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

[CIS-PIDD]

Dear Joe,

We have seen a number of heterozygous RAG and JAK3 mutations (at known positions of SCID genotypes when in homozygous state) in our local TREC+KREC newborn program in Germany.  However, these neonates were all positively screened for KRECs only - normal TRECs based on our cutoffs. Even thought that JAK3 shouldn`t give a B-minus phenotype in humans, this reminds of the mouse model where B cells are low too. All of our hz RAGs and JAKs reverted into normal TREC and KREC copies within 3 months - with the cellular function and clinical phenotypes to be judged on in progress..

Do you have B cell data from the date when the child was screened positive initially? Would you have a dot from the original Guthrie card to be tested for KREC copies in our lab?

BR, Stephan Borte

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Stephan Borte, MD, PhD
Associate docent - Div. of Clinical Immunology, F79
Karolinska University Hospital Huddinge
SE141-86 Stockholm
Sweden

Clinical Research Coordinator
Jeffrey Modell Diagnostic and Research Center for Primary
Immunodeficiencies at the Municipal Hospital St. Georg Leipzig
Delitzscher Strasse 141
D-04129 Leipzig
Germany

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Von: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Gesendet: Samstag, 16. Juli 2016 03:00
An: CIS-PIDD
Betreff: [cis-pidd] Heterozygous JAK3 variant

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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