24
Well-Defined Syndromes with Immunodeficiency
Î SS 46. A diagnosis of Wiskott-Aldrich Syndrome (WAS) should
be considered in all male patients with clinically significant
thrombocytopenia and small platelets. (C)
Î SS 47. Patients suspected to have WAS should have a definitive
molecular diagnosis by finding a known deleterious WAS mutation
and/or abnormal WAS protein expression, which might be helpful for
prognosis. (C)
Î SS 48. Management of patients with WAS should include IgG
replacement. (C)
Î SS 49. HSCT must be seriously considered for patients <5 years of age
with suitable stem cell donors. (C)
Non-SCID DNA repair defects
Î SS 50. AT and other chromosomal repair disorders should be
considered in all children with frequent infections and characteristic
neurological, skeletal, and/or cutaneous manifestations, including
ataxia, microcephaly, and telangiectasia. (C)
Î SS 51. Immunodeficiency, centromeric instability, and facial
anomalies (ICF) syndrome should be considered in patients with
abnormal facies, developmental delay, and immunodeficiency. (C)
Î SS 52. Postmeiotic segregation increased 2 (PMS2) defects should be
sought in patients with dysgammaglobulinemia, cafe-au-lait spots, and
colon and/or brain tumors. (C)
Î SS 53. A diagnosis of radiosensitivity, immunodeficiency, dysmorphic
features, and difficult learning (RIDDLE) syndrome should be
suspected in patients with developmental delay, short stature,
dysmorphic facies, and hypogammaglobulinemia. (C)
Î SS 54. Cytogenetic abnormalities, such as chromosomal
translocations and chromosome fragility, support a diagnosis of AT or
other chromosomal repair disorders. (C)
Î SS 55. Patients suspected to have AT should be screened by
measuring the serum α-fetoprotein (AFP) level (C).
Î SS 56. Imaging with radiography should be used cautiously in patients
with AT or other chromosomal repair disorders. (C)
Î SS 57. Antibiotic prophylaxis, IgG replacement therapy, or both are
indicated for patients with AT or other chromosomal repair disorders
with increased susceptibility to infections. (C)
Well-Defined Syndromes with
Immunodeficiency
