. 2016 May 24;12:27. doi: 10.1186/s13223-016-0130-4

Table 1.

Primary immunodeficiency disorders associated with eosinophilia

PID	Genetic defect/subtype (s)	Functional defect	Inheritance	AEC range (× 10⁹/L)^b
Combined immunodeficiencies
ADA Deficiency	Late onset ADA	Elevated lymphotoxic metabolites	AR	0.8–4.7
ZAP70 deficiency^a	ZAP70	Intracellular signaling abnormality	AR	9.5
CD3γ deficiency^a	CD3G	T-cell receptor expression defect	AR	0.2–0.7
MHC II deficiency^a	RFXANK	Impaired antigen presentation by APCs	AR	3–10
TCR α deficiency	TRAC	T-cell receptor generation	AR	0.08–2.5
MALT1 deficiency	MALT1	NF-kB activation failure	AR	Not specified
OS^a	RAG 1/2	T-cell receptor generation abnormality	AR	0.1–21.8
	IL7RA	Defect in IL-7 receptor α chain	AR	6.49
	IL-2RG	Cytokine receptor signaling abnormality	AR	15.56
	22q11.2	DiGeorge syndrome	AD	1.36– >15
	CHD7	Chromatin organization defects	AR	1.3–4.1
	LIG4	DNA DSB repair defect	AR	2.12
	ADA	Elevated lymphotoxic metabolites	AR	0.85–1.73
	RMRP	Mitochondrial RNA processing defects	AR	Not specified
	CARD11	TCR/BCR induced NF-kB activation failure	AR	Not specified
	ARTEMIS	DNA repair defect	AR	Not specified
Combined immunodeficiencies with associated or syndromic features
Ataxia-Telangiectasia	ATM	DNA break repair defect	AR	Not specified
WAS^a	WAS	Actin cytoskeleton abnormality	AR	0–8.32
NS	SPINK5	Pro-Th2 and stratum corneum detachment	AR	Not specified
HIES	STAT3 ^a	Intracellular signaling abnormality	AD	0.029–54.81
	Tyk2	Cytokine signaling abnormality	AR	0.29–0.8
	DOCK8 ^a	Cytoskeletal organization defects	AR	0.245–37.88
Predominantly antibody deficiencies
CVID	Unknown	Unknown	Variable	0.385–1.562
CD40L deficiency	CD40L	Defects in Ig isotype switching	XL	0.5–1.5
CD40 deficiency^a	CD40	Defects in Ig isotype switching	AR	0.8–13.5
Selective IgA deficiency		Unknown		0.672
Diseases of immune dysregulation
IPEX^a	FOXP3	Dysfunction of regulatory Tcells	XL	0.236–8.423
ALPS^a	TNFRSF6	Failure of apoptosis	AD	1.33–35.46
ALPS^a	Other^c	Failure of apoptosis		Not specified
Congenital defects of phagocyte number or function or both
Kostmann disease	HAX1	Control of apoptosis	AR	0.09–1.30
Cyclic neutropenia	ELANE	“Gain-of-function” in the neutrophil granule	AD	Not specified
STAT1 deficiency^a	STAT1	IFN-γ signalling defect	AD	11.1
PLS	FPR1	Defective chemotaxis of PMNs	AR	0.96–2.156
CGD	CYBB	Neutrophil oxidative burst deficiency	XL	0.786
Defects of innate immunity
EDA-ID	NEMO	Failure of NEMO-induced NF-κB activation	XL	1.45
CARD9 deficiency	CARD9	Selective defect in defense against fungal infection	AR	Not specified
Autoinflammatory disorders
NOMID/CINCA	CIAS1	Defect in regulation of inflammation and apoptosis	AD	0.728–3.441
Blau syndrome	NOD2	NF-κB activation causing excess inflammatory cytokine	AD	Not specified
Not classified by IUIS
PGM3 deficiency	PGM3	Possibly signalling defects	AR	0–3.6
Roifman syndrome	RNU4ATAC	Disrupted minor intron splicing	AR	Not specified

^aConditions with severe eosinophilia

^bThe absolute eosinophil count(s) with further details and source references in Additional file 1: Table S1

^c TNFSF6 or CASP8 or CAS10