Mutations detected in patients with unknown disease causing variant.
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A clinical phenotype was reported as follows: EGS538 and 550 have symptoms and signs compatible with STAT3 mutations, including increased IgE-levels and S. aureus infections. Prior to the analysis EGS539 and 540 had 6% and <1% B-lymphocytes in peripheral blood and an increased susceptibility to bacterial infections. EGS542 has been prone to bacterial infections since childhood. EGS543, 546–548, 554, 555, 557 and 559 have reduced levels of B-lymphocytes and of immunoglobulins. EGS560 has a clinical phenotype related to common variable immunodeficiency, but also has congenital defects affecting non-lymphoid organs.
a(Potentially) causal mutations are listed in bold.
bPatient diagnosed with asplenia. Candidate genes not included in this assay.
cNo potential causing variants were found for these individuals in the NGS data
dManuscript in preparation.
Mutations detected in patients with unknown disease causing variant.
创建时间：
2014-12-11
