, and emphasizes the need to consider
early genetic screening for young children presenting with attacks of
fever associated with skin lesions. Effective management of HIDS
involves a multidisciplinary approach in which rheumatologists,
immunologists, and geneticists collaborate to provide comprehensive
care. Moreover, genetic counseling should be provided to affected
individuals and their families to discuss the inheritance pattern and
the potential risk of recurrence in future pregnancies.