[CIS PIDD] [cis-pidd] 10 yo girl with T cell cytopenia

[CIS-PIDD]

Dear all,
I would like to as your opinion about this patient:

10-year-old girl with low T cells, recurrent fevers, productive cough,
and malaise.
- h/o hypoplastic aortic arch, VSD, ASD, and L-SVC.
- Surgery performed at 5 dyas of age, large thymus was present and it
was removed.
- Tolerated live vaccines
- 3 CXR positive pneumonia (first at age 5 years).
- Chronic cough started at age 5. She was initially diagnosed with
asthma but cough did not respond to inhaled steroids or
bronchodilator.
- Recurrent fevers and worsening of cough started about1 year ago.
- Bronchoscopy: bronchomalacia (questionable).
- BAL culture was positive for h. flu (this was only one occasion,
repeat BAL were negative).
- BAL negative for Pneumocystis, fungi, nocardia, legionella, AFB.
- Respiratory viral pcr panel - negative x 3
- CT of the chest: multifocal consolidation and ground glass
opacities, peribronchial thickening, ecthasia of pulm artery,
- CT of the sinuses showed pansinusitis.
- She received multiple course of antibiotics. However, cough and
fever resolve spontaneously with or without antibiotics. She has not
been hypoxic.
- Genetic evaluation:
46, XX
FISH negative for 22q11.2 deletion
Whole exome sequencing: no diseae associated mutation

Immunologic evaluation:
- CBC w diff - normal
- QuIgs, IgE - normal
- Low T cells (CD3: 472, CD4: 379, CD8: 68), normal B and NK cells
- Naive CD4 50%
- Proliferative response - normal to PHA and tetanus
- Vaccine titers are all protective to protein and polysaccharide vaccines
- CH 50 - normal

I think low T cells are due to thymectomy, however, I cannot explain
recurrent fevers and productive cough. Anybody has any idea?

Thanks !

Yesim

Yesim Yilmaz Demirdag, MD
Assistant Professor of Pediatrics
Director of Immunodeficiency Clinic
Division of Allergy, Immunology and Rheumatology Columbia University
Medical Center
3959 Broadway Room: CHN 107
New York, NY 10032
phone: (212) 305 2300
fax: (212) 305 4538

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