haemophagocytic lymphohistiocytosis, familial, type 2

(redirected from FHL2)

haemophagocytic lymphohistiocytosis, familial, type 2

A rare autosomal recessive disorder (OMIM:603553) characterised by immune dysregulation with hypercytokinaemia, defective NK cell activity, and massive infiltration of several organs by activated lymphocytes and macrophages.

Clinical findings
Fever, hepatosplenomegaly, cytopenias, hypertriglyceridemia, hypofibrinogenaemia; less commmonly, neurologic defects ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.

Molecular pathology
Defects in PRF1, which encodes a protein that plays a role in targeting and fusion of intracellular transport vesicles, cause familial haemophagocytic lymphohistiocytosis type 2.
References in periodicals archive ?
As can be expected, these genes can be assigned to different functional groups such as cell death regulators (CASP2, ING2, MDM4, NAIP), transcriptional and translational regulation (DEPDC1, GABPB1, LHFPL2, NFIB, P0LR3C, RPL34, RPS3A, RPS21, RPS25, TFDP2, TRIM24, ZBTB1, ZBTB38, ZFP112), oxidative stress response (SPATS2L, GSTT2B, NQO1), DNA maintenance and processing (BAHCC1, FANCA, H1ST1H3G, IK, KDM4C, MCM7, PRB3, RNASEH2B, SNRPE, TFDP2), blood coagulation (FGA, MATR3, PROCR, P1K3CG), signal transduction (ANXA2, ARHGAP19, C7orf47, CCDC50, DTX3, FHL2, P1K3CG, RALB, T1CAM2), cytoskeletal components (BCL7A, DYNC1LI2, SEPT10, SEPT11), transport functions (ABCC1, FXYD2, S100A6, SCNN1G, XP05), or others (ADAM22, ALDH3A2, FAM161A, HDDC2, HLA-F).
Genes of diverse functional groups and signaling routes appeared: Cytoskleleton (BCL7A, DYNC1L12, SEFT10, SEPT11), transcriptional and translational regulation (DEPDC1, GABPB1, LHFPL2, NFIB, POLR3C, RPL34, RPS3A, RPS21, RPS25, TFDP2, TRIM24, ZBTB1, ZBTB38, ZFP112), cell death (CASP2, INC2, MDM4, NAIP), DNA maintenance and processing (BAHCC1, FANCA, HIST1H3G, IK, KDM4C, MCM7, PRB3, RNASEH2B, SNRPE, TFDP2), signal transduction (ANXA2, ARHGAP19, C7orf47, CCDC50, DTX3, FHL2, P1K3CG, RALB, TICAM2), transport functions (ABCC1, FXYD2, S100A6, SCNN1C, XP05), oxidative stress response (SPATS2L, GSTT2B, NQ01), blood coagulation (FGA, MATR3, PROCR, PIK3CG), and others (ADAM22, ALDH3A2, FAM161A, HDDC2, HLA-F).
Methylation was detected at genes regarded in the literature as "aging genes" including the FHL2 gene and the ELOVL2 gene.
Protein-protein interaction of FHL3 with FHL2 and visualization of their interaction by green fluorescent proteins (GFP) two-fusion fluorescence resonance energy transfer (FRET).