Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation

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Prevalence (%) of clinical parameters based on data from 1 references describing 41 individuals

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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%)
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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