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Table 3 Table of differential diagnoses

From: FOXN1 deficient nude severe combined immunodeficiency

Disease Genetic defect(s) Orphanet Number Typical clinical phenotype Thymus Immunophenotype Refs.
T B NK
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, 8089]
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, 9093]
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, 96100]
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, 104107]
  1. Key: Ref. References, SCID severe combined immunodeficiency, AR autosomal recessive, AD autosomal dominant, XL x-linked, AU alopecia universalis, OS Omenn syndrome, ↑ increased, ↓ decreased, ↔ normal, FTT failure-to-thrive, EBV Epstein-Barr virus, CID combined immunodeficiency, CD cluster of differentiation, Ig immunoglobulin, DGS DiGeorge syndrome