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147060.1
Home
Subject Details
Country
Lebanon
HPO Terms
Abnormal circulating IgE level; Eczema; Cutaneous abscess ; Recurrent otitis media; Pneumonia; Pulmonary pneumatocele; Scoliosis; Persistence of primary teeth
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Sex
Female
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_139276.3:c.1384_1386GTG[1]
1
Hyper-IgE Recurrent Infection Syndrome 1, Autosomal Dominant
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Remarks
de novo mutation
References
Jiao et al, 2008
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