[CIS PIDD] [cis-pidd] Patient with CVID, inguinal lymphadenopathies and lymphedema

[Seppänen Mikko]

Dear Patricia, 

are his monocytes and B-DCs normal, in one GATA2/MonoMAC/DCML I have seen a milder B-cell defect like in your case and even lung granulomas (radiologically+biopsy with GLILD-like and LIP and PAP, will be published in a GATA2 -series soon) and his lymphedema makes me think of GATA2 with Emberger's sdr. 
His B-, CD4 and NK cell counts?

If no dendritic cells in peripheral blood or even clear monocytopenia, seq GATA2, and consider SCTx if positive. And have him included to some patient series of GATA2, since there is still a lot we do not know of this disease.

Does he have any signs to suggest pulmonary alveolar proteinosis? 

Of course he might as well be "possible CVID" with IgG hypogamma, secondary lymphedema due to granulomatous lymphadenopathy and low vaccine responses. High dose IgG replacement, steroids, TNF blockers, or even RTX+MTX/6MP are Your choices then, I guess.

mikko

Mikko Seppänen, Finland
________________________________________
Lähettäjä: Patar [patar20000 at yahoo.es]
Lähetetty: 14. kesäkuuta 2013 5:25
Vastaanottaja: CIS-PIDD
Aihe: [cis-pidd] Patient with CVID, inguinal lymphadenopathies and lymphedema

Hi I  like to ask your opinion about this case:

Man
40 years old
In 2002 he presented with bilateral inguinal lymphadenopathies, malaise, without fever or elevation of inflamatory parameters. Biopsy of inguinal lymphadenopathies: suppurated granulomas without any microbiological agent found.

>From then on, we has had intermitently periods of inguinal pain, diarrhea and arthralgias of  hands and axial spine ( without synovitis).

In 2007 he had another inflammation of inguinal adenopathies. Biopsy describes a polyclonal lymphocitic hyperplasia.
He received prednisone at high doses and Azulfidine without clinical response.
2008: the diagnosis of CVID was made based in a midly low level of IgG (600 aprox) and poor response to polysacharides and protein vaccines.
He has no history of recurrent infections.
Familiar medical history: father died of Non Hodking lymphoma and had a history of recurrent sinopulmonary infections.

>From then on he received monthly infusions of IVGG with improvement of arthralgias. However we continued having inflammation in inguinal lymph nodes with appearence of mild lymphedema in lower extremities ( confirmed by isotopic lymphocintigraphy).

He had received metothrexate and hidroxyclorochine ( up to 4,5 mg/ kg) with persistence of inflammatory inguinal adenopathies and intermitent autolimited periods (he uses naproxen) of arthralgias and diarrhea ( wihout elevation of inflammatory parameters).
He has normal scanner of abdomen, pelvis and thorax. Normal upper endoscopy and colonoscopy
He is very worried about the eventual progression of lower extremities lymphedema.

¿ what would you offer him?

Kind regards

Patricia Roessler
Alergia e Inmunología
Chile


El 13-06-2013, a las 21:45, "Leiding, Jennifer" <jleiding at health.usf.edu<mailto:jleiding at health.usf.edu>> escribió:

Hi all:

I am following a little 6yo boy with chronic Giardia infection starting at age 4. He has intermittent symptoms of abdominal pain and diarrhea or loose stools. He has been treated with prolonged courses of metronidazole, paramomycin, and Alinia without effect. Endoscopy and colonoscopy were normal with the exception of Giardia on biopsy specimens from the colonoscopy.  He is thriving well and not losing weight.  There is no history of major infections  but does have frequent URI’s. Other parasitic infections, cryptosporidium, and C. diff were ruled out. Vitamin deficiencies associated with chronic giardiasis were also ruled out.

He lives in an urban area and no one else in the family has been infected. He has an older brother who is healthy. His family had their water checked by the city and was normal with no parasites or other enteric organisms.

CMP is normal
CBC – normal with ALC 2700, ANC 3400 AEC 270
Diphtheria, tetanus, pneumococcal titers normal.
IgG 832, IgA 94, IgM 87, IgE 178
Absolute CD3 1707, CD4 1178, CD8 418, CD56 154, CD19 518
Normal endoscopy and colonoscopy other than Giardia found on biopsy slides
Vitamin C 1.62 vitamin A 30 folate 19.4

Does anybody have any ideas about further workup or management?

Thanks,
Jenny 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: 727.553.3519
Fax: 727.553.1295

---

The CIS-PIDD listserv is supported by:

[http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org<mailto:info at clinimmsoc.org>

Not a member of CIS? Please visit www.clinimmsoc.org<https://cis.execinc.com/edibo/Signup> to join!

You are currently subscribed to cis-pidd as: patar20000 at yahoo.es<mailto:patar20000 at yahoo.es>.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183824736.0ff4cb0c77623023962d3c4ffeaaa470&n=T&l=cis-pidd&o=43478669

---

The CIS-PIDD listserv is supported by:

[http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org<https://cis.execinc.com/edibo/Signup> to join!

You are currently subscribed to cis-pidd as: mikko.seppanen at hus.fi<mailto:mikko.seppanen at hus.fi>.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183824751.2106f30c0050b88ca85ab6b5148641fa&n=T&l=cis-pidd&o=43478756


---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=43479301
or send a blank email to leave-43479301-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org