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| Combined Immunodeficiency v1.124 | ITPR3 | Zornitza Stark Phenotypes for gene: ITPR3 were changed from Combined immunodeficiency, MONDO:0015131, ITPR3-related to Combined immunodeficiency, MONDO:0015131, ITPR3-related; Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.123 | ITPR3 | Zornitza Stark Publications for gene: ITPR3 were set to PMID: 36302985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.122 | ITPR3 | Zornitza Stark Mode of inheritance for gene: ITPR3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.121 | ITPR3 | Zornitza Stark edited their review of gene: ITPR3: Added comment: More than 10 individuals reported with heterozygous variant and combined immunodeficiency +/- ectodermal features and neuropathy.; Changed publications: 36302985, 39270020, 39560673; Changed phenotypes: Combined immunodeficiency, MONDO:0015131, ITPR3-related, Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.69 | ITPR3 | Zornitza Stark Phenotypes for gene: ITPR3 were changed from Combined immunodeficiency, MONDO:0015131, ITPR3-related to Combined immunodeficiency, MONDO:0015131, ITPR3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.68 | ITPR3 | Zornitza Stark Marked gene: ITPR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.68 | ITPR3 | Zornitza Stark Gene: itpr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.68 | ITPR3 | Zornitza Stark Phenotypes for gene: ITPR3 were changed from ombined immunodeficiency, MONDO:0015131, ITPR3-related to Combined immunodeficiency, MONDO:0015131, ITPR3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.68 | ITPR3 | Zornitza Stark Phenotypes for gene: ITPR3 were changed from Combined Immune deficiency, immune dysregulation to ombined immunodeficiency, MONDO:0015131, ITPR3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.67 | ITPR3 | Zornitza Stark Classified gene: ITPR3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.67 | ITPR3 | Zornitza Stark Gene: itpr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.66 | ITPR3 | Zornitza Stark reviewed gene: ITPR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined immunodeficiency, MONDO:0015131, ITPR3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.66 | ITPR3 |
Peter McNaughton gene: ITPR3 was added gene: ITPR3 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: ITPR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPR3 were set to PMID: 36302985 Phenotypes for gene: ITPR3 were set to Combined Immune deficiency, immune dysregulation Review for gene: ITPR3 was set to GREEN Added comment: Three different variants in two unrelated compound heterozygous patients demonstrated impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and proliferation. P1 was a 12-year-old male patient who presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. P2 was a 36-year-old male who presented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous immunoglobulin. The patient did not show signs of neuromuscular disorder. Authors suggest a partially recessive mode of inheritance with complete defects in these causing embryonic lethality. Sources: Literature |
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