Karabağ Çıtlak H., Türkyılmaz A., Kendirci N., Kot H., Koç F. S. M., Gayretli Aydın Z. G., ...More

20th Biennial Meeting of The European Society For Immunodeficiencies, Gothenburg, Sweden, 12 - 15 November 2022, pp.681-683

  • Publication Type: Conference Paper / Summary Text
  • City: Gothenburg
  • Country: Sweden
  • Page Numbers: pp.681-683
  • Karadeniz Technical University Affiliated: Yes


Background and Aims: ICF syndrome is a rare autosomal recessive heterogeneous disease characterized by

immunodeficiency, centromeric instability and facial anomalies. Here, we present a case of ICF1 syndrome diagnosed

following Covid 19 infection.

Methods: An 8-year-old girl referred for immunologic evaluation after a two-week period of intravenous

681ypogammag treatment with no significant improvement due to lung infection and diarrhea following Covid 19

infection. Her history revealed repetitive hospitalization due to lung infections and diarrhea since the neonatal period.

Her parents were cousins and she had a history of two siblings death. Her body weight was 20 kg (3-10p) and height

was 119 cm (3-10p). She had a narrow, elongated face, flat nasal bridge, low-set ears, micrognathia and mild mental

retardation.(Fig.1).Computed tomography of the thorax showed bronchiectasis in both lungs and a ground-glass

appearance. Laboratory examinations revealed normal range of B, T, NK cell counts and percentages in lymphocyte

subgroups in addition to 681ypogammaglobulinemia. Specific antibody responses were low. Whole exome sequencing

detected a predefined mutation in the DNMT3B gene (c.1721G>A p.R574Q)and the patient was diagnosed with ICF.

The genetic findings were then confirmed by karyotype analysis on peripheral blood. In the cytogenetic analysis;

instability was observed in the 1st and 16th chromosomes( Fig. 2).

Results: Our case is the first ICF1 patient diagnosed following Covid 19 infection.

Conclusions: Combined immun deficiencies should be considered in syndromic paitiens with frequent and sustained