[CIS-PAGID] Leucopenia with no monocytes and low B cells
Sullivan, Kathleen
sullivak at mail.med.upenn.edu
Wed Sep 21 13:46:04 EDT 2011
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; 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; 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
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