[CIS PIDD] [cis-pidd] Lymphopenia in mosaic turner syndrome

[CIS-PIDD]

Greetings everyone,

We have an odd case and were curious if anyone has encountered anything similar.

Our division has been following an 8 month old with mosaic Turner syndrome (with two detectable lineages: 45X and 47XXX) who came up positive on the TREC screen in Virginia (CT 36.5, so not in the critical range).  She had fairly significant coarctation requiring repair in the first week of life, and the recovery was complicated by a chylothorax.

Workup at 5 months of age was as follows:

WBC: 11.9 K/mcL

Absolute CD19: 1470 cells/cumm
Absolute CD3: 1112 cells/cumm
Absolute CD3+CD4+: 865 cells/cumm
Absolute CD3+CD8+: 230 cells/cumm
Absolute NK: 466 cells/cumm

IGA: 35 mg/dL
IGE result: 3
IgG: 334 mg/dL
IgM: 73
Repeat TRECS (Mayo): 2139 copies per 10E6 CD3+ cells

We had her receive inactivated vaccines and rechecked at 8 months:

IgG 675 mg/dl

IgA 34 md/gl

IgM 117 mg/dl

Diphtheria IgG: 3 IU/ml

Tetanus IgG: 4.6 IU/ml

S pneumoniae IgG: 14/14 protective (most >10mg/ml)

Abs CD3: 914 cells/ul

CD3/CD4: 644 cells/ul

CD3/CD8 243 cells/ul

NK: 724 cells/ul

CD19: 1288 cells/ul

TRECS: 1648 copies/10E6 CD3+ cells
Mitogen were completely normal to PHA (167,000 cpm), ConA (181,000 cpm) and PWM (140,000 cpm).


Her only infections to date have been two respiratory infections, which have required brief hospitalizations, but have been about as uncomplicated as one can expect in a baby with cardiac disease.  She recently had re-coarctation and required cath dilation, but seems to be improving now.

Though we have been very wary about the possibility of another X-linked immune disorder, she seems to have idiopathic T-cell lymphocytopenia (or may have GI lymphatic loss - we have not checked as of yet).   Has anyone else seen a similar picture in Turner syndrome or 47XXX?  There seems to be nothing in the literature about this.

Thanks very much!
Mike



-------------------------

Michael D. Keller MD

Assistant Professor, Division of Allergy / Immunology

Center for Cancer and Immunology Research

Children's National Health System

111 Michigan Ave NW, M7745A

Washington, DC 20010

Clinic: 202.476.3016

Office: 202.476.5843

Fax: 202.476.2280

www.childrensnational.org

,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
Confidentiality Notice: This e-mail message, including any attachments, is for the sole use of the intended recipient(s) and may contain confidential and privileged information. Any unauthorized review, use, disclosure or distribution is prohibited. If you are not the intended recipient, please contact the sender by reply e-mail and destroy all copies of the original message.

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=3470951
or send a blank email to leave-3470951-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160211/0026743b/attachment.html>