[CIS PIDD] [MARKETING][cis-pidd] ADA Deficient SCID with NK lymphocytosis

[CIS-PIDD]

Hi Richard!

Can you check for somatic STAT3/STAT5b GOF mutations?

Blood smear: percentage of LGL cells?

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)

Chief, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 11.11.2015 kello 19.38:

18 yo male maintained on peg-ADA, IGSC, TMP/SMX and itraconazole prophylaxis presented with a three month history of weight loss (4kg, previous weight 60.9kg) without any other signs or symptoms. The physical exam was unchanged from three months previous. Specifically, there was no adenopathy or hepatosplenomegaly, the chest was clear and the abdomen benign. Distant history includes an episode of cryptococcal meningitis which is the reason for the itraconazole.

During the evaluation he was treated with Megace and regained his weight. His exam is unchanged and he feels well.

The questions are: is this an LGL leukemia? What is the best next step?
Thanks,
Richard Wasserman
Dallas

Fungitel and Quantiferon gold were negative.



July 28

August14

Sept 1

Oct 7

Nov 4

WBC

3.9

4.5

3.7

4.9

3.2

HgB

12.4

13.2

12.9

12.2

13.1

Platelets

1.46

163

139

168

135

Neut abs

2.0

0.8

0.9

2.0

1.1

Lymph abs

1.0

2.6

1.7



1.2













Monos abs

0.6

0.4

0.2



0.3

Eos abs

0.2

0.6

0.9



0.4

Baso abs

0.0

0.1

0.0



0.1

Metas

0.01

---

0.037



0.2













Alt

42



109



40

Ast

23



51



47

LDH

304

228





319

ESR

71

95

64



66

CRP

26,5

10.1

10.1



14.8

Ferritin









574


PET-CT
3mm RUL pulmonary nodule minimally FDG avid. SUV one PDG avid right hilar and pre-tracheal lymph nodes SUV 2.3-4.4

Sept 28
The bone marrow biopsy and clot section reveal a hypocellular marrow (10% cellularity) with erythroid hyperplasia (M:E 1:3). Megakaryocytes are readily identified and morphologically unremarkable. No atypical lymphoid infiltrates are seen. The aspirate smears show a left-shifted granulocytic series without an expanded blast population or evidence of maturation arrest. Iron stains performed on the clot section, biopsy and representative aspirate smear are negative. Flow cytometric analysis reveals an increased number of NK cells. The differential diagnosis for this process includes an unusual reactive phenomenon, immune dysregulation, and a neoplastic NK cell disorder.

Specimen viability 98%
0.22% non-lymphoid blast.progenitor cells (CD34+, CD117+, HLADR+)

0.19% Hematogones/B-lineage precursor cells (CD19+ with variable expression of CD10, CD20, and CD45)

0.01% Polytypic, predominantly small (forward light scatter properties) B-cells (CD19+,CD20+); kappa:lambda ratio 1.0:1

10% small T-cells (CD3+ with non-abberrant expression of pan-T-cell antigens CD5 and CD7): CD4/CD8 ratio 0.81:1

30 NK cells with slightly dim CD7 expression

0.01% Plasma cells (CD38+)

33% Granulocytic elements (CD13+, CD16 variable+, CD15+ without significant right anle light scatter property or antigenic pattern atypia)

0.4% Monocytes (CD11b+, CD14+, CD64+ and DR+)

1.8% Eosinophils (CD13+, CD15+, CD11b+, CD16-)

Erythroid cells, CD45- cells and debris comprise the majority of the remaining events.

--
Richard L. Wasserman, MD, PhD
Allergy Partners of North Texas
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788<tel:%28972%29%20566-7788>
Fax (972) 566-8837<tel:%28972%29%20566-8837>
Cell (214) 697-7211<tel:%28214%29%20697-7211>

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