Table 2. Alphabetized list of conditions and/or genetic defects associated with T cell lymphopenia identified by newborn screening (NBS) for severe combined immunodeficiency (SCID).
ATM (ataxia telangiectasia) | DOCK8 | Moesin deficiency | SMARCAL1 |
---|---|---|---|
BCL10 | IKBKB, | MTHFD1 | STAT5B |
BLC11B | IKBK2 | NOLA2 | STIM1 |
CARD11 | IL-21R | NOLA3 | STK4 (MST1) |
CD3e | ITK | ORAI1 (CRACM1) | TAP1/TAP2/tapasin |
CD3g | Jakobsen | PCFT | TCN2 |
CD3z | LCK/p56 | PRKDC | TCRa |
CD8A | MAGT1 (X-MEN syndrome) | PTPRC | Trisomy 21 (Down syndrome |
CHARGE (CHD67) | MALT-1 | RAC2 | TTC7A |
DOCK2 | MHCII* | RHOH | UNC119 |
ZAP70 |
*alias CIITA, RFXANK, RFX5, RFXAP.