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

[dmvascon at usp.br]

Dear Pere and Juan, good afternoon 

As you previouly thought, I also thought in AK2 and ADA deficiency. 
Nevertheless, ADA deficiency is not usually associated to myeloid cells cytopenia s. 
As AK2 deficiency is associated to sensorineural deafness, despite the low age of the patient, could be interesting to screen for deafness in the patient, and to get a stem cell donor for early transplantation. 

Best regards, 

Dewton 

Dewton de Moraes Vasconcelos, MD, PhD 
University of Sao Paulo School of Medicine 
Sao Paulo, Brazil 

----- Mensagem original -----


> De: "Pere Soler Palacin" <psoler at vhebron.net>

> Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>

> Cc: "Juan Santos" <jlsantosperez at gmail.com>

> Enviadas: Sábado, 12 de Outubro de 2013 13:39:57

> Assunto: [cis-pidd] SCID with severe neutropenia



> 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 3 rd 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 1 st 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 ; 34660psp at comb.cat . Web: www.upiip.com .



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