Hemophagocytic syndrome (HPS) is described by an increase in macrophages accountable for extensive phagocytosis of hematopoietic cells. Secondary HPS arises commonly in the presence of infections, neoplasia, autoimmune disorders and immune disorders.
Here we present 2 cases with IKBKB and RAG2 deficiency that were developed hemophagocytic syndrome.
Next-generation sequencing of 200 genes associated with primary immunodeficiency identified homozygous mutations IKBKB and RAG2.
Case 1. An 8-mounth-old male patient had followed with primary immune deficiency. He was referred to our department with fever not responding to antibiotic treatment for 10 days and hepatosplenomegaly. We found IKBKB homozygous mutation. His father, mother and his brother have also heterozygous IKBKB mutation.
Case 2. A 12-year-old male patient presented hepatomegaly, fever with unresponsive to antibiotic treatment and elevated liver enzymes. The patient was admitted three times with HPS attack. A leaky SCID was diagnosed with RAG2 homozygous mutation.
We reported here hemophagocytic syndrome with IKBKB and RAG2 mutations the first time.
In our cases, we think that HFS developed due to environmental factors with primary immunodeficiency.