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Î SS 58. Management of malignancy in patients with AT and related
disorders must be individualized. (C)
Î SS 59. Stem cell transplantation can be considered in selected
patients with AT and related disorders. (C)
DiGeorge syndrome (DGS)
Î SS 60. DGS should be investigated in patients with thymic hypoplasia,
cardiovascular structural defects, midline craniofacial defects, and
hypoparathyroidism. (C)
Î SS 61. Periodic immunologic re-evaluation is recommended for
patients with DGS. (C)
Î SS 62. Patients suspected of having DGS should have molecular
testing for deletion of chromosome 22q11.2 or 10p14-13 by using
fluorescence in situ hybridization or a genomic DNA microarray. (C)
Î SS 63. Treatment of infants with complete DGS requires some form of
T-cell reconstitution. (C)
Idiopathic CD4 lymphopenia (ICD4L)
Î SS 64. ICD4L should be suspected in patients with opportunistic
infections and persistent CD4 T-cell counts of <300 cells/μL in the
absence of HIV infection or another cause of lymphopenia. (D)
Î SS 65. Management of ICD4L is supportive and dictated by the degree
of immune compromise. (D)
Immuno-osseous dysplasias
Î SS 66. The immuno-osseous dysplasias should be considered in
patients with severe growth retardation, skeletal abnormalities, and
T-cell lymphopenia. (C)
Î SS 67. Medical management of immunoosseous syndromes should
include antibiotic prophylaxis and IgG supplementation appropriate to
the severity of the immune dysfunction. (C)
Î SS 68. HSCT is indicated and has been successful for the correction of
hematologic and immunologic defects in patients with CHH. (C)
Comel-Netherton syndrome
Î SS 69. A diagnosis of Comel-Netherton syndrome (SPINK5 gene
mutation) should be sought in patients with abnormal hair structure,
ichthyosis, allergic disease, and increased IgE and low IgG levels. (C)
