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Non-SCID combined immunodeficiency defects

Disease	Gene	Inheritance	T cells	B cells
DOCK2 deficiency	DOCK2	AR	Low	Normal
CD40 ligand deficiency	CD40LG	XL	Normal to low, decreased antigen-specific responses	Normal except for reduced memory cells and absent switched memory cells, decreased function
CD40 deficiency	CD40	AR	Normal, decreased antigen-specific responses	Normal except for reduced memory cells and absent switched memory cells, decreased function
ICOS deficiency	ICOS	AR	Normal	Normal
CD3-gamma deficiency	CD3G	AR	Normal with low TCR	Normal
CD8 deficiency	CD8A	AR	Normal CD4, absent CD8	Normal
ZAP-70 deficiency	ZAP70	AR	Low CD8, normal CD4, decreased function	Normal
MHC class I deficiency	TAP1/TAP2	AR	Absent MHC I, low CD8, normal CD4	Normal
MHC class I deficiency	TAPBP	AR	Absent MHC I, low CD8, normal CD4	Normal
MHC class I deficiency	B2M	AR	Absent MHC I, low CD8, normal CD4	Normal
MHC class II deficiency, class A	CIITA	AR	Absent MHC II, low CD4, normal CD8	Normal
MHC class II deficiency, class B	RFXANK	AR	Absent MHC II, low CD4, normal CD8	Normal
MHC class II deficiency, class C	RFX5	AR	Absent MHC II, low CD4, normal CD8	Normal
MHC class II deficiency, class D	RFXAP	AR	Absent MHC II, low CD4, normal CD8	Normal
DOCK8 deficiency	DOCK8	AR	Low number, decreased function	Low to normal with low memory cells, decreased function
Rhoh deficiency	RHOH	AR	Normal but restricted repertoire with decreased function	Normal
MST1 deficiency	STK4	AR	Low number, decreased function	Low
TCR-alpha deficiency	TRAC	AR	Absent alpha-beta, but present gamma-delta T cells with decreased function	Normal
LCK deficiency	LCK	AR	Low CD4, low Treg, restricted repertoire with decreased function	Normal
MALT1 deficiency	MALT1	AR	Normal number, decreased function	Normal
CARD11 deficiency	CARD11	AR	Normal number, decreased function	Normal
BCL10 deficiency	BCL10	AR	Normal number, decreased function to antigens and CD3 stimulation	Normal except for low memory cells, decreased function
BCL11B deficiency	BCL11B	AD	Low number, poor proliferation	Normal
IL-21 deficiency	IL21	AR	Normal number, normal-low function	Low
IL-21R deficiency	IL21R	AR	Normal number, decreased function	Normal
OX40 deficiency	TNFRSF4	AR	Normal	Normal except for reduced memory population
IKBKB deficiency	IKBKB	AR	Normal number, reduced Treg, impaired TCR activation	Normal, decreased function
NIK deficiency	MAP3K14	AR	Normal number, poor antigen proliferation	Low, including low switched memory population
RelB deficiency	RELB	AR	Normal number, poor diversity and function	Low to absent
Moesin deficiency	MSN	XL	Low normal number, poor migration and proliferation	Low
TFRC deficiency	TFRC	AR	Normal number, poor proliferation	Normal number except for low memory cells
Purine nucleoside phosphorylase deficiency	PNP	AR	Low	Low
Orai-1 deficiency	ORAI1	AR	Normal number, impaired activation	Normal
Stromal interaction molecule 1 deficiency	STIM1	AR	Normal number, impaired activation	Normal
MAGT1 deficiency	MAGT1	XL	Low CD4, poor CD3-mediated proliferation	Normal
Winged helix deficiency	FOXN1	AR	Low	Normal
STAT5b deficiency	STAT5B	AR	Low	Normal
Cytidine triphosphate synthase 1 deficiency	CTPS1	AR	Normal low, poor proliferation to antigen stimulation	Low normal

DOCK2: dedicator of cytokinesis 2; AR: autosomal recessive; CD: cluster of differentiation; XL: X linked; ICOS:i nducible T cell costimulatory; TCR: T cell receptor; ZAP-70: zeta chain of T cell receptor-associated protein kinase 70; MHC: major histocompatibility complex; TAP1: transporter 1, ATP-binding cassette subfamily B member; TAP2: transporter 2, ATP-binding cassette subfamily B member; TAPBP: TAP-binding protein; B2M: beta-2-microglobulin; CIITA: class II major histocompatibility complex transactivator; RFXANK: regulatory factor X-associated ankyrin-containing protein; RFX5: regulatory factor X5; RFXAP: regulatory factor X-associated protein; DOCK8: dedicator of cytokinesis 8; RHOH: ras homolog family member H; MST1: macrophage stimulating 1; STK4: serine/threonine kinase 4; TRAC: T cell receptor alpha constant; LCK: LCK proto-oncogene, SRc family tyrosine kinase; Treg: regulatory T cell; MALT1: MALT1 paracaspase; CARD11: caspase recruitment domain family member 11; BCL10: B cell CLL/lymphoma 10; BCL11B: B cell CLL/lymphoma 11B; AD: autosomal dominant; IL-21: interleukin 21; IL-21R: interleukin 21 receptor; TNFRSF4: TNF receptor superfamily member 4; IKBKB: inhibitor of nuclear factor kappa B kinase subunit beta; NIK: nuclear factor-kappa-B-inducing kinase; MAP3K14: mitogen-activated protein kinase kinase kinase 14; RELB: RELB proto-oncogene, NF-kB subunit; MSN: moesin; TFRC: transferrin receptor; PNP: purine nucleoside phosphorylase; ORAI1: ORAI calcium release-activated calcium modulator 1; STIM1: stromal interaction molecule 1; MAGT1: magnesium transport 1; FOXN1: forkhead box N1; STAT5B: signal transducer and activator of transcription 5B; CTPS1: CTP synthase 1.

Adapted from:

Picard C, Bobby Gaspar H, Al-Herz W, et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol 2018; 348:96.
Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol 2015; 136:1186.

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