Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: TAPBP

Green List (high evidence)

Comment on list classification: There are now 3 unrelated cases with biallelic TAPBP variants (1 deletion and 2 cases with the same homozygous nonsense variant), which presented with recurrent infections due to tapasin deficiency. Hence, this gene should be promoted to Green on Primary immunodeficiency or monogenic inflammatory bowel disease.

Created: 1 Apr 2026, 3:12 p.m. | Last Modified: 1 Apr 2026, 3:12 p.m.

Panel Version: 8.97

PMID: 38989814 Ramalingam et al., 2024
Case 2 - 10yo boy with recurrent respiratory infections for 2 years, presented with wheezing and hypoxia; homozygous for TAPBP c.312del, p.Lys104AsnfsTer6. Consanguineous family. Patient was diagnosed with MHC class 1 deficiency, underwent a hematopoietic stem cell transplant.

PMID: 38866210 Elsayed et al., 2024
Identified a homozygous deletion in TAPBP (c.312del, p.(K104Nfs∗6)) causing tapasin deficiency in a patient with bronchiectasis and recurrent respiratory tract infections as well as herpes zoster. Patient was a Turkish male, 39yo at time of report.

PMID: 12149238 Yabe et al., 2002
54-year-old woman with tapasin deficiency and MHC1D3 and a homozygous Alu-mediated 7.4-kb deletion encompassing exons 4 through 7 of the TAPBP gene. Western blot analysis of patient lymphocytes showed absence of the TAPBP protein.

Functional evidence: PMID: 10973281 Garbi et al., 2000 - tapasin deficient mice have impaired immune response

Created: 1 Apr 2026, 3:08 p.m. | Last Modified: 1 Apr 2026, 3:14 p.m.

Panel Version: 8.97

Comment on phenotypes: OMIM phenotype updated 1st Apr 2026.

Created: 1 Apr 2026, 2:56 p.m. | Last Modified: 1 Apr 2026, 2:56 p.m.

Panel Version: 8.94

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?MHC class I deficiency 3, OMIM:620814; MHC class I deficiency 3, MONDO:0971012

Publications

• 38866210
• 38989814

I don't know

One patient but high confidence in pathogenicity

Created: 29 Jun 2018, 3:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

I don't know

Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.

Created: 14 Oct 2020, 12:15 p.m. | Last Modified: 14 Oct 2020, 12:15 p.m.

Panel Version: 2.215

The following PubMed IDs were added to gene TAPBP (OMIM gene MIM#601962): 12149238. These publications have been associated with the gene by the immunodeficiencies 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

Added 'deletion tag'. Only reported case of association with Bare lymphocyte syndrome, type I is in a patient with a 7.4 kb deletion in TAPBP.

Created: 9 May 2018, 2:25 p.m.

In OMIM TAPBP is associated with Bare lymphocyte syndrome, type I. Evidence comes from Yabe et al. (2002) (PMID: 12149238) who report that a patient with tapasin deficiency and type I bare lymphocyte syndrome with an Alu-mediated homozygous 7.4-kb deletion, encompassing exons 4 through 7, in the TAPBP gene. Nothing found in Gene2Phenotype.
No other reports of cases of variants in TAPBP associated with Bare lymphocyte syndrome, type I were found in PubMed.
TAPBP is listed in the Genetics Test registry as a Clinical Test on several immune deficiency panels https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=6892[geneid]. Rating as amber as insufficient evidence to classify as green.

Created: 9 May 2018, 2:17 p.m.

Comment on phenotypes: Added MIM number to Bare lymphocyte syndrome, type I

Created: 9 May 2018, 1:52 p.m.

Publications

• 12149238

I don't know

Keep Amber until more info on gene and disease association, request evidences from GOSH, GRID and Victorian Clinical Genetics Services

Created: 5 Jul 2018, 12:55 p.m.

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TAPBP .PanelApp HGNC gene symbol check: TAPBP . IUIS Disease: MHC class I deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Vasculitis,pyoderma gangrenosum. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency

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

This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.

Created: 19 Apr 2018, 1:46 p.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: TAPBP, PanelApp HGNC gene symbol check: TAPBP, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / HLA class I deficiency / HLA class I deficiency

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

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TAPBP, GRID_Gene_Symbol: TAPBP, GRID_Transcript_ENS_Community submitted: ENST00000426633, GRID_Transcript_RefSeq: NM_003190.4, GRID_Transcript_ENS_used_on_Production: ENST00000426633

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