eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | citrullinemia |
| Comorbidity | C0009447|common variable immunodeficiency |
| Sentences | 2 |
| PubMedID- 24324951 | The alternative diagnostics were defined as follows: (a) alpha-1-antitrypsin deficiency was diagnosed if serum levels were below 80 m/dl; (b) common variable immunodeficiency: presence of igg or subclass deficiency (below 700 mg/dl for total igg, and 550, 130, 21 and 20 mg/dl for igg1 to igg4 subclasses, resp.) |
| PubMedID- 20704795 | Results: of the 35 cases of pid, 6 cases were confirmed with combined t- and b-cell immunodeficiency, 4 cases with x-linked agammaglobulinaemia, 22 cases with selective igg subclass deficiency, 1 case with common variable immunodeficiency and 2 cases with chronic granulomatous disease. |
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