[PAGID] 14 mo old with lymphopenia

[Junker, Anne]

Rule out XLP as cause of acquired B cell deficiency.

Anne Junker, MD
Associate Professor, Division of Infectious & Immunological Diseases,
Medical Director, Pediatric Specialty programs at BC Children's Hospital
Associate Director (Clinical), Child & Family Research Institute
Room K4-223
Children & Women's Health Centre 
4480 Oak Street, Vancouver, BC   V5H 3V4
( office: 604-875-3591 7 fax: 604-875-2414  * ajunker at cw.bc.c þ bcchildrens.ca 


-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Ashish Kumar
Sent: Monday, May 07, 2007 12:24 PM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] 14 mo old with lymphopenia


Dear Colleagues,

I need help with a patient and would appreciate your input.

This 14 month old boy developed bilateral pneumonia (interstitial pattern on
imaging) associated with pancytopenia. Bone marrow biopsy and aspirate was
normal. With antibiotics, his pneumonia and pancytopenia resolved except
that he is persistently lymphopenic with total WBC of 4-6 and ALC of 1.0.
Subset analysis shows no B cells (CD19 and CD20 were both zero). CD4:CD8
ratio and percentages are normal although absolute numbers are low, because
of absolute lymphopenia. IgG was low at 254, but IgA was 76 and IgM 29. T
cell mitogen stimulation was normal and he has reactive titres to Diphtheria
and tetanus. Levels of ADA and PNP were higher than normal (probably due to
regenerating cells).

He was healthy for the first 12 months of life, but in the last 3 months has
had 3 episodes of otitis and 2 episodes of pneumonia (including the present
one). Bronchoscopy did not show any anatomic abnormality and the cultures
grew candida albicans and Adenovirus. From his blood, viral PCRs grew HHV6
120,000 copies/ml. There is no family history of immune deficiency or other
illnesses. He is also not gaining weight - looks malnourished with distended
abdomen and loss of subcutaneous fat, but development seems ok. 

What do you think he has? BTK analysis is pending.


Ashish Kumar M.D., Ph. D.
Assistant Professor
Pediatric Hematology/Oncology/Blood and Marrow Transplantation
University of Minnesota