Severe Combined Immunodeficiency with Microcephaly, Growth Retardation and Sensitivity to Ionizing Radiation |
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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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 |
| Microcephaly | nervous | 100 % | 16439204 | 2015-09-18 | |
| Short stature | skeletal | 100 % | 16439204 | 2015-09-18 | |
| Recurrent infections | lymphatic | 100 % | 16439204 | 2015-09-18 | |
| Radiosensitivity | multi | 100 % | 16439204 | 2015-09-18 | |
| Lymphopenia | circulatory | 100 % | 16439204 | 2015-09-18 | |
| B-cell depletion | lymphatic | 100 % | 16439204 | 2015-09-18 | |
| T-cell reduction | lymphatic | 100 % | 16439204 | 2015-09-18 | |
| Beaked nose | skeletal | 60 % | 16439204 | 2015-09-18 | |
| Thrombocytopenia | circulatory | 40 % | 16439204 | 2015-09-18 | |
| Anemia | circulatory | 40 % | 16439204 | 2015-09-18 | |
| Hypoplasia of the middle phalanx of the fifth finger | skeletal | 40 % | 16439204 | 2015-09-18 | |
| Mental retardation | nervous | 20 % | 16439204 | 2015-09-18 |
List of references:
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
Dietke Buck, Laurent Malivert, Régina de Chasseval, Anne Barraud, Marie-Claude Fondanèche, Ozden Sanal, Alessandro Plebani, Jean-Louis Stéphan, Markus Hufnagel, Françoise le Deist, Alain Fischer, Anne Durandy, Jean-Pierre de Villartay, Patrick Revy,
Cell - Jan 2006