[CIS PIDD] [cis-pidd] agammaglobulinemia

[Hauck, Fabian Dr.med.]

Hi Niraj!

Indeed this sounds like a microdeletion syndrome. Did you check for monocytes? Maybe the GATA2-containing region might be deleted.

Best wishes,

Fabian

Fabian Hauck, MD
Assistant Doctor
Pediatric Hematology and Oncology - Stem cell transplantation
Immunological Service
Dr. von Haunersches Kinderspital
Lindwurmstraße 4
80337 München, Germany
Tel: +49-(0)89-5160-7940
Fax: +49-(0)89-5160-4742
Email: fabian.hauck at med.uni-muenchen.de<mailto:fabian.hauck at med.uni-muenchen.de>
________________________________________
Von: Ramsay L Fuleihan [r-fuleihan at northwestern.edu]
Gesendet: Freitag, 15. März 2013 21:58
An: CIS-PIDD
Betreff: Re: [cis-pidd] agammaglobulinemia

Hi Niraj!

Have you looked at any other B cell markers such as CD20 because there are about 6% of the cells unaccounted for on flow cytometry and your patient does have some measurable immunoglobulin?  This would imply a problem with CD19 but it would not explain the near absence of NK cells or the other congenital anomalies.

I am not sure how easy it is to find deletions on whole genome sequencing, so you may want to send a microarray.

Best,

Ramsay

Ramsay Fuleihan, MD
Associate Professor of Pediatrics
Northwestern University's Feinberg School of Medicine
Division of Allergy & Immunology
Ann & Robert H. Lurie Children’s Hospital of Chicago
225 E. Chicago Avenue Box # 60
Chicago, IL 60611
Tel:     312-227-6010
Fax:    312-227-9401
e-mail: r-fuleihan at northwestern.edu<x-msg://308/Documents%20and%20Settings/rfuleiha/Application%20Data/Microsoft/Signatures/r-fuleihan@northwestern.edu>
rfuleihan at luriechildrens.org<mailto:rfuleihan at luriechildrens.org>
www.luriechildrens.org<http://www.luriechildrens.org/>



On Mar 15, 2013, at 3:28 PM, "Patel, Niraj C" <Niraj.Patel at carolinashealthcare.org<mailto:Niraj.Patel at carolinashealthcare.org>>
 wrote:

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>


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