613796.3

Saudi Arabia

Recurrent mycobacterial infections; Death in infancy

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_007315.4:c.1760_1761del	2		Immunodeficiency 31B

Patient had 2 similarly affected older sisters that were deceased

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613796.9	Saudi Arabia	Recurrent mycobacterial infections; Recurrent viral infections; Recurrent fungal infections; Death in infancy	Female	Yes	Yes	Patient had a similarly affected older brother who was deceased