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

[Cowan, Mort]

Have you looked for maternal engraftment although I think a leaky SCID is more likely?  Mort

Morton J. Cowan, M.D.
Professor of Pediatrics
Chief, Allergy, Immunology, and Blood and Marrow Transplant Division
UCSF Children's Hospital, Room M659
505 Parnassus Ave
San Francisco, CA 94143-1278

Phone: 415-476-2188
FAX: 415-502-4867

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From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Sriaroon, Panida
Sent: Wednesday, April 04, 2012 7:00 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] 10yo with lymphopenia and chronic lung disease


Hi Mort, the mitogen responses are low to PHA, ConA and Pokeweed. For example, her PHA response is 4,900 (ref range >93,000). Getting fibroblast samples is something to consider.



Jack, the only CBC she had was from 2007 and ALC was 700. No lymphocyte subsets were done until last month. Her previous CXR and chest CT from 2009 only showed diffuse prominent lung markings. We do not have the CT images to review at this time, all of this are from the medical notes. Pt's PFTs have been persistently abnormal, showing moderate to severe airway obstruction and restriction (results below). The reversibility tests and lung volume measurements have not been done, not sure why. Will admit her for an open lung biopsy and hopefully we can get the labs that everyone suggested here.



Thanks again for all inputs.

Panida



PFTs from 2009.

[cid:image001.jpg at 01CD123B.9EC7B130]



This one is from last month.



[cid:image002.jpg at 01CD123B.9EC7B130]





-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org<mailto:pagid-bounces at list.clinimmsoc.org> [mailto:pagid-bounces at list.clinimmsoc.org]<mailto:[mailto:pagid-bounces at list.clinimmsoc.org]> On Behalf Of Routes, John
Sent: Tuesday, April 03, 2012 7:05 PM
To: pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>
Subject: Re: [CIS-PAGID] 10yo with lymphopenia and chronic lung disease



Panida

I have a few questions---Has the patient always been lymphopenic? Do you have prior CBCs or lymphocyte subset analysis? Is the patient on immunosuppressives, in particular steroids (which can cause a profound lymphopenia of both B and T cells even on relatively small doses). In regard to the lung disease-Do you have complete pulmonary function tests including plethysmography (lung volumes, Dlco, pre-post bronchodilator response)? Is the diagnosis of "asthma" tentative or do you have evidence of reversible obstructive disease? Can you describe more fully the extent of lung involvement by CT of the chest. For example, we have seen cases of marked T cell lymphopenia associated with marked lung parenchymal lung disease characterized by lymphocytic infiltration-this can occur fairly commonly with (CVID) or without immunodeficiency (sarcoidosis).



Another question is whether the lung disease has contributed to the FTT or if it is secondary to an immunodeficiency. The fact that she can make specific Ab to pneumococcus and  diptheria I think would argue against a leaky SCID, although I defer to Kate and Gigi as they have much more expertise in this area than I do. Assuming the patient can tolerate it, I believe an open lung biopsy is essential in this case. I would also suggest TCR spectratyping to look for oligoclonality---the best way now is by deep DNA sequencing, but conventional spectratyping would be fine to answer the question of leaky SCID.



Sincerely

Jack Routes







John M. Routes, MD

Chief, Section of Allergy and Clinical Immunology Co-Director, Clinical and Translational Science Institute of Southeast WI Professor of Pediatrics, Medicine, Microbiology and Molecular Genetics Department of Pediatrics Children's Hospital of Wisconsin Medical College of Wisconsin

9000 W. Wisconsin Ave.

Milwaukee, WI  53226-4874



Phone: 414-456-4802; 414-266-6997

Fax: 414-456-6487 (Clinical)

Fax: 414-456-6323 (Laboratory)

Email: jroutes at mcw.edu<mailto:jroutes at mcw.edu>









________________________________

From: "Sriaroon, Panida" <psriaroo at health.usf.edu<mailto:psriaroo at health.usf.edu>>

Reply-To: "pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>" <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>

Date: Tue, 3 Apr 2012 11:48:01 -0500

To: "pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>" <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>

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



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.

[cid:3416321105_5560998]

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




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