[CIS PIDD] [cis-pidd] Case of ILD

Fri Apr 22 14:15:34 EDT 2016

Dear Lynn,

We've see that inverted CD4/8 ratio and absent response to vaccination with PIK3CD GOF.  I believe this is on the ARUP panel, but if the panel is negative you might consider whole exome sequencing since your patient might need a BM/lung transplant depending on the PID you identify.  With the follicular bronchiolitis you might consider asking them to stain to see what the lymphocytes are, and possibly consider rituximab if there is a B cell predominance.

There are some folks here who do genetic testing for surfactant deficiencies I can put you in touch with if you contact me, although with the immune deficiency this may be less likely.  Our center does lung transplants, but might be a bit far (5hr).

Best,

Megan

Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics
Division of Rheumatology
Washington University School of Medicine
Cooper_m at kids.wustl.edu<mailto:Cooper_m at kids.wustl.edu>
Lab website: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M
(lab office) 314-286-0262
(lab fax) 314-286-2895

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Friday, April 22, 2016 12:19 PM
To: CIS-PIDD
Subject: [cis-pidd] Case of ILD

I have a 2 y.o. white male with biopsy proven ILD (see biopsy results below).  He also has 0 antibody production titers to s pneumonia despite both Pneumovax and PCV-13 and I've subsequently started him on IVIG (one dose received).  Genetic testing (screen) for immunodeficiency is pending for 35 deletions (ARUP). He continues to struggle with high dose prednisone, frequent exacerbations, and very labile asthma.

Questions:
1.      In addition to prednisone, does anyone have any experience with using other immunomodulators such as cyclophosphamide?
2.      I've read an article from Pediatric Pulmonology regarding genetic testing for surfactant protein C mutations and use of hydroxychloroquine for treatment in these patients-any thoughts?
3.      If a lung transplantation is a possibility, what centers are close to Oklahoma where this patient is from?

I have included his labs and biopsy information at the bottom of the page.  I appreciate any feedback! Dr. Lynn Wiens Warren Clinic Tulsa, OK

4/19/2016  3:02 PM - Background User Lab

Component Results

Component

Value

Ref Range & Units

Status

IGG

732

345-1213 mg/dL

Final

4/4/2016  5:36 PM - Background User Lab

Component Results

Component

Value

Ref Range & Units

Status

HIV-1/2 Ag/Ab

Non-reactive

Non-reactive

Final

HIV Ag/Ab s/co ratio

0.06

<1.00

Final

T-cell fixation test: poor response to antigens & mitogens.
DHR which screens for phagocytic function is normal.
Lymphocyte function, detected by T-cell fixation test, shows a subpar response to viral peptides.
Patient does not perform adequate antibodies to streptococcus pneumonia
3/28/2016 12:25 PM - Janna L. Dierker

Component Results

Component

Value

Ref Range & Units

Status

CD3 T Lymphs (%)

58.0

55-82 %

Final

CD3 T Lymphs (Absolute)

1856 (L)

2300-3300 cumm

Final

CD4+/CD3+ (%)

27 (L)

38-46 %

Final

CD4+/CD3+ (Absolute)

838 (L)

1500-2200 cumm

Final

CD8+/CD3+ (%)

32 (H)

8-31 %

Final

CD8+/CD3+ (Absolute)

988

350-2500 cumm

Final

CD4/CD8 Ratio

0.85 (L)

1.17-6.22

Final

CD19 B Lymphs (%)

36

11-45 %

Final

CD19 B Lymphs (Absolute)

1178

430-3300 cumm

Final

NK Cells (%)

4 (L)

5-27 %

Final

NK Cells (Absolute)

133

90-590 cumm

Final

No organisms cultured on BAL
This lung biopsy shows a primarily airway-centered, follicular bronchiolitis pattern of lymphocytic inflammation, mixed with scattered areas of interstitial involvement by a lymphocytic interstitial pneumonia-like pattern. Both are interspersed around areas of spared, relatively uninvolved parenchyma. There is evidence of small airway injury and areas of mucostasis and foamy macrophages with cholesterol aggregates are indicative of more proximal airway obstruction. No features are seen to suggest other entities in the clinical differential including primary surfactant deficiency, pulmonary interstitial glycogenosis, or organizing pneumonia/infection. The possibility of chronic aspiration injury was considered due to the prominence of airway involvement however due to the overall histologic pattern and absence of aspirated foreign material this would be considered less likely. Otherwise the primary consideration for this combination or follicular bronchiolitis and LIP pattern in a child would be underlying immunodeficiency syndrome, including inherited immunodeficiency syndromes but also acquired causes (infectious HIV, EBV, etc.). It is understood that clinical workup for such is ongoing at the moment.

Lynn A. Wiens, MD
Office: 918-495-2636
Cell: 918-550-1200
http://tulsaallergynews.com
[cid:image001.jpg at 01D19C98.655B4F60]

________________________________

Saint Francis Health System intends this email only for the use of the person to whom it is addressed and may contain information that is privileged, confidential, and exempt from disclosure under applicable law. If you have received this email in error, you are hereby notified that we do not consent to any reading, dissemination, distribution, or copying of this email and request you notify the sender immediately and destroy this transmission. Violators may be prosecuted under Federal law.

---

You are currently subscribed to cis-pidd as: cooper_m at kids.wustl.edu<mailto:cooper_m at kids.wustl.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396471.9a016f51f09faba79ab9575dbdcfbf77&n=T&l=cis-pidd&o=3601824

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3601824-96396471.9a016f51f09faba79ab9575dbdcfbf77 at lyris.dundee.net<mailto:leave-3601824-96396471.9a016f51f09faba79ab9575dbdcfbf77 at lyris.dundee.net>

The materials in this email are private and may contain Protected Health Information. If you are not the intended recipient, be advised that any unauthorized use, disclosure, copying, distribution or the taking of any action in reliance on the contents of this information is strictly prohibited. If you have received this email in error, please immediately notify the sender via telephone or return email.

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=3601928
or send a blank email to leave-3601928-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160422/20ca5ca4/attachment-0001.html>
-------------- next part --------------
A non-text attachment was scrubbed...
Name: image001.jpg
Type: image/jpeg
Size: 2883 bytes
Desc: image001.jpg
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160422/20ca5ca4/attachment-0001.jpg>