haemophagocytic lymphohistiocytosis, familial, type 3

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haemophagocytic lymphohistiocytosis, familial, type 3

A rare autosomal recessive, genetically heterogeneous disorder (OMIM:608898) characterised by immune dysregulation with hypercytokinaemia and defective natural killer cell function.

Clinical findings
Fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenaemia; neurologic abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Haemophagocytosis is a prominent feature, as is a non-malignant infiltration of macrophages and activated T-cells in lymph nodes, the spleen and other organs.

Molecular pathology
Caused by defects in UNC13D, which encodes a protein that plays a role in cytotoxic granule exocytosis in leukocytes and is required for both granule maturation and granule docking, as well as for priming at sites of immune interactions.
References in periodicals archive ?
In the case of sturgeons, which have complex genomes, NGS allows the transcriptome analysis and gives information on possible differences between males and females in expression and presence of various genes (dmrt1, tra-1, wt1, lhx1, cyp19A1, fhl3, fem1a, gsdf, foxl2, ar, emx2, cyp17a1, etc.) that may be involved in the sexual development processes in different sturgeon species [7, 31-33].
naccarii, five genes were found to be specific for male (wt1, lhx1, cyp19A1, fhl3, and fem1a) and two (ar, emx2) for female libraries [32].
Mutations in the UNC13D gene (FHL3) interfere with the role Of the encoded protein Mune 13-4 in cytolytic granule exocytosis and FHL4 states the mutations in the STX11 gene and production of syntaxin 11, which also plays a role in cytotoxic granule release.
ABSTRACT : Four-and-a-half LIM-only protein 3 (FHL3) is a member of the LIM protein superfamily and can participate in mediating protein-protein interaction by binding one another through their LIM domains.
Four-and-a-half LIM-only protein 3 (FHL3) is one of the members of FHL proteins that contain four types of LIM-only protein.
Additionally, the chromosomal location and expression pattern of the FHL3 were also investigated in pigs.
Cloning and sequence analysis of full-length cDNA SMART (Switching Mechanism At 5' end of the RNA Transcript) RACE (Rapid Amplification of the cDNA Ends) polymerase chain reaction (PCR) was used to amplify the 5' end of the FHL3 gene.
To obtain the 3' end of FHL3 cDNA, expressed sequence tags (ESTs) database mining was performed with BLASTN using the obtained sequence information of pig FHL3 gene (AY277587).
The tissue distribution of FHL3 mRNA was determined by RT-PCR.
In porcine FHL3, it was inferred that domain I extended from N-38 to S-98, domain II from S-99 to P-160, domain III from R-161 to A-218 and domain IV from R-219 till the C-terminal of porcine FHL3 (Figure 2).