Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.

BACKGROUND

Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome, commonly known as ICF syndrome, is a rare multisystem autosomal recessive disorder. ICF syndrome is primarily classified into five subtypes: ICF1, ICF2, ICF3, ICF4, and ICFX. Among these, the ICF2 subtype is mainly caused by pathogenic variant in the ZBTB24.

CASE PRESENTATION: A 28-year-old female patient was admitted to our hospital presenting with fever and shock. Despite aggressive antimicrobial therapy, the patient continued to experience repeated episodes of infectious shock following admission for sepsis. This abnormality drew the doctors' attention and sparked in-depth discussion and analysis. With the discovery of abnormalities in the patient's immune cells, we became even more convinced that the underlying cause might be a genetic pathogenic variant in the patient. Ultimately, after conducting whole exome sequencing, we identified a homozygous pathogenic variant in the ZBTB24 (chr6:109476256 G>A, NM_014797.3: c.1123C>T, p.Gln375*) in the patient.

RESULT: Based on literature review, we implemented a treatment regimen of gamma globulin (10 g/day) combined with antibiotics for the patient. Our efforts ultimately proved successful: the patient recovered fully and was discharged from the hospital. During the one-year follow-up, the patient remained in good condition.

CONCLUSION

The therapeutic regimen of gamma globulin combined with antibiotics has demonstrated beneficial effects in the treatment of our reported patient.