[PAGID] ? XLA

[Luigi Notarangelo]

Dear Lisa,

I would not be impressed by lack of in vitro response to antigens in a
4-month-old infant.

I have seen cases of Pneumocystis jiroveci infection in the context of XLA,
so that is in fact a possibility (although 1% B cells is a bit too high for
XLA). However, the high IgM are unusual. NEMO, as suggested by Jordan, is a
good possibility that needs to be explored.
None of the cases I have seen with CD40L or with CD40 deficiency had very
low B cell numbers.


Gigi Notarangelo
Professor of Pediatrics, Harvard Medical School
Division of Immunology, Children's Hospital
Karp Building, 9th floor, Rm 09210
1 Blackfan Circle
02115 Boston, MA
tel: 617-919-2276
FAX:617-730-0709


On 1/26/07 6:59 AM, "Jordan Orange" <orange at mail.med.upenn.edu> wrote:


> Dear Lisa,

> 

> Are the T cells naive?

> 

> Also, do keep NEMO in mind...

> A subset truly do appear to have a HIGM phenotype (mostly c-terminus

> mutations).  B cells in a few patients have been on the low side.  CD40

> and CD40L expression (at least in the patients I have studied) is

> normal and mitogen responses are generally intact.

> Pneumocystis has occurred in a few.

> 

> Very best,

> 

> Jordan

> 

> Jordan Orange MD/PhD

> Assistant Professor of Pediatrics

> University of Pennsylvania School of Medicine

> Children's Hospital of Philadelphia, Division of Immunology

> 3615 Civic Center Blvd,  ARC-1016H

> Philadelphia, PA 19104

> (Voice) 267-426-5622

> (Fax) 267-426-5727

> www.orangelab.org

> 

> On Jan 25, 2007, at 4:47 PM, Lisa Kobrynski, MD, MPH wrote:

> 

>> I would like to get some suggestions regarding a patient.

>> This 4 month old male presented with respiratory distress, RSV -, and

>> deteriorated to the point of going on a high frequency ventilator.  He

>> improved

>> slightly on Bactrim, but really began to turn around on Pentamidine.

>> He had neonatal ITP,thought to be due to maternal alloantibody, which

>> resolved

>> by one month of age.

>> 

>> IgG 122, IgM 325, IgA <7. White blood cell counts have been low

>> 3,000-5,000.

>> CD40L and CD40expression are normal. Flow shows  88% CD3, 1% CD19 and

>> 10% NK.

>> Absolute CD3 1247, CD19 14.  He has good mitogen responses, no

>> response to

>> antigens.

>> 

>> With normal CD40L and CD40 expression does this rule out HIGM?

>> Could he have some partial expression of btk?

>> Or could this be an AR SCID?

>> Thanks for your input.

>> 

>> 

>> Lisa Kobrynski, MD, MPH

>> Assistant Professor of Pediatrics

>> Division of Allergy and Immunology

>> Emory University

>> 404-727-3575

>> 404-727-5045 (fax)

>> 

> 

>