Table 3 Table of differential diagnoses

Nude SCID

FOXN1 (AR)

ORPHA169095

Congenital AU, nail dystrophy, OS, early onset severe recurrent infections

Absent

↓

↔

↔

[2, 23, 26]

T-B + NK+ SCIDs

IL-7Rα (AR)

ORPHA169154

FTT, diarrhoea, rash, early onset severe recurrent infections.

Chronic EBV & EBV-driven lymphoma (coronin1a deficiency)

Present/Absent

↓

↔

↔

(may be ↓ in coronin1a & CD45 deficiency)

[49, 80–89]

CORO1A (AR)

ORPHA228003

CD45 (AR)

ORPHA169157

CD3δ (AR)

ORPHA169160

CD3ε (AR)

ORPHA169160

CD3ζ (AR)

ORPHA169160

CIDs

MHC II deficiency:

CIITA, RFX5, RFXAP, RFXANK (AR)

ORPHA572

FTT, chronic diarrhoea, autoimmunity, recurrent severe infections of respiratory and gastrointestinal tracts

ND

↓ CD4+ T-cells

↔

↔

[49, 90–93]

MAGT1 (XL)

ORPHA317476

Splenomegaly, chronic EBV viraemia, EBV-driven lymphoma, recurrent infections

ND

↓ CD4+ T-cells

↔

↔

[49, 94]

LCK (AR)

ORPHA 280142

FTT, diarrhoea, autoimmunity, recurrent severe infections

ND

↓ CD4+ T-cells

↔

↔

[49, 95]

Omenn Syndrome

E.g. IL-7Rα, RMRP (AR)

CHD7 (AD)

Atypical complete DGS

ORPHA39041

Erythroderma, eczema, diarrhoea, hepatosplenomegaly, lymphadenopathy, eosinophilia, high serum IgE, early onset severe recurrent infections

Normal/Hypoplastic/Absent

↔/↓

↔

↔

[49, 81, 96–100]

DiGeorge Syndrome

22q11.2 deletion

90% of cases

(de novo/AD)

10p deletions

ORPHA567

Heart defects, hypoparathyroidism, facial dysmorphism, developmental delay.

Variable infection susceptibility: No/mild infections (partial DGS) to severe recurrent infections (complete DGS)

Normal/Hypoplastic (partial DGS)/Absent (complete DGS)

↔/↓

↔

↔

[49, 69, 101]

CHARGE Syndrome

CHD7 (70% of cases)

(de novo or AD)

ORPHA138

Coloboma, heart defects, choanal atresia, retardation of growth/development, ear abnormalities/deafness.

Variable infection susceptibility

Normal/Hypoplastic/Absent

↔/↓

↔

↔

[49, 97, 102, 103]

Dyskeratosis Congenita

TERC, TERT, TINF2, RTEL1 (AD)

TERT, CTC1, RTEL1, WRAP53, NHP2, NOP10 (AR)

DKC1I (XL)

ORPHA1775

Alopecia, nail dystrophy, reticular hyper- and hypo-pigmentation, oral leukoplakia, recurrent sinopulmonary or opportunistic infections

ND

↔/↓

↔/↓

↔/↓

[49, 104–107]