Rare Diseases Symptoms Automatic Extraction

Cover picture: eur. J. Immunol. 10'14.

[severe combined immunodeficiency]

This month's cover features an in silico modeling of the γc R222C protein. The distribution of the electrostatic potential is shown in red for the negative charges, and in blue for the positive charges. The image is taken from the article by Fuchs et al. (pp. 3129-3140), where the authors analyzed the T-, B-, and NK-cell functional responses to γc-dependent cytokines in patients with the IL2RGR222C mutation, which is relatively frequent in the most common form of severe combined immunodeficiency (X-SCID). In IL2(RGR222C) patients, the signaling of γc cytokines for developmental processes was sufficient, whereas peripheral differentiation and function of lymphocytes was significantly impaired. The authors suggest that impaired T-cell immunity may not fully explain the phenotype, but the defects in several cytokine pathways leading to impaired NK-cell and B-cell immunity may contribute to the severe infection susceptibility.

Diseases presenting "which is relatively frequent in the most common form of severe combined immunodeficiency" symptom

  • severe combined immunodeficiency

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