[CIS PIDD] [cis-pidd] cryptococcal pneumonia and sepsis

[CIS-PIDD]

Dear colleague,
do not forget CD40L, and flow is not allways reliable to rule it out (Ig's
do not point to that,  but the best host for crypto is CD40L). Any other
T-cell defect may be involved
All the best
Nacho
Immunodeficiencies
Hospital 12 octubre
Madrid
Spain
El 22/4/2016 16:53, "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> escribió:

> Hi all:
>
>
>
> I have been consulted on a very interesting case and was hoping for ideas
> regarding the differential diagnosis as well as want to stimulate
> discussion amongst us.
>
>
>
> This child is a 20m Caucasian female of Russian (mother) and Puerto Rican
> (father) descent. She been healthy since birth with the exception of otitis
> media on a few occasions and has thrived. Over the last year, she has
> developed flat warts on her trunk and face (very scant, only 1-3 lesions at
> a time) but she currently has 1 lesion on the vermillion border of her
> lower lip.
>
>
>
> Last week, she went to a waterpark in Orlando (yes it is already that hot
> in Florida) and developed fever, lethargy, cough over the next 1-2 days.
> She presented to an outside ER in respiratory failure, was intubated, and
> sent to our facility where she underwent bronchoscopy. Cultures from
> bronchoscopy yielded Cryptococcus neoformans. Blood culture is negative but
> cryptococcal antigen which was initially negative is now 1:4000. She
> underwent LP that was normal (no pleocytosis) and cultures were negative.
>
> An endotracheal culture taken a day later showed Candida albicans but she
> has never had problems with thrush or CMC. She also has no history of
> atopy, autoimmunity,  or any other problems. She is doing poorly failing
> high frequency oscillatory ventilation and we are likely transitioning to
> ECMO today. On my limited exam (due to her clinical status), she has no
> hepatosplemomegaly, or lymphadenopathy (although lymph nodes are present).
>
>
>
> Family history:
>
> Mother is totally healthy as is maternal grandmorther
>
> Her full sister that is school age also has flat warts, but again very
> scant, just a few lesions at a time (although also on face and trunk).
>
> Maternal female first cousin is 12yo and being evaluated for presence of
> pulmonary nodules. She also has alopecia areata.
>
> Maternal great aunt died of leukemia (type unknown) at age 18.
>
>
>
> Her evaluation thus far has shown:
>
> Normal newborn screen
>
> HIV DNA PCR negative and Ab negative
>
> IgG 428 IgA 84 IgM 104 IgE 61.2
>
> CD3 2961 CD4 1811 CD8 1036 CD19 948 CD56 157 CD4RA 1747 CD8RA 859
>
> T cell proliferative studies are pending
>
> DHR normal
>
> Most recent CBC – ALC 3000 ANC 9770 AMC 650 AEC 30
>
> Peripheral smear normal
>
>
>
> Based on all of this, I’ve thought about GOF-STAT1, GATA2 (mostly because
> of the leukemia story), and NFkB defects and have sent out testing to
> evaluate all of this. .
>
>
>
> I am curious to see what others think about as far as a differential
> diagnosis for Cryptococcal pneumonia and sepsis in a child. I am sure the
> warts are related. Even though they are few, they are in an odd
> distribution in both children.
>
>
>
> Thanks,
>
> Jen Leiding
>
>
>
>
>
>
>
>
>
> Jennifer Leiding, MD
>
> Assistant Professor
>
> University of South Florida
>
> Department of Pediatrics
>
> Division of Allergy, Immunology, and Rheumatology
>
> Children’s Research Institute
>
> 140 – 7th Avenue South Box 9680
>
> St. Petersburg, Florida 33701
>
> Phone: 727.553.1304
>
> Fax: 727.553.1295
>
>
>
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