Laboratory of Pediatric Immunoinfectivology
(Tor Vergata University)
General information
Laboratory of Pediatric Immunoinfectivology
Tor Vergata University
Via Montpellier, 1
Rome
Lazio
Italy - 00133
https://web.uniroma2.it/Organization ID: 506913
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 17
Gene
| Gene | Submissions | Last Updated |
|---|
| ADA | 2 | Feb 28, 2019 |
| ADA2 | 1 | Feb 28, 2019 |
| ARPC1B | 1 | Feb 28, 2019 |
| IKBKB | 1 | Nov 29, 2022 |
| IL2RG | 1 | Feb 28, 2019 |
| IL7R | 2 | Feb 28, 2019 |
| JAK3 | 1 | Feb 28, 2019 |
| RAG1 | 6 | Feb 28, 2019 |
| RAG2 | 1 | Feb 28, 2019 |
| XIAP | 1 | Feb 28, 2019 |
Condition
| Name | Submissions | Last Updated | | Combined immunodeficiency due to partial RAG1 deficiency | 1 | Feb 28, 2019 |
| Combined immunodeficiency with skin granulomas | 2 | Feb 28, 2019 |
| Immunodeficiency 104 | 2 | Feb 28, 2019 |
| Immunodeficiency 15a | 1 | Nov 29, 2022 |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 1 | Feb 28, 2019 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2 | Feb 28, 2019 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 4 | Feb 28, 2019 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 1 | Feb 28, 2019 |
| Vasculitis due to ADA2 deficiency | 1 | Feb 28, 2019 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 1 | Feb 28, 2019 |
| X-linked severe combined immunodeficiency | 1 | Feb 28, 2019 |
