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Diagnostic Criteria
for DiGeorge Syndrome
(DGS)
Definitive diagnosis
Male or female
patient with reduced numbers of CD3+
T cells (less than 500/mm3) and two
of the three following
characteristics:
-
Conotruncal
cardiac defect (truncus arteriosus,
tetralogy of Fallot, interrupted
aortic arch, or aberrant right
subclavian).
-
Hypocalcemia of
greater than 3 weeks' duration
that requires therapy.
-
Deletion of
chromosome 22q11.2.
Probable
diagnosis
Male or female
patient with reduced numbers of CD3+
T cells (less than 1500/mm3) and a
deletion of chromosome 22q11.2.
Possible
diagnosis
Male or female
patient with reduced numbers of CD3+
T cells (less than 1500/mm3) and at
least one of the following:
-
Cardiac defect.
-
Hypocalcemia of
greater than 3 weeks' duration
that requires therapy.
-
Dysmorphic
facies or palatal abnormalities.
Patients with a
definitive or probable diagnosis are
assumed to have a greater than 98
and 85 percent probability,
respectively, that in 20 years they
will still have the same diagnosis.
Patients with a possible diagnosis
are those that have some but not all
of the characteristic clinical or
laboratory findings of a particular
disorder.
Related Criteria
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Causes of Bacteraemia and Meningitis in Young Children
Clinical and Laboratory "Low Risk" Criteria for Children Younger Than 3 Months with Fever and No Focus of Infection
Diagnostic
Criteria for Cystic Fibrosis
(CF)
Modified
Bell´s Staging Criteria for
Necrotizing Enterocolitis (NEC)
More
References:
-
Conley ME,
Notarangelo
LD,
Etzioni A.
Diagnostic
criteria
for
primary
immunodeficiencies.
Representing
PAGID
(Pan-American
Group for
Immunodeficiency)
and ESID
(European
Society
for
Immunodeficiencies).
Clin
Immunol.
1999
Dec;93(3):190-7.
[Medline]
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