Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0021345 (
infectious mononucleosis
)
3,358
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A severe course of
infectious mononucleosis
should always lead up to the suspicion of a primary immunodeficiency. We describe the case of a boy with severe
mononucleosis
accompanied by the development of hemophagocytic lymphohistiocytosis and lymphoma. By whole exome sequencing, we identified a mutation of uncertain significance in
CTPS2
, a gene closely related to CTPS1, which is involved in a primary immune deficiency with susceptibility to herpesviruses. We discuss the challenge of a correct interpretation of data from whole exome sequencing, questioning whether the
CTPS2
variant found in our patient is just an incidental finding or a mutation with variable penetrance.
...
PMID:The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related Lymphoma. 2917 66
