[PAGID] Fwd: Re: lymphopenic infant

[John B. Ziegler]

Jan

A fascinating case. Although it doesn't fit any VODI case seen to 
date, the feature she shares are:

FTT
PCP
Low IgA and IgG
Normal proliferative responses

Of course, she hasn't developed VOD to date, she is lymphopenic and 
has high IgM.

2 of the last 3 infants were from non-consanguineous, non-Lebanese parents.

As the phonetype is clearly still expanding I think it would be worth 
considering.  We could look at sp110 and sp140 if you could send DNA.

John

A/Prof John B. Ziegler
Department of Immunology and Infectious Diseases
Sydney Children's Hospital
High Street, RANDWICK NSW 2031
Australia
Tel: (02) 93821515
Fax: + 61 + 2 + 93821580
Email: j.ziegler at unsw.edu.au


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>Subject: Re: [PAGID] lymphopenic infant

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>? eosinophilia.

>

>I think you must rule out ADA deficiency even though normal 

>proliferation makes this less likely.

>

>Melvin Berger, M.D., Ph.D.

>Professor of Pediatrics and Pathology

>Case Western Reserve University

>phone 216 844 3237

>

>Director, Jeffrey Modell Center for Primary Immune Deficiencies

>Division of Allergy-Immunology

>Rainbow, Babies and Children's Hospital

>University Hospitals of Cleveland

>RB&C Rm 504, MS 6008B

>11100 Euclid Ave.

>Cleveland, OH 44106

>

>________________________________

>

>From: pagid-bounces at list.clinimmsoc.org on behalf of Jan Sinclair

>Sent: Wed 4/30/2008 12:01 AM

>To: pagid at list.clinimmsoc.org

>Subject: [PAGID] lymphopenic infant

>

>

>

>Hi all

>

>I would appreciate any ideas about a patient:

>

>5 month old infant born in New Zealand. She presented to us at 4 

>months with failure to thrive, feeding difficulties and mild 

>respiratory signs and symptoms, with PCP on BAL. Mild thrush. No 

>nodes palpable and no hepatosplenomegaly.

>

>*       Indian parents (non consanguineous, and from different regions India).

>

>*       Ex 28 week gestation - uneventful neonatal course except for 

>significant lymphopenia at birth (0.4 x 109) which has persisted 

>since (0.4-0.7).

>

>*       Mild neutropenia in first few weeks which had resolved. 

>(Recurred this week with neutrophils 0.5)

>

>Only other clinical finding is marked microcephaly (35.6cm; 4 

>cm<3%). Not dysmorphic. Eye exam, hearing, head ultrasound all 

>normal and developmentally appropriate except for marked oral 

>aversion needing ng feeds.

>

>Other investigations:

>

>*       IgG 0.8g/l, IgA 0.4g/l, IgM 7g/l (was increased to 12g/l now 

>back down to 7 - not monoclonal).

>

>*       Biochemistry normal, uric acid normal, ADA awaited.

>

>*       T and B cell numbers markedly reduced (CD3 50%, 295, CD4:CD8 

>3.1, CD19 20%, 118). NK numbers normal (25%, 148).

>

>*       Proliferation to PHA and CD3 normal (CPM equal to control, 

>stimulation index ~80).

>

>*       No evidence T cell clonality looking at Vb by flow.

>

>*       No evidence maternal engraftment (clinically or chimerism).

>

>*       Karyotype normal XX.

>

>*       Wondered about Cernunnos but she is not radiosensitive with 

>radiation studies reported as "no increased breakage but a 

>subpopulation of lymphocytes with an odd appearance (condensed in 

>appearance - premature chromatid separation but no aneuploidy in 

>that subpopulation)".

>

>Clinically she is now well having finished treatment for PCP, on 

>prophylaxis and IVIG replacement. Any thoughts or comments about 

>possible underlying diagnosis / other investigations to pursue welcome.

>

>With thanks, Jan

>

>Dr Jan Sinclair

>

>Paediatric Allergy and Clinical Immunology

>

>Level 5, Starship

>

>Private Bag 92024

>

>Auckland, New Zealand

>

>

>

>Phone: +649 307 4949 #6429

>

>Fax: +649 307 8977

>

>Mob: 021 365 445

>

>E mail: JanS at adhb.govt.nz <mailto:JanS at adhb.govt.nz>

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