We report the case of a patient with severe bleeding diathesis associated with combined homozygous CalDAG-GEFI and heterozygous P2Y12 deficiencies, characterized by normal ADP-induced platelet shape change but absent ADP-induced platelet aggregation. This is the first patient with combined CalDAG-GEFI and P2Y12 deficiencies that has been described so far.
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies / Paniccia Rita. - In: HAEMATOLOGICA. - ISSN 0390-6078. - STAMPA. - 105:(2020), pp. 361e-364e. [10.3324/haematol.2019.232850]
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies.
Paniccia Rita
2020
Abstract
We report the case of a patient with severe bleeding diathesis associated with combined homozygous CalDAG-GEFI and heterozygous P2Y12 deficiencies, characterized by normal ADP-induced platelet shape change but absent ADP-induced platelet aggregation. This is the first patient with combined CalDAG-GEFI and P2Y12 deficiencies that has been described so far.
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