[CIS PIDD] [cis-pidd] Patient question

[Prescott Atkinson, M.D.]

Thanks - I am sorry I forgot to mention that her RAB27A sequence is normal.  Will work on getting EM done..
Prescott

From: Kumar, Ashish [mailto:Ashish.Kumar at cchmc.org]
Sent: Monday, April 28, 2014 2:38 PM
To: CIS-PIDD
Subject: RE:[cis-pidd] Patient question

This could be one of several conditions, complicated by variable penetrance and possible mosaicism. The hypopigmentaion and platelet defects suggest Hermansky Pudlak syndrome (there are 9 described subtypes already); EM of platelets will help. ITP is a diagnosis of exclusion and many patients with other conditions have been diagnosed with ITP and have undergone splenectomy - WAS as mentioned; being a female, I would look for other conditions including Fanconi anemia and autosomal-recessive DKC. Finally, get a genetics consult - this is most likely a constitutional disorder and less likely just an immune deficiency.

Ashish Kumar, MD, PhD
Cancer and Blood Diseases Institute
Division of Bone Marrow Transplantation and Immune Deficiency
Cincinnati Children’s Hospital Medical Center
http://www.cincinnatichildrens.org/bio/k/ashish-kumar/
http://www.cincinnatichildrens.org/research/divisions/b/bone-marrow/labs/kumar/default/

From: Prescott Atkinson, M.D. [mailto:PAtkinson at peds.uab.edu]
Sent: Monday, April 28, 2014 9:28 AM
To: CIS-PIDD
Subject: [cis-pidd] Patient question


I'd appreciate advice from the group on a case.  I am following a 43 yo white female with a history of repeated pneumonias since childhood, now with bronchiectasis, h/o ITP/splenectomy and an impressive h/o recurrent infections - mainly RLL pneumonias/bronchiectasis. IgM is mildly low but immunoglobulins are normal.  She has a h/o cervical carcinoma and now has been diagnosed with squamous cell carcinoma of the neck positive for p16 suggesting HPV.  She has a h/o bleeding with normal platelet counts and her platelet function assay is abnormal (normal kinetics but low ATP release) - this has been repeated.  She developed gray hair in her 20's and has had bilateral hearing loss since childhood.  Response to pneumovax was excellent (pre-titers are shown below).  NK cell function (Cincinnati) was normal.





* Final Report *

The patient's platelets aggregated with all agonists tested: arachidonic acid, ADP and collagen, consistent with normal platelet function. However, we noticed decreased ATP release when her platelets were exposed to collagen and arachidonic acid, but not thrombin. This finding may represent a mild defect in her granular contents, which may explain some of her bleeding history. Dr. M. Marques

This test was reviewed and approved by the signing pathologist. 10/15/2013 15:25:07 CDT

__________________________________________________________________________________

Flow Cytometry Clinical Information

The patient is a 43 year old female with a clinical history of IgA deficiency. The patient's current WBC is 10,700 cells/microliter with a differential of 52% segs, 38% lymphs, 9% monos, and 1% basos. The platelet count is 273,000 cells/microliter and the hemoglobin is 12.3 g/dL.

The following cell markers were analyzed by flow cytometry; the data is on file in the Laboratory: CD2, CD3, CD4, CD5, CD8, CD10, CD16, CD19, CD20, CD23, Mu, Delta, Kappa, Lambda, CD56, CD57 and CD45.

This test was developed and its performance characteristics determined by UAB Pathology. 　It has not been cleared or approved by the U.S. Food and Drug Administration. 　The FDA has determined that such clearance or approval is not necessary. 　This test is used for clinical purposes.　This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.

FC Gross Description

The specimen is received in a single tube labeled with the patient's name and containing 3 mL of peripheral blood. The specimen is processed by the whole blood lysis technique.

Dr. Reddy/Dr. Hanna

10/15/2013 10:21:48 CDT

FC Diagnosis

Peripheral blood:

- Mild CD4+ T-cell predominance; CD4:CD8 ratio of 3.6

　

Vishnu Reddy MD

Verified: 10/15/13 13:37 VR/CAH

Reviewed by: Hanna, Courtney Alexandra MD MD

FC Pathologist Comment

The Wright stained peripheral smear shows normal hematopoetic elements.


>From the CBC data, the absolute lymphocyte count is 4066 cells/microliter.


Flow cytometry analysis shows that 67% of the lymphocytes are CD3+ T cells for an absolute T cell count of 2,732 cells/microliter. About 51% of the lymphocytes are CD4+ T cells, while 14% are CD8 T cells for a ratio of 3.6. Subsets of the T cells co-express CD56 (0.4% of the total lymphocytes), CD57 (2% of the total lymphocytes), and CD16 (0.2% of the total lymphocytes). About 9.1% of the lymphocytes are NK lineage cells. A total of 26% of the lymphocytes are B cells (absolute count = 1,038 cells/microliter), with a small subset of CD10+ B cells (CD10+, CD19+) ( 0.1% of lymphocytes). A total of 2.5% of the lymphocytes co-express CD19 and low density CD5. About 95% of the B cells show bright expression of surface IgM and IgD with polyclonal light chains, with about 2.5% of the B cells being surface IgM and IgD negative.

　

Result Name


Current Result


Normal Range


WBC (10^3/cmm)


10.70 10/14/2013


4.00 - 11.00


RBC (10^6/cmm)


3.79 10/14/2013


3.80 - 5.20


Hgb (gm/dL)


12.3 10/14/2013


11.3 - 15.2


Hct (%)


38 10/14/2013


33 - 45


MCV (fL)


100 10/14/2013


80 - 96


MCH (pg)


32 10/14/2013


27 - 33


MCHC (gm/dL)


32 10/14/2013


32 - 36


Platelet (10^3/cmm)


273 10/14/2013


150 - 400


RDW (%)


14.1 10/14/2013


11.0 - 16.0


MPV (fL)


9 10/14/2013

　


NRBC Inst (10^3)


0.0 10/14/2013

　


Neutrophils (%)


52 10/14/2013


35 - 73


Abs.Neutrophils (10^3/cmm)


5.55 10/14/2013

　


Lymphocytes (%)


38 10/14/2013


15 - 52


Monocytes (%)


9 10/14/2013


4 - 13


Eosinophils (%)


0 10/14/2013


0 - 5


Basophils (%)


1 10/14/2013


0 - 2


IgG 1 (mg/dL)


540 10/14/2013


382-929 -


IgG 2 (mg/dL)


363 10/14/2013


241-700 -


IgG 3 (mg/dL)


72 10/14/2013


22-178 -


IgG 4 (mg/dL)


0.8 10/14/2013


4.0-86.0 -


IgG Total (mg/dL)


1,050 10/14/2013


694-1618 -


Pneumo Sero 1 (mcg/mL)


0.88 10/14/2013

　


Pneumo Sero 3 (mcg/mL)


1.95 10/14/2013

　


Pneumo Sero 4 (mcg/mL)


0.76 10/14/2013

　


Pneumo Sero 5 (mcg/mL)


12.21 10/14/2013

　


Pneumo Sero 6B (mcg/mL)


3.67 10/14/2013

　


Pneumo Sero 7F (mcg/mL)


3.64 10/14/2013

　


Pneumo Sero 8 (mcg/mL)


1.81 10/14/2013

　


Pneumo Sero 9N (mcg/mL)


2.68 10/14/2013

　


Pneumo Sero 9V (mcg/mL)


1.10 10/14/2013

　


Pneumo Sero 12F (mcg/mL)


3.11 10/14/2013

　


Pneumo Sero 14 (mcg/mL)


5.95 10/14/2013

　


Pneumo Sero 18C (mcg/mL)


8.01 10/14/2013

　


Pneumo Sero 19F (mcg/mL)


17.58 10/14/2013

　


Pneumo Sero 23F (mcg/mL)


0.96 10/14/2013

　


Plt Agg


10/14/2013

　


　



T. Prescott Atkinson, MD PhD, Professor and Director

Division of Pediatric Allergy, Asthma & Immunology

University of Alabama at Birmingham

Tel: 205-939-9072

Fax: 205-975-7080

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