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Primary immunodeficiency or monogenic inflammatory bowel disease v8.97 TAPBP Ida Ertmanska changed review comment from: 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.; to: 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
Primary immunodeficiency or monogenic inflammatory bowel disease v8.97 TAPBP Ida Ertmanska Classified gene: TAPBP as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.97 TAPBP Ida Ertmanska Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.97 TAPBP Ida Ertmanska Gene: tapbp has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.96 TAPBP Ida Ertmanska Phenotypes for gene: TAPBP were changed from ?MHC class I deficiency 3, OMIM:620814 to ?MHC class I deficiency 3, OMIM:620814; MHC class I deficiency 3, MONDO:0971012
Primary immunodeficiency or monogenic inflammatory bowel disease v8.95 TAPBP Ida Ertmanska Publications for gene: TAPBP were set to 32086639; 12149238; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v8.94 TAPBP Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: TAPBP.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.94 TAPBP Ida Ertmanska edited their review of gene: TAPBP: Added comment: 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.; Changed rating: GREEN; Changed publications to: 38866210, 38989814; Changed phenotypes to: ?MHC class I deficiency 3, OMIM:620814, MHC class I deficiency 3, MONDO:0971012; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v8.94 TAPBP Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 1st Apr 2026.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.94 TAPBP Ida Ertmanska Phenotypes for gene: TAPBP were changed from Vasculitis, pyoderma gangrenosum; Bare lymphocyte syndrome, type I 604571; HLA class I deficiency; Immunodeficiencies affecting cellular and humoral immunity; Vasculitis,pyoderma gangrenosum to ?MHC class I deficiency 3, OMIM:620814
Primary immunodeficiency or monogenic inflammatory bowel disease v2.215 TAPBP Eleanor Williams Classified gene: TAPBP as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.215 TAPBP Eleanor Williams Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.215 TAPBP Eleanor Williams Gene: tapbp has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TAPBP Eleanor Williams Source Other was added to TAPBP.
Publications for gene TAPBP were updated from 32048120; 12149238; 32086639 to 32086639; 12149238; 32048120
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TAPBP Eleanor Williams commented on gene: TAPBP: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TAPBP Louise Daugherty Source IUIS Classification December 2019 was added to TAPBP.
Added phenotypes Vasculitis,pyoderma gangrenosum; Immunodeficiencies affecting cellular and humoral immunity for gene: TAPBP
Publications for gene TAPBP were updated from 12149238 to 32048120; 12149238; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty marked gene: TAPBP as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty commented on gene: TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty commented on gene: TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Sophie Hambleton reviewed gene: TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Eleanor Williams edited their review of TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Eleanor Williams commented on TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty classified TAPBP as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty commented on TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty commented on TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty commented on TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty reviewed TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty Added gene to panel