Genes associated with early-onset or severe autoimmunity

Gene abbreviation	Full gene name	Inheritance	Disorder name/phenotype^*
ADA2	Adenosine deaminase 2	AR	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
AIRE	Autoimmune regulator	AR	Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia
ARPC1B	Actin-related protein 2/3 complex subunit 1B	AR	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
COPA	Coatomer protein complex subunit alpha	AD	Autoimmune interstitial lung, joint, and kidney disease
CTLA4	Cytotoxic T-lymphocyte-associated protein 4	AD	Autoimmune lymphoproliferative syndrome, type V
DEF6	DEF6 guanine nucleotide exchange factor	AR	DEF6 deficiency
DNASE2	Lysosomal deoxyribonuclease II	AR	DNASE2 deficiency
DNASE1L3	Deoxyribonuclease I-like 3	AR	Systemic lupus erythematosus 16
FOXP3	Forkhead box P3	XLR	IPEX (immunodysregulation, polyendocrinopathy, and enteropathy, X-linked)
IL2RB	Interleukin 2 receptor beta	AR	Immunodeficiency 63 with lymphoproliferation and autoimmunity
LRBA	LPS-responsive beige-like anchor protein	AR	Common variable immunodeficiency 8 with autoimmunity
NCKAP1L	NCK-associated protein 1-like	AR	Immunodeficiency 72 with autoinflammation
OTULIN	OTU deubiquitinase with linear linkage specificity	AR	Autoinflammation, panniculitis, and dermatosis syndrome
PRKCD	Protein kinase C delta	AR	Autoimmune lymphoproliferative syndrome, type III
SLC7A7	Solute carrier family 7 member 7	AR	Lysinuric protein intolerance
SOCS1	Suppressor of cytokine signaling 1	AD	SOCS1 deficiency
STAT3	Signal transducer and activator of transcription 3	AD	Autoimmune disease, multisystem, infantile onset
TLR7	Toll-like receptor 7	XLD	Systemic lupus erythematosus 17

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; XLD: X-linked dominant; XLR: X-linked recessive.

* The phenotypic descriptions were derived from OMIM phenotype labels.

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Genes associated with early-onset or severe autoimmunity