Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: FAAP24

Red List (low evidence)

Not associated with a phenotype in OMIM.

PMID: 17289582 - Ciccia et al 2007 - report that FAAP24 (C19ORF40) is a component of the Fanconi anemia (FA) core complex and interacts with the C-terminal region of FANCM. FAAP24 is required for normal levels of FANCD2 monoubiquitylation following DNA damage.

PMID: 27473539 - Daschkey et al 2016 - report a homozygous missense mutation in FAAP24 (cC635T, pT212M) in two siblings of a consanguineous Turkish family who died from an EBV-associated lymphoproliferative disease after infection with a variant EBV strain, expressing a previously unknown EBNA2 allele.

Created: 3 Nov 2020, 8:16 p.m. | Last Modified: 3 Nov 2020, 8:16 p.m.

Panel Version: 2.369

The following PubMed IDs were added to gene FAAP24 (OMIM gene MIM#610884): 17289582;27473539. These publications have been associated with the gene by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.

Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.

Panel Version: 2.208

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EBV-associated lymphoproliferative disease

Publications

• 17289582
• 27473539

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): FAAP24 .PanelApp HGNC gene symbol check: FAAP24 . IUIS Disease: FAAP24 deficiency . IUIS Inheritance: AR .T cells: Normal numbers , .B cells: Normal , .IUIS Other affected cells: N/A. IUIS Associated features: EBV infection-driven lymphoproliferative disease. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)

Created: 6 Jul 2018, 12:09 p.m.

Comment on publications: Added publications suggested from external expert review

Created: 6 Jul 2018, 12:07 p.m.

Red List (low evidence)

2 siblings in 1 kindred, unusual strain of EBV

Created: 29 Jun 2018, 8:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EBV lymphoproliferative disease

Publications

• 27473539