[PAGID] Request for advice - ? patient with CVID

[Cunningham-Rundles, Charlotte]

I agree with Jack. This is a path we have gone down before, too many times. Have lost several this year. I don't know of any magic, and whatever you do, aside from supportive care, you will second guess yourself and think it was the wrong decision.  

Charlotte Cunningham-Rundles MD PhD
Professor of Medicine, Pediatrics, Immunobiology
Mount Sinai School of Medicine
1425 Madison Avenue
212 659 9268 phone
212 987 5593 fax
New York City, New York, 10029

----- Original Message -----
From: Stephan Ehl <stephan.ehl at uniklinik-freiburg.de>
Date: Tuesday, September 16, 2008 4:11 am
Subject: Re: [PAGID] Request for advice - ? patient with CVID
To: pagid at list.clinimmsoc.org


> Are there any data on former absolute lymphocyte counts (including 

> childhood).

> This may be a "leaky" SCID variant and I would suggest looking a 

> bit 

> closer at the remaining T cells (phenotype, repertoire) and then at 

> RAG 

> or Artemis genetically. ADA levels should also be done.

> 

> With kind regards,

> 

> St. Ehl

> 

> 

> 

> Routes, John schrieb:

> > Sorry for the late reply

> > Agree with Mel’s points

> > This patient almost certainly has multisystemic granulomatous 

> disease 

> > with lung, liver and possible GI tract involvement (either 

> primary due 

> > to GI tract granulomas or secondary to severe portal 

> hypertension)—in 

> > my experience, steroids are usually ineffective in treating this 

> > disease (did the patient have improvement in LIP by PFTs/CT?)---

> > -I am particularly worried that the patient has severe 

> granulomatous 

> > liver disease and portal hypertension-----A liver bx and 

> depending on 

> > the result a measurement of portal vascular pressures are 

> > needed----need info on prognostic labs for advanced liver disease 

> (Na, 

> > albumin, PT etc)

> > Would be happy to discuss the case in detail by phone

> > Jack

> >

> >

> > John M. Routes, MD

> > Chief, Section of Allergy and Clinical Immunology

> > Professor of Pediatrics, Medicine, Microbiology and Molecular 

> Genetics> Department of Pediatrics

> > Children's Hospital of Wisconsin

> > Medical College of Wisconsin

> > 9000 W. Wisconsin Ave.

> > Milwaukee, WI 53226-4874

> >

> > Phone: 414-456-4802; 456-4803

> > Fax: 414-456-6487 (Clinical)

> > Fax: 414-456-6323 (Laboratory)

> > Email: jroutes at mcw.edu

> >

> >

> >

> >

> > ------------------------------------------------------------------

> ------

> > *From: *"Berger, Melvin" <Melvin.Berger at UHhospitals.org>

> > *Reply-To: *<pagid at list.clinimmsoc.org>

> > *Date: *Thu, 11 Sep 2008 23:44:51 -0500

> > *To: *<pagid at list.clinimmsoc.org>

> > *Conversation: *Request for advice - ? patient with CVID

> > *Subject: *RE: [PAGID] Request for advice - ? patient with CVID

> >

> > If the patient has had infections with /strep. pneumoniae/ while 

> on 

> > IVIg, I suggest you adjust the IVIg dose/interval to be sure she 

> has 

> > protective pneumococcal titers at the trough (I learned that 

> fronm 

> > Ralph Shapiro).

> >

> > What is the status of her liver, biliary tree and panreas ? Could 

> she 

> > have pancreatic insufficiency ? If the liver is enlarged and/or 

> the 

> > LFts are chronically elevated, I would suggest a biopsy. Do you 

> have 

> > any idea what happened when she got the ascites and splenomegaly 

> ? 

> > Does she have waxing and waning granulomatous hepatitis. After 

> > reviewing the liver and intestinal histology, including flow 

> > cytometry, consider a TNF antagonist (if it is granulomatous) or 

> > Rituxin if the intestine has a lymphocytic infiltrate which is 

> CD20+ .

> >

> > Another possibility is intestinal lymphangiectasia- which might 

> > explain the maladsorption, and if she is hypoproteinemic, that 

> may 

> > have exacerbated at a point in tie contributing to the ascites. 

> Is her 

> > albumin borderline or low ? Intestinal lymphangiectasia could 

> > certainly contribute to her lymphocytopenia.

> >

> > *Melvin Berger, M.D., Ph.D.

> > *Professor of Pediatrics and Pathology

> > Case Western Reserve University

> > phone 216 844 3237

> >

> > Director, Jeffrey Modell Center for Primary Immune Deficiencies

> > Division of Allergy-Immunology

> > Rainbow, Babies and Children's Hospital

> > University Hospitals of Cleveland

> > RB&C Rm 504, MS 6008B

> > 11100 Euclid Ave.

> > Cleveland, OH 44106

> >

> > ------------------------------------------------------------------

> ------

> > *From:* pagid-bounces at list.clinimmsoc.org on behalf of Abraham, 

> > Roshini S., Ph.D.

> > *Sent:* Thu 9/11/2008 2:34 PM

> > *To:* pagid at list.clinimmsoc.org

> > *Cc:* Rank, Matthew A., M.D.

> > *Subject:* [PAGID] Request for advice - ? patient with CVID

> >

> > Dear PAGID colleagues,

> >

> > We would appreciate your comments regarding the following patient 

> who 

> > was recently seen in our institution:-

> >

> > A 44 year-old female presenting with chronic lung disease and 

> > malabsorption for a second opinion. As a child, she had recurrent 

> > otitis media (never requiring surgery), frequent viral upper 

> > respiratory infections, and recurrent tonsillitis. In 1991 she 

> > developed shortness of breath and had infiltrates on her chest x-

> ray 

> > and ultimately was diagnosed with lymphocytic interstitial 

> pneumonitis 

> > based on open lung biopsy. She also at the time was noted to have 

> > hypogammaglobulinemia and was started both on prednisone and on 

> IVIG 

> > and has been on both since. She has attempted to wean from her 

> > prednisone, although has recurrent lung symptoms with decreasing 

> > doses. She also throughout this time has had recurrent sinus 

> > infections including three sinus surgeries and recurrent lung 

> > infections in which she develops sputum that almost nearly always 

> > grows Streptococcus pneumoniae. She has also had recurrent yeast 

> > vaginitis. She is currently treated with IV antibiotics on a 

> rotating 

> > basis as there has been growing concern by her local physicians 

> that 

> > she was not absorbing her oral medications.

> > In April 2006 she developed both ascites and pleural effusions 

> and had 

> > this fluid removed. She developed massive splenomegaly to the 

> point 

> > that it was interfering with her breathing and ultimately had a 

> > splenectomy for this reason. She continued to have trouble with 

> > diarrhea and malabsorption and currently has a diagnosis of 

> > osteoporosis thought to be related to vitamin D malabsorption and 

> > chronic prednisone use. She has also had Giardia on several 

> occasions. 

> > She currently has a permanent intravenous access and had a brief 

> > course of TPN earlier this year and gets IV antibiotics as well 

> as her 

> > IVIG through it.

> > Current laboratory tests include IgA <1, IgM <5, IgG 760 (last 

> > infusion 2 weeks ago), IgE <2. Total leukocytes 13,500 (95% PMN, 

> 2% 

> > Lymph, 2% Mono, 1% Eos). Hemoglobin 12.1 g/dl and Platelet count 

> > 257,000. T and B cell surface marker quantification: %CD19 was 

> > undetectable, CD4 79/ul, CD8 51/ul. One previous lab result from 

> an 

> > outside lab 2 years ago also demonstrated the absence of CD19 

> cells. 

> > The patient had previous bone marrow and intestinal biopsies and 

> we 

> > are in the process of obtaining these records. BTK flow assay on 

> > monocytes showed normal protein expression.

> >

> > The malabsorption has been the most troubling condition for this 

> > patient and our Gastroenterology colleagues are planning to 

> target any 

> > microbial overgrowth or parasite infection but are also 

> considering 

> > additional anti-inflammatory treatment. I am also requesting that 

> the 

> > local physicians attempt to keep the trough IgG levels >800.

> >

> > Any assistance/suggestions for diagnosis and/or treatment would 

> be 

> > welcome.

> >

> > Matthew A. Rank, MD

> > Roshini S. Abraham

> > Mayo Clinic, Rochester

> >

> >

> >

> > Roshini Sarah Abraham, Ph.D., D(ABMLI)

> > Director

> > Cellular and Molecular Immunology Laboratory

> > Department of Laboratory Medicine and Pathology

> > Hilton 210 e

> > Mayo Clinic

> > 200 1st St SW

> > Rochester, MN-55905

> > Ph: 507-266-9292

> > Ph (Secy): 507-284-4055

> > Fax: 507-266-4088

> >

> >

> 

> -- 

> Prof. Dr. Stephan Ehl

> Immunologie/Rheumatologie

> 

> UNIVERSITAETSKLINIKUM FREIBURG

> Zentrum für Kinderheilkunde und Jugendmedizin

> Mathildenstrasse 1, 

> 79106 Freiburg

> 

> Tel +49 761 270-4309 (4301) / Fax -4599

> stephan.ehl at uniklinik-freiburg.de

> http://www.uniklinik-

> freiburg.de/kinderklinik/live/forschung/immunologie.html

> 

>