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Primary immunodeficiency or monogenic inflammatory bowel disease v2.145 NOS2 Ivone Leong Classified gene: NOS2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.145 NOS2 Ivone Leong Added comment: Comment on list classification: Gene was added to panel by Zornitza Stark (Australian Genomics). The gene was given the suggested Red rating based on evidence provided by expert reviewer.

PMID: 31995689 describes a 51 year old man from Iran who had an acute cytomegalovirus (CMV) infection which progressed to CMV disease and later died from it. The researchers found a homozygous variant that causes a frameshift mutation in NOS2 that caused NOS2 deficiency, which might cause the patient to be more susceptible to lethal CMV infection. The patient was otherwise healthy until the CMV infection.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.145 NOS2 Ivone Leong Gene: nos2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.144 NOS2 Ivone Leong Publications for gene: NOS2 were set to 12433515; 31995689
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 NOS2 Zornitza Stark gene: NOS2 was added
gene: NOS2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: NOS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOS2 were set to 12433515; 31995689
Phenotypes for gene: NOS2 were set to {Malaria, resistance to} 611162; Disseminated CMV disease
Review for gene: NOS2 was set to RED
Added comment: Promoter polymorphisms linked to malarial resistance. Single individual reported with homozygous NOS2 LOF variant and disseminated, progressive CMV disease.
Sources: Literature