300400.1

Country

United Arab Emirates

HPO Terms

tender; hepatosplenomegaly; scarring; cough; lymphopenia; granuloma
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Sex

Male

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000206.2:c.820_823dup1

Remarks

The patient exhibited an aggressive lymphohistiocytic proliferation reaction due to BCG vaccine. De novo mutation.
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