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

[Notarangelo, Luigi]

Agree with Kate. And we have seen accumulation of plasma cells in organs from patients with leaky SCIDs.

Gigi

Luigi D. Notarangelo, M.D.
Jeffrey Modell Chair of Pediatric Immunology Research in Boston
Director, Research and Molecular Diagnosis Program on Primary Immunodeficiencies
Division of Immunology, Children's Hospital
Professor of Pediatrics and Pathology, Harvard Medical School
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From: "Sullivan, Kathleen" <sullivak at mail.med.upenn.edu<mailto:sullivak at mail.med.upenn.edu>>
Reply-To: <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>
Date: Tue, 3 Apr 2012 13:00:58 -0400
To: <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>
Subject: Re: [CIS-PAGID] 10yo with lymphopenia and chronic lung disease

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.
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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<mailto:psriaroo at health.usf.edu>


Kate Sullivan, MD PhD
Professor of Pediatrics
ARC 1216 Immunology CHOP
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