[PAGID] Request for advice - ? patient with CVID

[Stephan Ehl]

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