[CIS PIDD] advise on an 11mo old male

[Conley, Mary Ellen]

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Mary Ellen

Mary Ellen Conley, MD
University of Tennessee College of Medicine
West Research Tower
LeBonheur Children's Hospital
50 N. Dunlap St.
Memphis TN  38103-2800
Tel     901-287-4657
FAX  901-287-4551
mconley at uthsc.edu<mailto:mconley at uthsc.edu>

-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Kobrynski, Lisa
Sent: Saturday, June 23, 2012 3:49 PM
To: <pagid at list.clinimmsoc.org>
Subject: Re: [CIS PIDD] advise on an 11mo old male

We had a child with a RAG1 defect with a monoclonal igA gammopathy. We were able to demonstrate the presence of maternal lymphocytes on lymph node biopsy using FISH staining for XX cells (in a male patient). He also had no rash.
Lisa

Sent from my iPhone

On Jun 22, 2012, at 10:50 PM, "Chong, Hey" <hey.chong at chp.edu> wrote:


> He was HLA typed which I assumed ruled out MHC deficiency but please correct me if that is not true.

>

> I also am fuzzy on the mitogen assay.  I don't know if its CFSE or not  but I assumed it was FACS of some sort and have emailed path for more info.  There are no units, just percentages.  Please forgive my lack of knowledge about how this is done.

>

> I also found the positive tetanus antibody to be absolutely bizarre 

> and would like for someone to explain how that happens in a 10 mo old 

> with SCID

>

> The presence of all lymphocyte subsets(albeit low) lack of opportunistic infection, no previous significant history of rash (which would have helped in making a dx of leaky SCID or maternal engraftment) high-ish percentage of CD45RA cells, and monoclonal IgA gammopathy all seem not like your run of the mill SCID in my very limited experience.

> Hearing others say that he should be transplanted does help a lot.

>

> I will see if we can send for genetic testing

>

> Thank you for the suggestions thus far and I welcome more.

>

>

> Hey

> Sent from my iPhone

>

> On Jun 22, 2012, at 9:23 PM, "Ramsay L Fuleihan" <r-fuleihan at northwestern.edu<mailto:r-fuleihan at northwestern.edu>> wrote:

>

> 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

>

> **Confidentiality Notice** This email communication and any attachments may contain confidential and privileged information for the use of the designated recipients named above. Distribution, reproduction or any other use of this transmission by any party other than the intended recipient is prohibited.

>

> 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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