[CIS PIDD] [cis-pidd] 12 yo boy with granulomatous CVID and hypoxia ?hepato-pulmonary syndrome

Mon Feb 6 07:45:49 EST 2017

I have a patient with an identical sorry. We found a micro deletion on chromosome 4q, encompassing NFKB1. Remarkably he responded to Abatacept and is now completely well for > 2 years on monthly Abatacept.

Ashish
Ashish Kumar, MD, PhD
Associate Professor
Director, Pediatric Hematology-oncology fellowship program
Director, Langerhans cell histiocytosis center
Cincinnati Children's Hospital Medical Center

On Feb 6, 2017, at 5:03 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Dear Jane,

I have a patient in her 30s with CVID associated with granulomatous disease, splenectomy, and hepatopulmonary syndrome s/p liver transplant. She had complications of brain abscess and many other infections (thought due to shunting) that complicated her story before the hepatopulmonary syndrome was ever diagnosed. She was maintained on additional prophylactic antibiotics due to these complications. With the hepatopulmonary syndrome, her oxygen requirement was increasing, and she was becoming more cyanotic over time. She received a liver transplant about 2-3y ago. She is doing very well now, on room air (no oxygen requirement at all). The hospitalization during transplant was a rocky road, but she was able to get through it and is doing very well today. I was scared for her during the lengthy hospitalization and ICU course, but she ultimately did great. It also took a little while for things to normalize after transplant. I think I might have posted her story to CIS list serve around 2-3 years ago, looking for similar cases.

Elena Perez
eperez at pballergy.com<mailto:eperez at pballergy.com>

On Feb 6, 2017, at 3:25 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Hi all
I have a difficult diagnostic conundrum that I am hoping someone may be able to help with.
I have a 12 yo boy under my care that I first met 18/12 ago. He has a history of thrombocytopenia at aged 3 treated with prednisone and then had a splenectomy at aged 9 for unexplained massive splenectomy that was causing discomfort. There was no evidence of liver disease or portal hypertension at the time. There were multiple noncaseating granulomata found in the spleen and a diagnosis of possible sarcoidosis was made (ACE 150). He was then having unexplained episodes of becoming unwell with fever and was noted to have some lymphadenopathy. He also had poor weight gain and a mild transaminitis was shown. Biopsies of the gut, liver and lymph nodes all showed similar noncaseating granulomata. He was further investigated and found to have hypogammaglobulinaemia (IgG 5.4, IgA 0.2 and IgM 0.07) and low isotype memory B cells

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I made a diagnosis of CVID and started him on immunoglobulin replacement and initially he seemed a little better but he continued to have incapacitating fevers and feeling unwell and weight gain and growth were poor so I gave him some prednisone and put him on azathioprine. He responded well to this and for a few months had no fevers and was feeling well and gaining weight. In November he was noticed to have some polycythemia and shortness of breath with exercise. Respiratory function tests and oximetry (sats 97%) were considered normal locally (lives 1700km away!). He came to clinic 2 weeks ago and was noticed to be cyanosed with saturations 77-83% in room air and clubbing (new). He had also lost a couple of kilos of weight. He was admitted and investigations were undertaken and he had a strongly positive "bubble test" diagnostic of an AVM. However, an angiogram failed to demonstrate a macroscopic AVM and therefore the diagnosis of hepatopulmonary syndrome was raised. He has normal transaminases currently, no evidence of any problems with liver synthetic function and liver biopsy in Nov 2015 showed granulomas only. Clearly he needs another liver biopsy but it seems the only treatment is a liver transplant!! There is a paper of identical twin bothers in 20's with CVID and hepatopulmonary syndrome and in that paper they cite another case of a man in his 60's.

Has anybody had a similar case or experience of hepatopulmonary syndrome in CVID?? Any help would be very much appreciated.

Kind regards Jane

P.S. bloods have been sent for whole exome sequencing.

Associate Professor Jane Peake
Paediatric Immunologist and Allergist
Discipline of Paediatrics & Child Health
School of Medicine | The University of Queensland
Lady Cilento Children's Hospital| 501 Stanley Street | South Brisbane QLD 4101

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