Genes associated with lymphoproliferative disease

Gene abbreviation	Full gene name	Inheritance	Disorder name/phenotype^*
ADA2	Adenosine deaminase 2	AR	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
CASP8	Caspase 8	AR	Autoimmune lymphoproliferative syndrome, type IIB
CASP10	Caspase 10	AD	Autoimmune lymphoproliferative syndrome, type IIA
CD27	CD27 molecule	AR	Lymphoproliferative syndrome 2
CD70	CD70 molecule	AR	Lymphoproliferative syndrome 3
CDC42	Cell division cycle 42	AD	CDC42 deficiency
CTLA4	Cytotoxic T-lymphocyte-associated protein 4	AD	Autoimmune lymphoproliferative syndrome, type V
FAS	Fas cell surface death receptor	AD	Autoimmune lymphoproliferative syndrome, type IA
FASLG	Fas ligand	AD	Autoimmune lymphoproliferative syndrome, type IB
FCHO1	FCH domain only protein 1	AR	Immunodeficiency 76
IL2RB	Interleukin 2 receptor beta	AR	Immunodeficiency 63 with lymphoproliferation and autoimmunity
ITK	Interleukin 2-inducible T cell kinase	AR	Lymphoproliferative syndrome 1
KRAS	Kras protooncogene GTPase	AD	RAS-associated autoimmune leukoproliferative disorder
LAT	Linker for activation of T cells	AR	Immunodeficiency 52
LRBA	LPS-responsive beige-like anchor protein	AR	Common variable immunodeficiency-8 with autoimmunity
MAGT1	Magnesium transporter 1	XLR	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
NCKAP1L	NCK-associated protein 1-like	AR	Immunodeficiency 72 with autoinflammation
NRAS	Nras protooncogene GTPase	AR	RAS-associated autoimmune leukoproliferative disorder
PIK3CD	Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	AD	Activated PI3K delta syndrome 1
PIK3R1	Phosphoinositide-3-kinase regulatory subunit 1	AD	Activated PI3K delta syndrome 2
PRKCD	Protein kinase C delta	AR	Autoimmune lymphoproliferative syndrome, type III
RASGRP1	RAS guanyl-releasing protein 1	AR	Immunodeficiency 64
RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	AR	Polyglucosan body myopathy 1 with or without immunodeficiency
RIPK1	Receptor-interacting serine/threonine kinase 1	AD	Autoinflammation with episodic fever and lymphadenopathy
SH2D1A	SH2 domain containing 1A	XLR	X-linked lymphoproliferative syndrome 1
STAT3	Signal transducer and activator of transcription 3	AD	Autoimmune disease, multisystem, infantile onset
STK4	Serine/threonine kinase 4	AR	T cell immunodeficiency with recurrent infections, autoimmunity, and cardiac malformations
TET2	Tet methylcytosine dioxygenase 2	AR	Immunodeficiency 75
TLR8	Toll-like receptor 8	XLR	Immunodeficiency 98 with autoinflammation, X linked
TNFRSF9	Tumor necrosis factor receptor superfamily member 9	AR	4-1BB (CD137) deficiency
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; AD: autosomal dominant; IgE: immunoglobulin E; OMIM: Online Mendelian Inheritance in Man; XLR: X-linked recessive.

* The phenotypic descriptions were derived from OMIM phenotype labels.

Graphic 119237 Version 3.0

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Genes associated with lymphoproliferative disease