Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Allergy and Immunology"
DOI: 10.1111/pai.12812
Abstract: Immunodeficiency associated with mutations in the DNA cross-link repair 1C gene (DCLRE1C) can have variable clinical presentations including severe combined immunodeficiency (SCID), Omenn syndrome, atypical SCID or common variable immunodeficiency (CVID) (1-3). DCLRE1C encodes the… read more here.
Keywords: dclre1c; immunodeficiency; immunodeficiency scid; combined immunodeficiency ... See more keywords
Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)—Two Diseases That Exacerbate Each Other: Case Report
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22179479
Abstract: Hemolytic uremic syndrome (HUS) is defined by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI). Atypical HUS (aHUS), distinguished by its etiology, is caused by uncontrolled overactivation of the alternative complement… read more here.
Keywords: uremic syndrome; hemolytic uremic; scid; combined immunodeficiency ... See more keywords