Table 1 Primary immunodeficiency disorders associated with eosinophilia

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

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