[PAGID] Patient with lymphopenia

[Daniel Conway]

The warts story reminds me of WHIM, and the phenotype is varied.  Hypogamm is variable.  
 
Is there a thymus with cells?  B cells in the marrow?  Actually, the teen girl, with the neutropenia, may be the answer-does she posess myelokathexis?  Is there neutrophil/lymphocyte presence in the peripheral blood after GCSF?
 
Additionally, has a CT of the lungs been done-is there silent pneumonia?
 
Dan
 
Sincerely, Daniel H. Conway, MD Asst. Professor of Pediatrics St. Christopher's Hospital for Children Drexel University College of Medicine  


From: raas0027 at umn.eduTo: pagid at list.clinimmsoc.orgDate: Sun, 20 Apr 2008 20:42:10 -0500Subject: [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:

Who has seen cases like this?
Why has she had such a benign course despite such a lymphopenia?
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
 
_________________________________________________________________
Pack up or back up–use SkyDrive to transfer files or keep extra copies. Learn how.
http://www.windowslive.com/skydrive/overview.html?ocid=TXT_TAGLM_WL_Refresh_skydrive_packup_042008
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20080421/b3346117/attachment.htm>