614700.1.1

Country

Lebanon

HPO Terms

Tooth abscess ; Recurrent otitis media ; Hearing impairment ; Lymphadenopathy ; Hepatosplenomegaly ; Failure to thrive ; Thrombocytopenia ; Arthralgia ; Decreased circulating antibody level ; Hypersplenism

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001199282.2:c.2963del	2		Immunodeficiency, Common Variable, 8, with Autoimmunity

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References

Alkhairy et al. 2016