Özet:

Severe congenital neutropenia (SCN) is a primary immune deficiency disease characterized by a rare deficiency of mature neutrophils. Clinical features include recurrent and life-threatening infections and a reduced absolute neutrophil count from birth. There is also an increased risk of myelodysplastic syndrome and acute myeloblastic leukemia. A four-year-old girl has recurrent oral aft, tonsillopharyngitis, soft tissue, and lung infections. Due to the complaints of the patient, she was hospitalized several times, once in intensive care. She needed intravenous or oral antibiotics about 15 times a year due to recurrent infections. The patient applied to our clinic with fever, fatigue, swelling, and redness in the frontal region. In her history has the patient was administered drainage and antibiotic therapy one year ago due to an abscess in the frontal region. There was a kinship between the parents. There were no individuals with similar complaints in the family. In our patient’s genetic analysis, there was a homozygous mutation in the HAX1 (HCLS1-associated protein X-1) gene, and SCN type 3 was diagnosed. The heterozygous same mutation was present in the mother and father. We reported this case to emphasize that Kostmann Syndrome as a rare disease in children with recurrent infections and neutropenia.

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