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300400.1
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Subject Details
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 Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000206.2:c.820_823dup
1
Severe Combined Immunodeficiency, X-Linked
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Remarks
The patient exhibited an aggressive lymphohistiocytic proliferation reaction due to BCG vaccine. De novo mutation.
References
Yahya et al. 2021
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