Family studies of children presenting with deepseated abscesses

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Family studies of children presenting with
deep-seated abscesses

• Luciana Araújo Oliveira Cunha, MD, MSc
• Division of Pediatric Immunology, School of
  Medicine, Federal University of Minas Gerais,
  Belo Horizonte, MG, Brazil.

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Family 1

• Healthy parents.
• B.A.F.M. 12 years old, male sex, assymptomatic.
• M.D.F.G. 9 years old, male, several
  hospitalizations due to pneumonia, splenic
  abscess and osteomyelitis.
• J.P.F.M. 6 years old, male, who developed
  hepatoesplenomegaly and fungal pneumonia.
• A.C.F.M. 4 years old, female sex, assymptomatic.

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Family 2

• Healthy parents.
• L.D.L. male, deceased at 10 months of age with
  severe pneumonia.
• D.D.L. 3 years old, male, presenting with
  cervical suppurative adenitis.

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Family 3

• Healthy parents
• Y.T.M.S. 1 year old, male, who had two previous
  hospitalizations due to pneumonia and three
  hospitalizations due to cervical suppurative
  adenitis with poor response to antibioticotherapy.

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Family 4

• Healthy parents.
• P.R.S.G. 12 years old, male, who had several
  hospitalizations due to pneumonia. Presenting
  pulmonar sequelae with bronchiectasis and
  pulmonary hypertension.

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Dihydrorhodamine-based flow citometry studies.

• Fluorescent cytometry using the
  dihydrorhodamine-123 probe is an ultrasensitive
  method for detecting intracelular H2O2
  production.
• Pairs of tubes containing peripheral blood
  leucocytes loaded with dihydrorhodamine were
  analyzed by flow citometry after incubation of
  the cells with or without phorbol-miristate
  acetate.
• Prescott Atkinson T et al. J Peds 1997 130(3)
  488-491
• Vries E et al. Eur J Pediatr 2001 160 583-591

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Methods DHR in a normal subject
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Results Family 1
Control
co
Mother 1
J.P.F.M.
M.D.F.M.
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Family 2
D.D.L.
Control
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Families 3 and 4
Control
Mother 3
P.R.S.G.
Y.T.N.S.
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The 11th slide (SORRY)

• Teaching points
• Typically dont need a DNA sequence, DHR is
  sufficient.
• Abscess formation is not always present.

P.R.S.G.