[CIS PIDD] ? SCID newborn

[Church, Joseph]

Thank you all for your quick responses.  

As I indicated flow is pending (drawn today).
ADA will be the first thing I get when I see the baby.

Joe Church

-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Notarangelo, Luigi
Sent: Friday, September 28, 2012 6:02 PM
To: <pagid at list.clinimmsoc.org>
Cc: pagid at list.clinimmsoc.org
Subject: Re: [CIS PIDD] ? SCID newborn


Yes, Rob is right. There is often marrow toxicity in ADA def, and this may cause a variable degree of neutropenia. Also, ADA def pts may have immune dysregulation with elevated Eos, and even high IgE

Gigi

Sent from my iPhone

Luigi D. Notarangelo, MD
Jeffrey Modell Chair of Pediatric Immunology Research Division of Immunology Children's Hospital Boston Professor of Pediatrics and Pathology Harvard Medical School Karp Building, Room 10217
1 Blackfan Circle
Boston, MA 02115

Tel: (617)-919-2276
Fax: (617)-730-0709


On Sep 28, 2012, at 8:53 PM, "Sokolic, Robert (NIH/NHGRI) [E]" <sokolicr at mail.nih.gov> wrote:


> 

> 

> We had some data in Blood earlier this year that the higher the dAXP's 

> on presentation, the lower the ANC, and some of our patients were 

> frankly neutropenic at presentation. We also have seen eosinophilia in 

> our patients, sometimes as a reaction to infection where one would 

> expect neutrophilia.

> Rob Sokolic

> NHGRI

> 

> On 9/28/12 8:41 PM, "Notarangelo, Luigi"

> <Luigi.Notarangelo at childrens.harvard.edu> wrote:

> 

>> 

>> Dear Joe:

>> 

>> This is very unlikely to be reticular dysgenesis, because RD patients 

>> typically have an ANC of 0. However, if needed, I can help with 

>> genetic testing for AK2 (but would suggest to postpone this, because 

>> RD is unlikely). ADA deficiency is very very possible. Extreme 

>> lymphopenia (often involving all subsets) is very common in ADA def. 

>> I would recommend immediate testing for this. Mike Hershfield at Duke 

>> can be very helpful as he would look at ADA and dAXP levels and could 

>> also search for mutation.  Does she have elevated LFTs?

>> Although she is obviously extremely lymphopenic, it would be 

>> important to know what those 84 lymphs are.

>> 

>> Best,

>> 

>> Gigi Notarangelo

>> 

>> Sent from my iPhone

>> 

>> Luigi D. Notarangelo, MD

>> Jeffrey Modell Chair of Pediatric Immunology Research Division of 

>> Immunology Children's Hospital Boston Professor of Pediatrics and 

>> Pathology Harvard Medical School Karp Building, Room 10217

>> 1 Blackfan Circle

>> Boston, MA 02115

>> 

>> Tel: (617)-919-2276

>> Fax: (617)-730-0709

>> 

>> 

>> On Sep 28, 2012, at 7:51 PM, "Church, Joseph"

>> <JChurch at chla.usc.edu<mailto:JChurch at chla.usc.edu>> wrote:

>> 

>> 

>> Colleagues:

>> 

>> I will be seeing a patient who was identified by our SCID newborn 

>> screening program.

>> 

>> Currently 4 weeks of age, 33w gestational age twin B (likely not 

>> identical).  No report of rash, adenopathy or organomegaly.

>> 

>> 

>> *         Low TREC screen (4 copies vs normal of >25)

>> 

>> *         CBC:

>>           Normal hematocrit and hemoglobin.

>>           Normal platelet count.

>>          WBC 1,400/mcL - 34% neutrophils, 6% lymphocytes, 20% 

>> monocytes, 34% eosinophils.

>> 

>> *         Flow cytometry pending.

>> 

>> Since the absolute lymphocyte count is so low (84/mcL), I don't think 

>> the flow will help much.

>> 

>> Although reticular dysgenesis is associated with normal red blood 

>> cells and platelets, I don't think that the patient's monocyte and 

>> eosinophil counts are consistent with this diagnosis.

>> 

>> Can ADA deficiency present like this?

>> 

>> What other PIDD(s) might present with both profound lymphopenia and 

>> neutropenia in a female?

>> 

>> Thank you for your help.

>> 

>> Joe Church

>> Children's Hospital Los Angeles

>> 

>> 

>> 

>> 

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> 

> The CIS-PIDD listserv is supported by:

> 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!

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

P: +1.414.224.8095
E: info at clinimmsoc.org

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