[CIS PIDD] [MARKETING][cis-pidd] CVID and profuse diarrhea

Thu Jan 21 00:42:18 EST 2016

Hi Yae-Jean,

Your listing of all her troubles left me with a lot of questions and just as worried as you?

In my opinion she needs urgent re-evaluation of her diagnosis, her disease is unlikely CVID, rather some CID despite normal looking CD4 and CD8 subsets. Quite a number of candidates spring to mind, so many indeed that urgent exomes would be truly nice. Immunomodulatory agents could then be considered in unblinded fashion.

To pinpoint fewer candidates the exact biopsy findings might help?

SCTx would be risky with 3 active infections. Have you already attempted salmonella eradication w antibiotics? Which ones?

Noro th attempt with p.o./ nasojejunal IgG + Alinia + IFN? All at the same time?

At the moment her lungs seem to be in bad shape, what is her diffusion capacity? Aspergillus: means of dg- restricted to lungs in imaging and blood tests or systemic? Biopsy?

Fecal antitrypsin? protein losing enteropathy seems likely with that history and hypoalbuminemia, extent of intestinal lymphangiectasia seems limited if no CD4&8 lymphopenia? Has PN been started to improve nutritional status?

The cause of tubulopathy, biopsy findings? Lymphadenopathy, the same? Liver biopsy?

Yours,

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)

Head, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 21.1.2016 kello 5.52:

Dear all,

I have a difficult case of CVID patient whom I recently started to see and would like to ask your opinions

- 18 year old female diagnose as CVID at the age of 3 years in 2002
- currently, bronchiectasia with probable invasive aspergilosis, liver cirrhosis, renal tubulopathy, and significant diarrhea with PCR only positive salmonella and norovirus

<2002>
- was diagnosed as CVID with a hx of frequent pneumonia
- managed to grow along growth curve until age 10-11
- failure to grow since age 12
- performed ok school life on IVIG without hospitalization until 2010-11

<20010-11>
- hospitalization for work-up on poor weight gain and GI pathology
- 2010: pathology reported, esophageal varix grade I,  duodenal bx showed atrophy of villi, apoptotic bodies with increased intraepithelial lymphocytes, abdomen CT showed multiple LN enlargement and enterocolitis, hepatosplenomegaly
- 2011: bx of terminal ileum showed also above findings and intestinal lymphangiectaisa

<2015>
- In August, she developed really really serious profuse diarrhea.
- significant weight loss and now the body weight is  25-30 kg, seriously cachexia condition since then
- extensive parasite, bacterial, viral, fungal infection as for enteric pathogen revealed positive PCR for salmonella spp. and norovirus in the stool and no other cultured organisms
- colon bx showed lots of damaged mucosa and massive neutrophil infiltration, crypt abscesses, increased lymphocyte infiltration than before.
- I reviewed the slides with the pathologist and he says her pathology looks somewhat different from inflammatory bowel diseases (UC or Crohn's disease)

<2016>
- Early this month, she presented to ER with hemopysis -> w/u showed possible invasive  pulmonary aspergillois, for this she is on ambisome
- She still has serious diarrhea 15 times per day.  Her output is almost over 3000 cc and she is 26 kg today.
- Salmonella and norovirus PCR is still positive as of Jan 2016 >) oral rifaximin and ribavirin were started 5 days ago.
- It seems like whatever she eats or we infuse, she cannot hold nutrients, electrolytes in her body.

<labs>
- Initial labs in July 2002 was
lympho subset: CD3 2870, CD4 1790, CD8 1080, B cells 160 (5%), NK cell 5
Ig G 33, IgA 6, IgM 4 mg/dL
- As I reviewed her past labs, her IgG level has been in 200-400 mg/dL on IVIG tx and IgA and IgM levels has been also less than 5 mg/dL..

- Labs in December 2015 was
CD3 2072 cells /uL, CD4 833, CD8 1175, B cells 0, NK 43 cells/uL
hypoalbuminemia, electrolyte imbalance, etc..

At this point, I would like to ask your opinion on management option. Is there anything that I can do further for her?
- I plan to f/u PCR for salmonella and norovirus after two wks of tx and also perform terminal ileum and colon bx to see the pathology change. But I am not sure whether pathogens would be easily cleared and the pathology would be improved..
- I am thinking she might need some immunomoluatory agents or steroid..but I am concerned with her lung (aspergillosis) and gut pathogens (salmonella and noro) at this point..Maybe can I try at least oral budesonide?

I would appreciate your thoughts and suggestion.

Regards,

YaeJean

Yae-Jean Kim, MD, PhD

Associate Professor
Division of Infectious Diseases and Immunodeficiency
Department of Pediatrics,
Samsung Medical Center,
Sungkyunkwan University School of Medicine,
81 Irwon-ro, Gangnam-gu, Seoul, South Korea

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