Leaky SCID

Classification:CD3 T cells/ mLProliferationMaternal engraftment Y/NMolecular testingClinical Presentation
Definite300-1500, few naive T cells, oligoclonal T cells or poor T cell diversity10-50% normal PHANoUnknown or not done
Definite300-1500, few naive T cells10-50% normal PHANoConsistent with SCID^
Possible300-1500, few naive T cellsUnknown or anyNoUnknown or not done
Definite300-1500, few naive T cellsUnknown or anyNoConsistent with SCID^
PossibleAny number10-30% normal PHA or
Absent to Candida/TT
NoUnknown or not done
DefiniteAny number10-30% normal PHA or
Absent to Candida/TT
NoConsistent with SCID^
^ Consistent with Leaky SCID: Two pathogenic variants in a known SCID gene known to be associated with leaky SCID (previously reported or in a gene previously associated with a combined immune deficiency ) or one pathogenic variant in SCID gene on X chromosome in a male; ruled out 22q11 deletion; ruled out heterozygous TBX1 variants; ruled out homozygous or compound heterozygous FOXN1 mutations