Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation |
Contact us |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 41 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| B-cell depletion | lymphatic | 68 % | 25917813 | 2015-09-18 | |
| T-cell reduction | lymphatic | 63 % | 25917813 | 2015-09-18 | |
| Recurrent infections | lymphatic | 56 % | 25917813 | 2015-09-18 | |
| Radiosensitivity | multi | 34 % | 25917813 | 2015-09-18 | |
| Hypogammaglobulinemia | lymphatic | 19 % | 25917813 | 2015-09-18 | |
| Thrombocytopenia | circulatory | 7 % | 25917813 | 2015-09-18 | |
| Neutropenia | lymphatic | 5 % | 25917813 | 2015-09-18 |
List of references:
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
Kerstin Felgentreff, Yu Nee Lee, Francesco Frugoni, Likun Du, Mirjam van der Burg, Silvia Giliani, Ilhan Tezcan, Ismail Reisli, Ester Mejstrikova, Jean-Pierre de Villartay, Barry P Sleckman, John Manis, Luigi D Notarangelo,
The Journal of allergy and clinical immunology - Jul 2015