[PAGID] lymphopenic infant

[Berger, Melvin]

? 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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