haemophagocytic lymphohistiocytosis, familial, type 2

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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 ?
EpICD combines with FHL2, [beta]-cathenin and Lef proteins inside the nucleus.
Among the CpGs significantly associated with [DELTA]age and aging rate (Bonferroni corrected P <0.05), we identified 3 CpGs associated with urinary 1-OH-pyrene levels (located on FHL2 and BOK; P <0.05), and 6 CpGs associated with 9-OH-phenanthrene levels (located on ELOVL2, TR1M59, ACSS3, RNF170, and 3q25.31; P<0.05) (Table S6).
ELOVL2, FHL2, DUSP27, and ORAOV1 in an 8-CpG blood-based model reporting
Recently, PPAR[beta]/[delta] was identified as a target gene of FHL2, a tumor suppressor gene also involved in hepatocellular carcinoma [119, 120].
Noma et al., "FHL2 prevents cardiac hypertrophy in mice with cardiac-specific deletion of ROCK2," FASEB Journal, vol.
Based on motif analysis of PAX5, we searched out 28 PAX5 target genes, that is, BAX, BCL2, BLK, CCND1, CD19, D79A, CDKN1A, FCER2, FHL2, LEF1, MET, MMP1, MYCNA, PRDM1, PRKCE, RAG2, RB1, TIMP1, TP53, XBP1, EGR1, ESR1, ELK1, ETS1, KCNH4, VPREB1, IGLL1, and KCNH8.
A total of 124 DEGs (e.g., POLA2, TMED7, SLC25A24, NF2, and COL4A2) were significantly enriched in "lymphocyte TarBase pathway" (P value = 9.35 x [10.sup.-16]), while 28 DEGs (e.g., NCOR2, DSTN, RAC1, PIK3R1, and FHL2) were significantly enriched in "androgen receptor signaling pathway" (P value = 9.12 x [10.sup.-7]).
Lin et al., "Deletion of FHL2 gene impaired ischemia-induced blood flow recovery by modulating circulating proangiogenic cells," Arteriosclerosis, Thrombosis, and Vascular Biology, vol.
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).
Methylation was detected at genes regarded in the literature as "aging genes" including the FHL2 gene and the ELOVL2 gene.
Golomb et al., "FHL2 switches MITF from activator to repressor of Erbin expression during cardiac hypertrophy," International Journal of Cardiology, vol.