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

[Nacho Gonzalez]

BAL could help in case of Pulmonary alveolar proteinosis (PAP) . There are
cases of PAP secondary to ADA (the enzyme assay is not always reliable so I
would go directly to gene sequencing) deficiencies (Grunebaum JACI 2012)

As the patient shows a Tlo Blo Nk+ phenotype, have you considered a leaky
DNA repair defect? Has the patient a normal clinical phenotype?

Regards

Luis Ignacio Gonzalez Granado
Immunodeficiencies Unit
Hospital 12 octubre. Madrid. Spain

2012/4/3 Sullivan, Kathleen <sullivak at mail.med.upenn.edu>


> 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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