[CIS PIDD] advise on an 11mo old male

[Sullivan, Kathleen]

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




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