Can a patient still have primary HLH even in the absence of any HLH associated genetic mutations?
rWGS did not demonstrate any HLH definable or associated mutations.
1 Answer
Mednet MemberInvited Expert
Pediatric Hematology/Oncology · Kapiolani Medical Center For Women & Children
Answered on · Updated on
Yes, a patient can still have primary Hemophagocytic Lymphohistiocytosis (HLH) even in the absence of identified HLH-associated genetic mutations.
Primary HLH, also known as familial HLH, is typically linked to mutations in genes related to the immune system, such as PRF1, UNC13D, STX11, STXBP2, and ...
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