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

[Jyonouchi, Soma C]

I agree with Dr. Junker.  Dyskeratosis congenita patients can present with a B-NK-T+ phenotype so this should remain on the differential despite negative TERC, TINF2 testing.  Gene mutations are not identified in a large percentage of patients.  Measuring actual telomere lengths would be helpful in this case.


Soma Jyonouchi, MD
Children's Hospital of Philadelphia

________________________________
From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org] On Behalf Of Junker, Anne [Anne.Junker at phsa.ca]
Sent: Wednesday, September 21, 2011 7:14 PM
To: 'pagid at list.clinimmsoc.org'
Subject: Re: [CIS-PAGID] Leucopenia with no monocytes and low B cells

Dyskeratosis Congenita can also present with B lymphocyte deficiency.  I note the evolving thrombocytopenia.


Anne K. Junker, MD, FRCP(C)
Associate Professor, Pediatrics
Director, Clinical Immunology Service, BC Children's Hospital
Director, Clinical & Population Studies, Child & Family Research Institute
Co-Chair, Canadian Child & Youth Health Coalition
Director, Maternal Infant Child Youth Research Network of Canada/Reseau de Recherche en Sante des Enfant et des Meres (MICYRN)
K4-223 4480 Oak Street
Vancouver, British Columbia
Canada  V6H 3V4
phone: 604-875-3591
fax: 604-875-2414
email: ajunker at cw.bc.ca



From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Eleonora Gambineri
Sent: Wednesday, September 21, 2011 10:39 AM
To: pagid at list.clinimmsoc.org
Subject: [CIS-PAGID] Leucopenia with no monocytes and low B cells

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/¦ÌL, Neutrophils 26.6% (absolute value: 877/ ¦ÌL) 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/ ¦ÌL), T cells CD3+ 87% (av: 2310), T cells CD3+CD4+ 48% (av: 1270/ ¦ÌL), T cells CD3+CD8+ 22% (av: 580/ ¦ÌL), NK cells 4% (110/ ¦ÌL)
Genuary 2011

*         Bone Marrow Aspiration:  hypocellular for the age of the patient, dysmyelopoiesis
May 2011: fever + arthritis
*         WBC: 3200/¦ÌL, Neutrophils 21.7% (absolute value: 690/¦ÌL) Monocyte 0%, Hemoglobin 10.3 g/dl, platelet  153000/¦ÌL
*         Parvovirus B19 blood PCR: positive
*         Lymphocyte subsets:  B cells 7% (absolute value 176/ ¦ÌL), T cells CD3+ 92% (av: 2480/ ¦ÌL), T cells CD3+CD4+ 54% (av: 1457/ ¦ÌL), T cells CD3+CD8+ 27% (av: 742/ ¦ÌL), NK cells 1% (39/ ¦ÌL)

*         CD3+TCR¦Á¦Â+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/¦ÌL, Neutrophils 22.8% (absolute value: 563/¦ÌL) Monocyte 0.4%, Hemoglobin 13 g/dl, platelet  138000/¦ÌL
*         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-Unit¨¤ 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>
********************************************************************





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