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					  Tatiana C. Lawrence – Universidade Federal de São Paulo

      Case Report: 4 years old patient with combined
    immunodeficiency without naive T cells, BMT or not?

Patient male, 4 ½ years old started infecctions at 3 months old with haemorragic varicella
associated with respiratory distress threated in the intensive unit care. He had been
presented recurrent pneumonias from the age of 6 months till 2 years old hospitalized 8
times, associated with recurrent otitis and chronic diarrhea. He was breast fed exclusivelly
until 5 months old and his parents are second cousins. He has a health younger brother. His
follow up iniciated with 2 years old and has presented important failed to thrive at that
moment. Laboratory exams at 2 y old showed IgG=1562mg/dl, IgA=8mg/dl,
IgM=120mg/dl; negative response to proteic antigens (tetanus and diphteria) and a weak
response to pneumococo antigens (2/6serotypes). At 3 y old he had CD3=1151, CD4=362,
CD8=396, CD19=473, CD16/56=1212cell/mm3, normal ADA and uric acid. X Ray without
sings of cartilage hair hypoplasia . At this moment, he is under IVIG replacement monthly,
antibiotic profilaxis with Sulfametoxasol-thrimetropim and has no severe infecctions. Last
exams with 4 y old showed IgG=791mg/dl, IgA=<5mg/dl, IgM=90mg/dl,
CD4=362cell/mm3, (CD45RA+CCR7+ (naïve)=2cell/mm3; CD45RA-CCR7+(peripheral
memory)=14,6cell/mm3 and                CD45-CCR7- (central memory)=323cell/mm3),
CD8=396cell/mm ,(         CD45RA+CCR7+=1cell/mm3,             CD45RA-CCR7+=2,1cell/mm3
CD4+CD38+=166,2cell/mm3), CD19=468cell/mm3, CD16/56=1439cell/mm3. T cell
functions were performed and expression of CD25 in T cells after stimulation with
Candidina and PPD for 72hs were lower than control. The same was observed to
Production of INFγ in T cells cultures after stimulation with, Candidine and PPD. His
brother has a HLA no matched. Do BMT or not?

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