[CIS-PAGID] Rosai-Dorfman and lymphopenia

[Jyonouchi, Soma C]

I would agree with Kate that Rosai Dorfman is a histologic description rather than an underlying disease etiology.  RAG1 and RAG2 mutations would certainly be on the differential for your patient with a T and B lymphopenia (the phenotype from these mutations can be incredibly broad as recently described by Dr. Jolan Walter).  Was there any expansion of gamma delta T cells? 

It sounds like your patient has also had a T-B-NK- phenotype at times - measurement of ADA and PNP levels at the Hershfield lab in Duke would be worthwhile (autoimmunity has been commonly reported in PNP deficiency patients).  

Soma Jyonouchi, MD
Children's Hospital of Philadelphia
Division of Allergy and Immunology
Phone (215) 590-2549
Fax (215) 590-4529
________________________________________
From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org] On Behalf Of Sullivan, Kathleen [sullivak at mail.med.upenn.edu]
Sent: Thursday, May 31, 2012 6:07 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] Rosai-Dorfman and lymphopenia

I've seen Rosai Dorfman once and the peripheral blood was normal.  I think we need to always be circumspect about pathologic diagnoses.  This is a pathologic picture that can be the end result of many things often.  In this case, I would worry about a combined immune deficiency, a leaky SCID picture.

Kate
On May 30, 2012, at 11:08 PM, Tamara Pozos wrote:


> Hello all-

>

> Last week I met a 2.5 year old boy with rapid-onset massive disseminated adenopathy and a nasopharyngeal mass, pathology consistent with Rosai-Dorfman including emperipolesis.   Lymphocyte phenotyping repeatedly shows significant T (absolute 600) and B (ABS 100)  lymphopenia - NK were low initially but normalized.   He was not always lymphopenic, in late April ALC 2500 on CBC .

>

> Past history negative for recurrent infections or growth issues - he actually looks quite well aside from the nodes.  IgG, A, M, E, dip/tet, pneumo titers fine. Mitogen responses OK, but antigen responses not done due to inadequate number of lymphocytes.  EBV and HHV-6 serologies consistent with past exposure.  ALPS considered - DNTs ABS 18, 1.5%; Hgb and platelets are normal.  Abdominal ultrasound normal.

>

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> Mother has sarcoidosis, per report, and has received steroids intermittently.

>

> Questions-

> 1) What experience do you have with immunologic disease in young children with Rosai-Dorfman?  Published reports indicate a spectrum from no immune involvement to transient lymphopenias in self-limited cases to fatalities from infections and severe immunedysregulation.  Are there other diagnoses I should consider or genetic tests you would suggest, esp. given his mother's diagnosis?

>

> 2) Need for treatment - A short course of Decadron early in his course was helpful in shrinking nodes transiently, but they recurred and steroids aren't appealing for the long term. My hematology/oncology colleagues would like to treat with cladrabine as the lymph nodes are very large and may be slightly affecting his ability to swallow. I'm somewhat hesitant to make him more cytopenic, (he is on Bactrim).  Thoughts on chemotherapy? Other immunomodulators?

>

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> Thank you so much for your time and collective experience-

> Tamara

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> Tamara Pozos, MD PhD

> Pediatric Infectious Diseases and Immunology

> Children's Hospitals and Clinics of Minnesota

> Mail Stop 70-504

> Garden View Building, 5th Floor

> 345 Smith Avenue North

> St. Paul, MN  55102

> tamara.pozos at childrensmn.org

> 651-220-6444 (office)

>

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Kate Sullivan, MD PhD
Professor of Pediatrics
ARC 1216 Immunology CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363