[CIS PIDD] advise on an 11mo old male

[Ramsay L Fuleihan]

I agree that the T cell counts fit with SCID, but the presence of tetanus antibody at 10-11 months of age is very unusual.  The CD4 T cell percentage is severely depressed, so I think it is important to rule out MHC Class II deficiency although it would be very unusual to have tetanus antibody and for all lymphocytes to be low.

Ramsay

Ramsay Fuleihan, MD
Associate Professor of Pediatrics
Northwestern University's Feinberg School of Medicine
Division of Allergy and 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: rfuleihan at luriechildrens.org<mailto:rfuleihan at luriechildrens.org>
e-mail: r-fuleihan at northwestern.edu<mailto:r-fuleihan at northwestern.edu>

On Jun 22, 2012, at 7:53 PM, Cowan, Mort wrote:

I agree with Kate that knowing the genotype is not essential and I don’t know all the PIDs in the Amish but you would definitely want to make sure this wasn’t a defect associated with a DNA repair abnormality, especially if you were contemplating a conditioning regimen. Of course, Artemis is coded on chromosome 10.  I don’t quite understand the mitogen results. Are they by flow cytometry and what are the units?  I agree with looking for maternal cells.  Mort

Morton J. Cowan, M.D.
Professor of Pediatrics
Chief, Allergy, Immunology, and Blood and Marrow Transplant Division
UCSF Children's Hospital, Room M659
505 Parnassus Ave
San Francisco, CA 94143-1278

Phone: 415-476-2188
FAX: 415-502-4867

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From: pagid-bounces at list.clinimmsoc.org<mailto:pagid-bounces at list.clinimmsoc.org> [mailto:pagid-bounces at list.clinimmsoc.org]On Behalf Of Sullivan, Kathleen
Sent: Friday, June 22, 2012 2:45 PM
To: pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>
Subject: Re: [CIS PIDD] advise on an 11mo old male

Amish have a founder mutation for IL-7Ra deficiency.  His T/B/NK phenotype isn't perfect but I would send it.  Remember that you don't need a mutation to move forward with BMT which is indicated for your patient.

On Jun 22, 2012, at 2:34 PM, Chong, Hey wrote:



Dear all,
We  have a difficult case and I would love to hear some thoughts and advice.
My main questions are :

Is this CID/SCID?
Would you transplant or send for further genetic testing first?

The case:

11mo FT amish male born of consanguineous parents (second cousins) with history of FTT frequent AOM, no history of rashes, no LAD, no HSM
hospitalized for respiratory distress at 10mo, found to have pseudomonas and haemophilus positive blood cultures  and metapneumovirus +respiratory culture.
He was pancytopenic thought to be due to sepsis.  Thrombocytopenia resolved but he continued to be anemic and lymphopenic with most recent lymphocyte count of 550.  Pan low lymphocyte subsets   % T-Cells (CD3) 87, (CD3) 143; %(CD4) 9; (CD4) 15; %(CD8) 72; (CD8) 118; %(CD19) 9; (CD19) 15; % (CD16/CD56) 2; Total (CD16/CD56) n 3

He also has IgG 200-300, IgM 34-55 and a rising IgA as high as 652.  Dx with IgA kappa monoclonal gammopathy,
He had +titers to tetanus vaccine.  We did flow cytometry looking at naïve T cell markers told that of his lympocytes, these were the percentages:
        CD3+ 56
         CD3+/CD4+ 10
         CD3+/CD45RA+ 92
         CD4+/CD45RA+ 54
         CD4+/CD45RA+/CD62L+ 54

We recently sent for TRECS with values all below 7 copies/uL after repeating test on two different samples.  He was very lymphopenic at the time.

Mitogen assay done as well:

         Max Prolif PWM, CD45 n 5.5
         Max Prolif PWM, CD3 n 6.2
         Max Prolif PWN, CD19 n 6.7
         Max Prolif PHA, CD45 n 25.2
         Max Prolif PHA, CD3 n 28.4
He also initially had abnormal neutrophil oxidative burst assay with no activity, repeat showed population with and without activity.
Sweat test normal, he was bronched and negative for Pneumocystis
Do you think it is possible that he has a leaky SCID or could this be something else that we are missing?  What do we make of the IgA gammopathy?  He had a bone marrow biopsy that was not suggestive of cancer but did show some hemophagocytosis, however he did not meet dx criteria for HLH.
ADA and PNP assay sent to Duke, normal.
genetic SNP array found 16p11.2 duplication, associated with autism and developmental delay.  Also showed significant homozygosity  in regions of Ch1,2 and 10, and I am getting more information on these specific genes soon.


Any thoughts at all would be greatly appreciated.
Thank you very much
Hey Jin Chong

Hey Jin Chong MD PhD
Assistant Professor of Pediatrics
Division of Pulmonary Medicine, Allergy & Immunology
Children's Hospital of Pittsburgh of UPMC
One Children's Hospital Drive
4401 Penn Avenue
Pittsburgh, PA 15224
tel 412-692-7885
fax 412-692-8499





Sullivan, Kathleen, MD PhD
Professor of Pedaitrics
Wallace Chair of Pediatrics
Division of Allergy Immunology
The Children's Hospital of Philadelphia
ARC 1216
3615 Civic Center Blvd
Philadelphia, PA 19104
sullivak at mail.med.upenn.edu<mailto:sullivak at mail.med.upenn.edu>




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