Typical SCID

Classification:CD3 T cells/ mLProliferation to PHAMaternal engraftment Y/NMolecular testingClinical Presentation
Definite<300 autologous T Cells, undetectable or very few naive T cells<10% of normalYesConsistent with SCID^
Definite<300 autologous T Cells, undetectable or very few naive T cells<10% of normalYesUnknown or not done
Definite<300 autologous T Cells, undetectable or very few naive T cellsUnknown or anyYesConsistent with SCID^
DefiniteAny number<10% of normalYesConsistent with SCID^
Definite<300 autologous T Cells, undetectable or very few naive T cells<10% of normalNoConsistent with SCID^
Probable<300 autologous T Cells, undetectable or very few naive T cells<10% of normalNoUnknown or not done
ProbableAny number<10% of normalNoConsistent with SCID^
ProbableAny number<10% of normalYesUnknown or not done
ProbableAny numberUnknown or anyYesNone or inconclusive
ProbableAny numberUnknown or anyYesConsistent with SCID^
Possible<300 autologous T Cells, undetectable or very few naive T cells<10% of normalUntested or unknownUntested or unknownUntested or unknown
Possible<300 autologous T Cells, undetectable or very few naive T cellsUnknown or anyNoUnknown or not done
Possible<300 autologous T Cells, undetectable or very few naive T cellsUnknown or anyNoConsistent with SCID^
Probable<300 autologous T Cells, undetectable or very few naive T cellsUnknown or anyYesUnknown or not done
PossibleAny numberUnknown or anyNoConsistent with SCID^
PossibleAny number<10% of normalNoNone or inconclusive
UncertainAny numberUnknown or anyNoUnknown or not done
^ Consistent with SCID: Two pathogenic variants in a known SCID gene; 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