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Other CID syndromes
Î SS 34. Patients with CID with intermediate T-cell numbers and
function should be studied for leaky SCID or one of several CID
syndromes based on clinical and laboratory characteristics. (C)
Î SS 35. All forms of ancillary or supportive therapy administered to
patients with SCID should be considered for patients with leaky SCID
or non-SCID combined immunodeficiency. (C)
Î SS 36. Patients with leaky SCID or a non-SCID combined
immunodeficiency should be considered for stem cell therapy or gene
therapy on a case-by-case basis. (C)
Hyper-IgM syndrome (HIM) caused by defects of CD40L and CD40
Î SS 37. The diagnosis of a form of HIM should be considered in patients
with very low IgG, IgA, and IgE levels and normal or increased IgM
levels. (C)
Î SS 38. CD40L expression should be evaluated by using flow cytometric
methods on activated T cells. (C)
Î SS 39. CD40 expression should be measured by using flow cytometry
on monocytes or B cells. (C)
Î SS 40. Female patients with the HIM phenotype should be studied
for CD40L mutation if the CD40 mutation or another known mutation
associated with the HIM phenotype is not found. (C)
Î SS 41. PCP prophylaxis is indicated for all patients with known or
suspected CD40 or CD40L deficiency. (C)
Î SS 42. Neutropenia in patients with CD40 or CD40L deficiency should
be treated with granulocyte colony-stimulating factor (G-CSF). (C)
Î SS 43. HSCT should be considered for CD40L and CD40 deficiency.
(C)
CID, unspecified
Î SS 45. Any patient with abnormal serum immunoglobulin levels,
specific antibody production, or both and evidence of impaired cellular
immunity who does not fulfill the clinical and laboratory diagnostic
criteria for any of the above disorders should be given a diagnosis of
unspecified CID. (D)
