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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease fetal edema
Comorbidity C0024291|hemophagocytic lymphohistiocytosis
Sentences 2
PubMedID- 25999944 We are aware of only limited additional observations of fetal aid: a case of os at birth due to an il7rα deficiency (10) and a few reports on fetal hydrops associated with hlh (hemophagocytic lymphohistiocytosis), including two perforin-deficient twins (11); these cases were described as non-immune hydrops but, as discussed above, we would classify them as aid due to innate immunity mechanisms.
PubMedID- 23073042 Association of nonimmune hydrops fetalis with familial hemophagocytic lymphohistiocytosis in identical twin neonates with perforin his222arg (c665a>g) mutation.

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