Genes associated with hemophagocytic lymphohistiocytosis (HLH)

Gene abbreviation	Full gene name	Inheritance	Disorder name/phenotype*
AP3B1	Adaptor-related protein complex 3 subunit beta 1	AR	Hermansky-Pudlak syndrome 2
ATM	ATM serine/threonine kinase	AR	Ataxia-telangiectasia
BTK	Bruton tyrosine kinase	XLR	X-linked agammaglobulinemia
CARMIL2	Capping protein regulator and myosin 1 linker 2	AR	Immunodeficiency 58
CD3E	CD3e molecule	AR	Immunodeficiency 18
CD27	CD27 molecule	AR	Lymphoproliferative syndrome 2
CDC42	Cell division cycle 42	AD	CDC42 deficiency
CYBA	Cytochrome b-245 alpha chain	AR	Chronic granulomatous disease 4
CYBB	Cytochrome b-245 beta chain	XLR	X-linked chronic granulomatous disease
DKC1	Dyskerin pseudouridine synthase 1	XLR	Dyskeratosis congenita, X-linked
FAS	Fas cell surface death receptor	AD	Autoimmune lymphoproliferative syndrome, type IA
HAVCR2	Hepatitis A virus cellular receptor 2	AR	Subcutaneous panniculitis-like T cell lymphoma
IKBKG	Inhibitor of nuclear factor kappa B kinase subunit gamma	XLR	Ectodermal dysplasia with immunodeficiency 1
IL2RG	Interleukin 2 receptor subunit gamma	XLR	Severe combined immunodeficiency, Omenn syndrome
IL7R	Interleukin 7 receptor	AR	Severe combined immunodeficiency, T cell-negative, B cell-/natural killer cell-positive type, Omenn syndrome
ITK	Interleukin 2-inducible T cell kinase	AR	Lymphoproliferative syndrome 1
LYST	Lysosomal trafficking regulator	AR	Chediak-Higashi syndrome
MAGT1	Magnesium transporter 1	XLR	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
MEFV	MEFV, pyrin innate immunity regulator	AD, AR	Familial Mediterranean fever
NCF1	Neutrophil cytosolic factor 1	AR	Chronic granulomatous disease 1
NLRC4	NLR family CARD domain-containing 4	AD	Autoinflammation with infantile enterocolitis
ORAI1	ORAI calcium release-activated calcium modulator 1	AR	Immune dysfunction with T cell inactivation due to calcium entry defect 1
PIK3CD	Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	AD	Activated PI3K-delta syndrome 1
PIK3CG	Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma	AR	PIK3CG deficiency
PRF1	Perforin 1	AR	Familial hemophagocytic lymphohistiocytosis 2
RAB27A	RAB27A, member RAS oncogene family	AR	Griscelli syndrome, type 2
RAG1	Recombination activating 1	AR	Severe combined immunodeficiency, Omenn syndrome
RAG2	Recombination activating 2	AR	Severe combined immunodeficiency, Omenn syndrome
SH2D1A	SH2 domain containing 1A	XLR	X-linked lymphoproliferative syndrome 1
STAT1	Signal transducer and activator of transcription 1	AD	Immunodeficiency 31C
STAT2	Signal transducer and activator of transcription 2	AR	Immunodeficiency 44
STAT3	Signal transducer and activator of transcription 3	AD	Autoimmune disease, multisystem, infantile onset, 1
STX11	Syntaxin 11	AR	Familial hemophagocytic lymphohistiocytosis 4
STXBP2	Syntaxin binding protein 2	AR	Familial hemophagocytic lymphohistiocytosis 5
TNFRSF1A	Tumor necrosis factor receptor superfamily member 1A	AD	Periodic fever, familial
UNC13D	Unc-13 homolog D	AR	Familial hemophagocytic lymphohistiocytosis 3
WAS	Wiskott-Aldrich syndrome	XLR	Wiskott-Aldrich syndrome
XIAP	X-linked inhibitor of apoptosis	XLR	X-linked lymphoproliferative syndrome 2

Clinical signs may be present that warrant evaluation for the presence of primary immunodeficiency. Please note that the above table is not comprehensive.

AR: autosomal recessive; XLR: X-linked recessive; AD: autosomal dominant; OMIM: Online Mendelian Inheritance in Man.
* The phenotypic descriptions were derived from OMIM phenotype labels.

Graphic 119238 Version 2.0

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Genes associated with hemophagocytic lymphohistiocytosis (HLH)