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Table 1 Table of reported cases of FOXN1 deficiency

From: FOXN1 deficient nude severe combined immunodeficiency

Patient (Sex) Mutation Ethnic origin Clinical Phenotype Immunological Phenotype Treatment Outcome Ref.
Congenital AU Nail dystrophy Recurrent Infections OS FTT Other Total lymph-ocytes T B NK
1 (F)
Sib. of patient 2 		R255X Acerno, Southern Italy + + + +
(2 m) 		+ (2 m) - Bilateral epicanthic folds ↑ ↓
- Greater ↓ in CD4 vs. CD8
- Abnormal proliferation
- Absent thymus on CXR 		↔
- Defective Ab production 		↔ Supportive Died aged 12 m (resistant bronchopneumonia) [1, 2]
2 (F)
Sib. of patient 1 		R255X Acerno, Southern Italy + + +
- Pyogenic
- Respiratory tract 		Mild
(2 m) 		+ - Bilateral epicanthic folds ↔ ↓
- Greater ↓ in CD4 vs. CD8
- Abnormal proliferation
- Absent thymus on CXR 		↔ ↔ HLA matched Sib. BMT 5 m 6y post BMT:
- Failed to reconstitute naïve CD4 T-cells
- Abnormal T-cell proliferation & TCR repertoire
- But infection free
- Persistent AU and nail dystrophy 		[1, 2, 30]
3 to 6 R255X Acerno, Southern Italy +   +          Died early childhood (severe infections) [25]
7 (F) R255X Portugal + + +
- Atypical mycobacteria
(BCG, M. bovis)
- Rotavirus 		Mild
(3 m) 		+   ↔ ↓
- Greater ↓ in CD4 vs. CD8
- ≤1% naïve CD4 T-cells
- Oligoclonal TCR repertoire
- ↓TRECs
- Abnormal proliferation 		↔
- Defective Ab production 		↔ - HLA mismatched thymus transplant (14 m)
- Ig infusions (pre-transplant) 		5y post thymus transplant:
- T-cell compartment successfully reconstituted
- Infection free
- Normal Ab production 		[23, 63]
8 (M) R320W France/
Africa 		+ + +
- Respiratory tract
- HHV6 		    ↓ ↓
- Absent T-cells & proliferation 		↓ ↔ - HLA mismatched thymus transplant (9 m)
- Ig infusions (pre-transplant) 		3y post thymus transplant:
- T-cell compartment successfully reconstituted
- Infection free
- Normal Ab production
- Thyroid autoimmunity & vitiligo
- Persistent AU and nail dystrophy 		[23, 27]
9(F) S188fs Lebanon +    +
(1 m) 		    ↓
- ≤1% naïve CD4 T-cells
- Absent recent thymic emigrants
- Abnormal proliferation 		↔ ↔ HLA matched sib. HSCT (5 m) Died (complications post HSCT) [26]
  1. Key: AU alopecia universalis, OS Omenn Syndrome, FTT failure to thrive, T T-cells, B B-cells, NK NK-cells, Ref. References, F female, M male, Sib sibling, + present, − absent, m months old, y years, ↑ increased count, ↓ decreased count, ↔ normal count, CD cluster of differentiation, CXR chest x-ray, Ab antibody, HLA Human leucocyte antigen, BMT bone marrow transplant, TCR T-cell receptor, BCG Bacillus Calmette–Guérin, HHV6 Human herpes virus 6, TRECs T-cell receptor excision circles, Ig Immunoglobulin, HSCT Haematopoietic stem cell transplant
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172