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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. |
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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 |