Follow-up of a Follow-up of a patient with patient with CERNUNNOS deficiency CERNUNNOS deficiency Edyta Heropolitańska-Pliszka Edyta Heropolitańska-Pliszka Immunology Department Immunology Department Children’s Memorial Health Children’s Memorial Health Institute Warsaw, Poland Institute Warsaw, Poland
Follow-up of a patient with CERNUNNOS deficiency. Edyta Heropolitańska-Pliszka Immunology Department Children’s Memorial Health Institute Warsaw, Poland. CERNUNNOS / XLF. a new type of radiosensitive T-B-NK+ SCID. Cernunnos deficiency core components. consanguinity - PowerPoint PPT Presentation
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Follow-up of a patient Follow-up of a patient with with
CERNUNNOS deficiencyCERNUNNOS deficiency
Edyta Heropolitańska-PliszkaEdyta Heropolitańska-PliszkaImmunology DepartmentImmunology Department
Children’s Memorial Health Institute Children’s Memorial Health Institute Warsaw, PolandWarsaw, Poland
CERNUNNOS / XLFCERNUNNOS / XLF
a new type of a new type of radiosensitive radiosensitive
consanguinity consanguinity recurrent bacterial and opportunistic infections recurrent bacterial and opportunistic infections microcephaly microcephaly severe growth retardation severe growth retardation dysmorfic features dysmorfic features hypogammaglobulinemia IgG and IgAhypogammaglobulinemia IgG and IgA fluctuating level of IgMfluctuating level of IgM mild to severe B and T lymphopenia, NK cells not mild to severe B and T lymphopenia, NK cells not
affectedaffected all T cells of memory phenotype (CD45 RO+)all T cells of memory phenotype (CD45 RO+) impaired response of T cells to PHAimpaired response of T cells to PHA chromosomal translocations in lymphocyteschromosomal translocations in lymphocytes increased radiosensitivity increased radiosensitivity
8-year-old boy8-year-old boy
irrelevant family historyirrelevant family history recurrent bacterial and recurrent bacterial and
viral infections of upper viral infections of upper and lower respiratory and lower respiratory tract since infancy tract since infancy period (otitis, bronchitis period (otitis, bronchitis and pneumonitis every and pneumonitis every 2 months)2 months)
HSCTHSCT March 2006 - MUD PBPC March 2006 - MUD PBPC
(CD34+ 12,7x10(CD34+ 12,7x1066/kg b.m)/kg b.m)
Conditioning regimen reduced because of Conditioning regimen reduced because of breakage of chromosomes (FluCyATG)breakage of chromosomes (FluCyATG)
Early outcome:Early outcome: +12 day - GVHD II stage+12 day - GVHD II stage in skin (steroids) in skin (steroids) +17 day - good haematological +17 day - good haematological
reconstitutionreconstitution +27 day - complete chimerism+27 day - complete chimerism
+ 62 day+ 62 day good clinical condition, good clinical condition,
no symptoms of no symptoms of infectioninfection
complete chimerism, complete chimerism, no signs of GVHDno signs of GVHD
immunosupression: CsA immunosupression: CsA and steroids (Encorton and steroids (Encorton 0,5 mg/kg b.m.)0,5 mg/kg b.m.)
+210 day – good +210 day – good clinical condition, clinical condition, normal blood and normal blood and urine tests, complete urine tests, complete chimerismchimerism
+385 day+385 day Protracted fever with Protracted fever with