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Hyper-IgE syndromes (HIES)
Î SS 70. A form of HIES should be considered in patients with recurrent
sinopulmonary and skin infections, chronic eczematous dermatitis,
high serum IgE levels, and eosinophilia. (C)
Î SS 71. The initial approach to HIES therapy should be directed toward
management of complications. (C)
Î SS 72. Patients with DOCK8 deficiency and poor antibody production
should receive IgG replacement therapy. (C)
Î SS 73. The use of IVIG or IFN-γ in patients with type 1 autosomal
dominant HIES might be helpful in selected cases. (C)
Î SS 74. HSCT should be considered for both forms of HIES. (C)
Hepatic veno-occlusive disease
Î SS 75. Mutations in the SP110 gene should be sought in patients with
hepatic veno-occlusive disease with immunodeficiency. (C)
Dyskeratosis congenita (DKC)
Î SS 76. DKC should be investigated in patients with abnormal skin
pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. (C)
Defects of vitamin B12 and folate metabolism
Î SS 77. Inborn errors of folate and vitamin B12 malabsorption should
be considered in the differential diagnosis of SCID. (C)
Î SS 78. Infants with severe vitamin B12 or folate deficiency should be
treated aggressively with folate or cobalamin replacement as soon as
the diagnosis is made. (C)
Immunodeficiency with multiple intestinal atresia (MIA)
Î SS 79. Patients born with MIA should be screened for CIDs. (C)
Î SS 80. HSCT should be considered for treatment of MIA-SCID. (C)
Well-Defined Syndromes with
Immunodeficiency
