[CIS-PAGID] 10yo with lymphopenia and chronic lung disease

[Sullivan, Kathleen]

RAG/Artemis etc.  I think these leaky SCIDs are a lot more common than is appreciated.

On Apr 3, 2012, at 12:48 PM, Sriaroon, Panida wrote:


> Dear all,

>  

> I have an interesting 10yo Caucasian female who has had chronic lung disease with severe lymphopenia. Other history includes recurrent ear and sinus infection and failure to thrive (wt 1%ile, height 10%ile). She has been diagnosed with severe persistent asthma for the past several years. Lately, was noted to have clubbing of digits and hypoxia (SpO2 85% room air). She has never had bronchoscopy to date. Her immunologic profile is as following:

>  

> IgG 1020, IgA 573, IgM 157 mg/dL. Tetanus titer 0.59, Diphtheria titer 0.07, pneumo titers protective in 4 serotypes.

> <image003.jpg>

> Absolute lymphocyte count of 363 with WBC of 4500, leukocyte of 7%, neutrophils being 81%.  Absolute CD3 was 70. Absolute CD4 of 35. Absolute CD8 of 18. Absolute CD19 of 62. Absolute natural killer cell of 224. The T4-to-T8 ratio was 2. Mitogen study shows low response to PHA, ConA and Pokeweed. These were drawn when off oral steroids. In 2007, her ALC was around 600.

>  

> Per report, a chest CT showed bilateral peribronchial nodular opacities with hazy ground glass opacities in the bilateral upper lobes. No comments on thymus.

> Sinus CT showed mucosal thickening and maxillary sinus bilaterally.

>  

> Recent work up is negative for HIV infection, CF, ciliary dyskinesia, FISH for DiGeorge, DHR, and TB-quantiferon gold. Nasopharyngeal viral culture is negative for common virus. ADA and PNP levels are normal. She is currently on Septra and azithromycin prophylaxis as well as asthma inhaler meds.

>  

> Any comments on the Dx and work ups? Since she is making antibodies we are thinking Nezelof’s syndrome and leaky SCIDs. Genetic testings for AR SCID (Jak-3, IL-7R, RAG-1/2, Artemis, CD3delta, CD3epsilon) were sent to Correlagen and those are still pending. Now we are planning to admit her for a lung/lymph node biopsy and evaluation for possible BMT. Is it possible that her T/plasma cells are accumulating in lungs or other organs? Has anyone seen a case similar to this pt?

>  

> Any thoughts are appreciated.

> Panida

>  

> Panida Sriaroon, MD

> Assistant Professor

> Division of Allergy, Immunology, and Rheumatology

> USF/All Children's Hospital

> Beeper 727.825.4379

> Office 727.553.3521

> E-mail:psriaroo at health.usf.edu

>  


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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