[CIS PIDD] [cis-pidd] SCID with severe neutropenia

[Verbsky, James]

Sorry you already answered that. I would assume you would see microcephaly at birth

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On Oct 12, 2013, at 12:40 PM, "Pere Soler Palacin" <psoler at vhebron.net<mailto:psoler at vhebron.net>> wrote:

Dear all, I need your comments on this case currently being followed-up in another centre.
He's a  5 weeks of iife boy with bacterial sepsis, agammaglobulinemia, severe neutropenia and lymphopenia with almost absent white cell precursors in BM aspirate. Anemia and transient thrombocytopenia were also present. ADA was ruled out using biochemical assays in urine and AK2 mutational analysis was negative. See a brief report below.

Any comment on it will be appreciated. Thnx in advance.

Pere.

CASE REPORT:

AAE, male. BD: 5th September 2013, now 5 weeks of age.
No consanguineous, healthy parents. 1 healthy sister.
Gestation 39 weeks without incidences. Normal weight and height. No dysmorphic signs.

At the 3rd day of life fever (38.5ºC) à  Blood and CSF cultures yielded: E. coli. TLC: 90-200 leucocytes/mm3 (68% PMN, 27%Lymph). Platelets 34,000/mm3 (normalized afterwards), Hb 6.8 g/dl. Normal triglyceride and fibrinogen levels. Ferritin 804 ng/ml (after blood transfusion).
Lymphocyte subsets: CD3 75/mm3 (78.8%), CD4 80/mm3 (68.1%) CD8 8.4/mm3 (9.9%) NK 1,6/mm3 (1,8%) B 6.8/mm3 (8%).
Immunoglobulin levels: IgA <7 mg/dl, IgM 6.6 mg/dl, IgG 600 mg/dl (probably of maternal origin, before 1st IVIG infusion).
Bone marrow aspirate: Diminished megacariocyte number with vacuolated platelets. Red cell hyperplasia with different maturational stages, cytoplasmic granules and nuclear appendix. White blood cells were virtually absent. Isolated neutrophils with cytoplasmic vacuolization. Some macrophages with haemophagocitosis and 2-3% blasts (haematogones).

Adenosine-deaminase in both urine in plasma: normal.
AK2 gen analysis: No mutation detected.

Treatment with IVIG and G-CSF (non response) was started at that point together with prophylaxis with cotrimoxazole and fluconazole. Blood transfusion (irradiated).



Pere Soler Palacín, MD, PhD.
Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.
Assistant Professor. Universitat Autònoma de Barcelona.
Passeig de la Vall d'Hebron 119-129.
08035 Barcelona. Spain.
Tel: 0034934893140. Fax: 0034934893039.
E-mail: psoler at vhebron.net<mailto:psoler at vhebron.net>; 34660psp at comb.cat<mailto:34660psp at comb.cat>. Web: www.upiip.com<http://www.upiip.com/>.



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