[PAGID] PAGID Digest, Vol 36, Issue 4--53 yo woman with lymphopenia

[Dale Umetsu]

Jason,
Very interesting patient.  Do you know if your patient was lymphopenic
before the phenobarb?

I've seen patients with Adenosine DeaminAse deficiency who present with
severe lymphopenia at an older age than what might be typical for SCID
patients, with few infections, and with normal or near normal immune
function initially.  This has been reported in the literature as well.  You
might also look for PNP deficiency, although I have not seen any patients
with PNP deficiency myself.

Dale Umetsu 
 
********************************

Division of Immunology
Children's Hospital Boston
Harvard Medical School
Karp Laboratories, 10th floor
One Blackfan Circle
Boston, MA  02115

email:  dale.umetsu at childrens.harvard.edu
phone:  617 919 2439
FAX:    617 730 0384

On 4/20/08 9:53 PM, "pagid-request at list.clinimmsoc.org"
<pagid-request at list.clinimmsoc.org> wrote:



> From: "Jason Raasch, MD" <raas0027 at umn.edu>

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

> Date: Sun, 20 Apr 2008 20:42:10 -0500

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

> Subject: [PAGID] Patient with lymphopenia

> 

> Please offer your insight into this 53 year old woman with persistent

> verruca plantaris (plantar warts) and severe lymphopenia.  Consider the

> following questions as you review the case:

> 

> First note flow cytometry (presented in absolute numbers, gated on CD45):

> 

> Total CD3 lymphocytes: 53 per mm3 (reference 1064-1672)

> 

> CD3+CD4+: 10 (627-1102)

> CD3+CD8+: 38 (247-741)

> CD4:CD8 = 0.27

> CD19:  93 (95-418)

> CD56+16+: 93 (95-494)

> 

> At first glance, whether primary or acquired, this is striking.  Now

> consider her clinical history:  She was well from birth through adolescence.

> Varicella at age five; shingles at age 19.  Seizures at age 23; on

> Phenobarbital for 10 years this was then discontinued and she has had no

> further neurologic events.

> 

> By her late 20's she began having persistent verruca vulgaris on hands,

> knees, pre-tibial area and feet.  Over the last 30 years has failed OTC

> therapies as well as excision, laser ablation, cryotherapy, topical and oral

> retinoids and localized bleomycin.



> Variably positive ANA (up to 1:320, but often undetectable) starting in her

> 30s.  Other than intermittent arthralgias, no other symptoms.

> Hypothyroidism diagnosed at age 51 (thyroglobulin and thyroperoxidase

> antibodies undetectable).

> 

> Lymphopenia brought to her attention at age 52 (WBC 4,000/mm3; ANC=3,200;

> ALC=240).  Medical record review actually demonstrates same findings as far

> back as 1970's and persistently each decade thereafter, suggesting a

> long-standing finding.

> 

> Review of systems completely unremarkable except for the above, as well as

> mild depression and hypothyroidism.  No GI symptoms.  No history of

> recurrent infection.  No history of heart disease or abnormal facies.

> Patient reports unremarkable family history.

> 

> Over the last 18 months the following have been UNREMARKABLE: electrolytes,

> ALT/AST, serum albumin and protein, B12, folate and iron levels, serum

> electrophoresis/immunofixation, quantitative immunoglobulins,

> tetanus/diphtheria, pneumococcal and varicella titers, isohemagglutinins,

> rheumatoid factor, dsDNA, CCP antibody, CRP, ESR, C3, C4, CH50, TSH and T4.

> Stool alpha-1 antitrypsin normal.  HIV ELISA X 2 negative.  FANA 1:40 with

> homogeneous pattern.

> 

> INTERESTINGLY, this patient reports that her HEALTHY adolescent daughter was

> incidentally found to have just as severe a lymphopenia AND neutropenia.

> 

> In summary this is a fairly health woman with a striking lymphopenia (that

> most likely has been present over the last 30+ years), persistent verruca

> vulgaris and intermittently positive ANA.  A HEALTHY daughter has

> lymphopenia and neutropenia and has not had evaluation.

> 

> So the questions:

> 

> 1. Who has seen cases like this?

> 2. Why has she had such a benign course despite such a lymphopenia?

> 3. To what extent should a diagnosis be pursued?  In her daughter?

> 

> I am interested in any comments.

> 

> Have a great week.

> 

> --jason

> 

> Jason P. Raasch, MD

> Children's Hospitals and Clinics of Minnesota

> Midwest Immunology Clinic

> 2805 Campus Dr, #215

> Plymouth, MN 55441

> Telephone: 763.577.0008

> 

> FAX: 763.577.0192

> e-mail: raas0027 at umn.edu

>