243700.1

Country

Lebanon

HPO Terms

Recurrent otitis media; Recurrent pneumonia; Eczema; Increased circulating IgG level; Increased circulating IgA level; Decreased circulating total IgM; Abnormal proportion of class-switched memory B cells

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_203447.4:c.2248G>T	2		Hyper-IgE Recurrent Infection Syndrome 2, Autosomal Recessive

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Remarks

Patient 'ARH027' in the publication

References

Engelhardt et al. 2015