[CIS-PAGID] Leucopenia with no monocytes and low B cells

[Eleonora Gambineri]

Thanks Mikko and Kate! GATA2 is a very good suggestion! I haven't  
thought about it because the kid is overall clinically well and he is  
young looking at  age of clinical presentation in literature.
I know Sophie well and I will contact her!
Thanks again.

Best wishes,
Ele
On 22/set/11, at 04:26, Seppänen Mikko wrote:


> Hi,

>

> I  tend to agree with Kate that GATA2 is a strong suspect, B-, NK-  

> and monocytopenia being the most consistent findings, along with  

> hypocellular myelodysplasia  (neutropenia thus caused by the  

> intrinsic stem cell defect and clinically thus pt getting aphtae?).  

> Have You checked his parents and siblings, whether any of them have  

> the same blood count findings? Any of the relatives having problems  

> with papillomaviruses, NTM mycobacteria, lungs (pulmonary alveolar  

> proteinosis), myelodysplasia? Did the patient have any signs of mild  

> dyserythropoiesis in BM samples? Lymphedema?

>

> Immunologic phenotype thus would best(?) be consistent with DCML/ 

> MonoMAC either caused by GATA-2 or by yet an unknown gene?

>

> From Italy, considering that fresh samples are needed that reach the  

> laboratory within 24h, You would need to check where You can send  

> viable samples:

> 1) in Europe, You might want to contact Matthew Collin and Sophie  

> Hambleton in Newcastle, they could check the patient's blood (level  

> of flt3 ligand), marrow and eventually fibroblast lines?

> 2) in the US, Steve Holland/NIH  might be of help? (and in  

> Philadelphia/Kate and Jordan; I did not quite get the expression "in  

> the barin", Kate?)

>

> In summary, like Kate, I would eventually aim to sequence GATA2...

>

> Yours

>

> Mikko Seppänen, Helsinki, Finland

>

>

> ________________________________________

> Lähettäjä: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc. 

> org] käyttäjän Sullivan, Kathleen [sullivak at mail.med.upenn.edu 

> ] puolesta

> Lähetetty: 21. syyskuuta 2011 20:46

> Vastaanottaja: pagid at list.clinimmsoc.org

> Aihe: Re: [CIS-PAGID] Leucopenia with no monocytes and low B cells

>

> Maybe I have GATA2 on the barin- but this seems like one who should  

> be sequenced as well.

>

>

> On Sep 21, 2011, at 1:39 PM, Eleonora Gambineri wrote:

>

> Dear all,

> I would like your inputs on the case below:

> 8y/o male

> Past medical history:

> •         recurrent otitis and pharyngitis until adenoidectomy (4  

> yo)

> •         4yo: chickenpox with normal course

> •         Since 6yo: episodes of aphthous stomatitis every2-3  

> months, sometimes associated with fever.

>

> •         August 2010: CBC -> leucopenia

> Laboratory work up:

> October 2010:

> •         WBC: 3300/μL, Neutrophils 26.6% (absolute value: 877/  

> μL) Monocyte 0%

> •         CMV, EBV, Toxoplasmosis: negative

> •         Celiac disease screening: negative

> •         ANA, ENA, pANCA: negative

> •         Anti-neutrophils Ab: negative

> •         Immunoglobulins: within normal range

>

> •         Lymphocyte subsets:  B cells 9% (absolute value 240/  

> μL), T cells CD3+ 87% (av: 2310), T cells CD3+CD4+ 48% (av: 1270/  

> μL), T cells CD3+CD8+ 22% (av: 580/ μL), NK cells 4% (110/ μL)

> Genuary 2011

>

> •         Bone Marrow Aspiration:  hypocellular for the age of the  

> patient, dysmyelopoiesis

> May 2011: fever + arthritis

> •         WBC: 3200/μL, Neutrophils 21.7% (absolute value: 690/ 

> μL) Monocyte 0%, Hemoglobin 10.3 g/dl, platelet  153000/μL

> •         Parvovirus B19 blood PCR: positive

> •         Lymphocyte subsets:  B cells 7% (absolute value 176/  

> μL), T cells CD3+ 92% (av: 2480/ μL), T cells CD3+CD4+ 54% (av:  

> 1457/ μL), T cells CD3+CD8+ 27% (av: 742/ μL), NK cells 1% (39/ μL)

>

> •         CD3+TCRαβ+CD4-CD8- (DNT cells): 1,3% of CD3+lymphocyte

> Bone Marrow Aspiration:

> •         Normal cellularity with decreased myeloid series

> •         TERC gene and TINF2 gene: no mutations

> •         FISH chromosome 7, 8 LSI 21 (21q22.13-q22.2): no  

> chromosomal abnormalities

>

> •         Parvovirus  B19 PCR: positive

> July 2011:

> •         WBC: 2470/μL, Neutrophils 22.8% (absolute value: 563/ 

> μL) Monocyte 0.4%, Hemoglobin 13 g/dl, platelet  138000/μL

> •         Parvovirus B19 blood PCR: negative

>

> •         Clinically well

>

> Currently ongoing: FAS induced apoptosis assay, B memory cell  

> phenotype, specific antibodies (i.e. anti-pneumococcus, anti-tetanus)

>

>

> Any thoughts/suggestions is really appreciated!

>

> Thanks.

>

> BEst wishes,

>

> Eleonora

>

> *******************************************************************

> Dott.ssa Eleonora Gambineri

> Ricercatore Universitario

>

> Universita' degli Studi di Firenze, Dipartimento di Scienze per la  

> Salute della Donna e del Bambino

> Ospedale Pediatrico "Anna Meyer", Dipartimento di Oncoematologia- 

> Unità TMO

> Viale Gaetano Pieraccini, 24

> 50139 FIRENZE

> Tel 055 5662405 (ufficio)

>       055 5662606 (reparto T.M.O.)

> Fax 055 4221012

> e-mail:  

> eleonora.gambineri at unifi.it<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it 

> <mailto:e.gambineri at meyer.it>

>

> Eleonora Gambineri, MD

> Researcher/Assistant Professor

>

> University of Florence, Department of Sciences for Woman and Child's  

> Health

> "Anna Meyer" Children's Hospital, Department of Haem/Onc-BMT Unit

> Viale Gaetano Pieraccini, 24

> 50139 FIRENZE

> ITALY

> Tel +39 055 5662405 (office)

>       +39 055 5662606 (BMT Unit)

> Fax +39 055 4221012

> e-mail:  

> eleonora.gambineri at unifi.it<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it 

> <mailto:e.gambineri at meyer.it>

> ********************************************************************

>

>

>

>

>

>

> Kate Sullivan, MD PhD

> Professor of Pediatrics

> ARC 1216 Immunology CHOP

> 3615 Civic Center Blvd.

> Philadelphia, PA 19104

> (p) 215-590-1697

> (f) 267-426-0363

>

>