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J Med Genet 39:922-925 doi:10.1136/jmg.39.12.922
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Longevity in Schimke immuno-osseous dysplasia

Table 1

Chronology of disease among 37 patients with SIOD

Age (years) at detection of
Pedigree No IUGR Decreased growth Recurrent infections Renal disease CNS symptoms Death Cause of death Current age (years)
CMV, cytomegalovirus; EBV, Epstein-Barr virus; HSV, herpes simplex virus; IUGR, intrauterine growth retardation; NA, information not available; +, symptom present but age of onset not available.
The data from patient 57, whose case history is presented in this manuscript, are shown in bold.
Families with severe disease
Patients born before 1990
    3 + 0 NA 3.5 5.6 8.5 Stroke
    4a + 1.5 <3.5 3.5 8 Renal failure
    4b + 2.5 NA 3 8 Renal failure
    6 + 3.5 + 3.5 5 Pulmonary embolism
    8 + 0 + 4 5.7 Pneumonia
    9 + 5 8 10 CMV encephalitis
    31 + 0 8 11 14 Lymphoproliferative disease
    35 + 0 6 3 8 Renal failure
    39 3 4 10 10 15 Stroke
    40 + 0.58 4 5 7 Stroke
    57 + 0 0.25 5 8 20.0
Patients born after 1990
    11 2.5 4 3 4 5 Sepsis
    21 <5 9 10 12.9 EBV infection
    22 + <5 6 8 14.6 CMV infection
    23 0.5 3.75 4.14 8.7
    24 + 0.5 + 5 9 Stroke
    25 + 0.5 + 2 <2 9.7
    26 2.5 <1 <4 5.25 8 Bone marrow failure
    28 2 + 5 11.9
    29 + 0 2 2 <3 4 Restrictive lung disease
    30 + 0 5 5 5.7 10 HSV pneumonitis
    32 1.66 3 3.8 4.5 Pulmonary embolism
    33a + 0 1.2 2.75 Bone marrow failure
    33b + 1 2.25 <1 3.7 Stroke
    38 + 0 2 6.8 + 10.7 Adenovirus
    44 + 0 4 9.5
    47 + 0 4 10.7
    48 0 3 4 6.0
    49 + 0 <1 3 7.0
    50 + 0 5 4.5 6.5
    51 + 0 4.5 5 6.1
    53 4 5–6 5 10.7
Families with milder disease
Patients born before 1990
    16 + 0 8 26.1
    18a + 13 11 36.5
    18b + 8 8 12 Pulmonary oedema
    18c + 12 11 24.0
    27 + <3 10 20.0

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