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Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder, caused by mutation in the NBS1 gene on chromosome 8q21. The hallmark symptom is microcephaly, other characteristic features are facial phenotype, growth retardation, premature ovarian failure in girls. Psychomotor development is usually not disturbed. Impaired cellular and humoral immunity is essential feature of syndrome. Patients with NBS have an extremely high risk for developing malignancy.

Juvenile idiopathic arthritis in a child with nijmegen breakage syndrome