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Updated: Aug 11, 2026

From a 2DE-Gel Spot to Protein Function: Lesson Learned From HS1 in Chronic Lymphocytic Leukemia
Published on: October 19, 2014
Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance
M Duval1, O Fenneteau, V Doireau
1Service d'Hémato-Immunologie, Centre d'Investigations Cliniques, Laboratoire d'Immunologie, Hôpital Robert-Debré, Paris, France.
Abstract:
We describe 4 cases of lysinuric protein intolerance, which all fulfilled the diagnostic criteria for hemophagocytic lymphohistiocytosis. Mature histiocytes and neutrophil precursors participated in hemophagocytosis in the bone marrow. Moreover, serum levels of ferritin and lactate dehydrogenase were elevated, hypercytokinemia was present, and soluble interleukin-2 receptor levels were increased up to 18.6-fold. The diagnosis of lysinuric protein intolerance should therefore be considered in any patient presenting with hemophagocytic lymphohistiocytosis.
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