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SCID (DiGeorge Syndrome (No thymus, No T cells, TBX1 Deletion), T - B - NK…
SCID
DiGeorge Syndrome
No thymus
No T cells
TBX1 Deletion
T - B - NK +
RAG1/RAG2
Can't rearrange T and B cells
Omenn Syndrome
"leaky SCID"
Some
rag
but not enough
Restricted T repertoire
Defect in self tolerance
Not enough variability in T
Low AIRE expression
T - B + NK +
Defect in CD3 signalling
Nothing beyond CD4/CD8 DP
Tregs don't develop
T - B + NK -
X-linked
IL2RG mutation
Gamma subunit for IL receptors
T cells don't respond to growth factors
NK cells don't respond to growth factors
B cells technically fine but aren't functional without T cells
T- B + NK -
Autosomal recessive
Mutation in Jak3 gene
T and NK can't respond to growth factors
T - B + NK -
T - B - NK -
ADA Deficiency
Autosomal recessive
Accumulation of dATP
Inhibits ribonucleotide reductase
Toxic to developing T and B cells
Treatments
Supplement ADA
HSCT
Susceptible to