Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: TIRAP

Red List (low evidence)

Incomplete penetrance

Created: 11 Jun 2018, 12:40 p.m.

Publications

• 28235196

Red List (low evidence)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TIRAP .PanelApp HGNC gene symbol check: TIRAP . IUIS Disease: TIRAP deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Lymphocytes + Granulocytes+ Monocytes. IUIS Associated features: Staphylococcal disease during childhood. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: TLR Signaling Pathway Deficiency with Bacterial Susceptibility

Created: 2 Jul 2018, 10:35 a.m.

External expert review notes Red status and Incomplete penetrance , so I have kept this gene Red on this panel until further evidence

Created: 13 Jun 2018, 10:14 a.m.

Comment on publications: Added publications suggested from external expert review

Created: 13 Jun 2018, 10:14 a.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: TIRAP, PanelApp HGNC gene symbol check: TIRAP, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Defects of TLR/NFkappa-B signalling / Defects of TLR/NFkappa-B signalling

Created: 17 Apr 2018, 12:29 p.m.