Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report

Table 1 Subtypes of familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative syndrome

Subtype	OMIM ID	Causative gene	HGNC ID	Cytogenetic location	Inheritance
FHL1	267700	HPLH1 ^a	HGNC:23824	9q21.3 - q22	AR
FHL2	603553	PRF1	HGNC:9360	10q22.1	AR
FHL3	608898	UNC13D	HGNC:23147	17q25.1	AR ^b
FHL4	603552	STX11	HGNC:11429	6q24.2	AR
FHL5	613101	STXBP2	HGNC:11445	19p13.2	AR ^b
XLP1	308240	SH2D1A	HGNC:10820	Xq25	XLR
XLP2	300635	XIAP	HGNC:592	Xq25	XLR

AR autosomal recessive, XLR X-linked recessive
^a The HGNC locus types of HPLH1 is phenotype only, meaning mapped phenotypes where the causative gene has not been identified (SO:0001500)
^b Both FHL3 and FHL5 could be caused by homozygous or compound heterozygous mutations in causative gene

ISSN: 1471-2350