603554.1.2

Lebanon

Recurrent pneumonia; Hepatosplenomegaly; Lymphopenia; Abnormal T cell count; B lymphocytopenia; Increased circulating IgM level

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000536.3:c.1375A>C	2		Omenn Syndrome

4th degree cousin of 603554.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
603554.1.1	Lebanon	Lymphopenia; Abnormal T cell count; B lymphocytopenia	Female	Yes	Yes