[CIS PIDD] [cis-pidd] agammaglobulinemia

[Patel, Niraj C]

Dear All,
I need some help with an interesting patient with agammaglobulinemia and several congenital anomalies:

This is a 4 year old girl born with multiple congenital anomalies including absent lower eyelids, deficient upper lids, macrostomia, syndactyly of lower extremities, club feet, microcephaly, macroglossia, hypoplastic genitalia.
She has seen Genetics in Philadelphia at 7 months of age and was initially diagnosed with Ablepharon Macrostomia Syndrome. She also saw craniofacial team there around the same time.
At 8 mo, she had bilateral lower lid coloboma status post repair with full thickness graft.
She had a G-tube placed from 9 days to 6 months
Her hearing screen has been normal. CT brain normal.
She developed several episodes of otitis, sinusitis around age 1.5-3.5 years . One ear culture grew Stenotrophomonas maltophilis. PE tubes were placed. I saw her shortly after for persistent fevers for 6 weeks.
LABS:
4/2/12: IgG 231 (413-1202)
IgA 7 (9-137)
IgM <6 (40-201)
Tetanus <0.1
Diptheria <0.1
Haemophilus <0.15
S Pneumoniae <1.3 to all 14 serotypes tested
Given pneumovax: repeat showed 0 of 14 serotypes protective
CD3T 3658 (93%)
CD4 1815 (49%)
CD8 1635 (44%)
CD4:CD8 ratio 1.1
CD16/56 22 (1%)
CD19 0 (0%)
NK cell function
50 :1 2% L
25 :1 1% L
12 :1 1% L
6 :1 0%
NK Lytic Units : 0.0 L (>2.6)
T cell stimulation to antigens :
Spontaneous : 119 (0-280)
Candida : 3240 L (>15289)
Tetanus : 316 L (>4761)
Whole genome sequencing: There were several heterozygous variants of unknown significance. No definite genetic diagnosis. Further investigation of variants is ongoing.
I am resending lymphocyte stimulation to mitogens as there was not enough blood previously.
A few considerations: 1) Autosommal recessive agammaglobulinemia?  2) SCID variant?
Thank you in advance for your thoughts.

Niraj



Niraj Patel, MD MS

Department of Pediatrics
Infectious Diseases and Immunology

Director, Immunology Clinic
Levine Children's Hospital
Carolinas Medical Center
PO Box 32861
Charlotte, NC 28232-2861

Tel:   (704) 381-6803
Fax:  (704) 381-6841
Appt: (704) 381-8840

Email: niraj.patel at carolinashealthcare.org<mailto:niraj.patel at carolinashealthcare.org>


________________________________

This electronic message may contain information that is confidential and/or legally privileged. It is intended only for the use of the individual(s) and entity named as recipients in the message. If you are not an intended recipient of this message, please notify the sender immediately and delete the material from any computer. Do not deliver, distribute or copy this message, and do not disclose its contents or take any action in reliance on the information it contains. Thank you.

---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=42952366
or send a blank email to leave-42952366-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/pipermail/pagid/attachments/20130315/8914a8bc/attachment-0001.htm>