[CIS PIDD] [cis-pidd] Heterozygous JAK3 variant

[CIS-PIDD]

Colleagues:

I am following a 10month-old girl who had a positive NBS for SCID, TREC = 4 (normal > 22 copies/mcL).  T-cells are low in number and %: 788 (28%); B-cells and NK cells are elevated 766 (28%) and 1174 (43%), respectively.

Mitogen responses are normal as is tetanus-specific LPA.  Immunoglobulins are normal and antibodies to tetanus toxoid and Hib are protective.

On exam the baby appears normal.

She had a SCID gene panel (all we could afford) that showed a heterozygous variant in JAK3 c.2452G>A (p.Glu818Lys).

Is it likely that this variant is related to the baby's relative T-lymphopenia?

I would greatly appreciate any insights.  Thank you.

Joe Church
Children's Hospital Los Angeles


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