147060.2

Lebanon

Abnormal circulating IgE level; Eczema; Cutaneous abscess; Recurrent otitis media; Pneumonia; Pulmonary pneumatocele; Pectus excavatum;

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003150.3:c.1909G>A	1		Hyper-IgE Recurrent Infection Syndrome 1, Autosomal Dominant

de novo mutation