[CIS PIDD] ? SCID newborn

[Notarangelo, Luigi]

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:

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> 

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