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Diseases of Immune Dysregulation
Chediak-Higashi syndrome (CHS)
Î SS 114. CHS should be suspected in patients with partial
oculocutaneous albinism, bacterial infections, and progressive
neurological symptoms. (C)
Î SS 115. Examination of a peripheral blood smear should be the first
diagnostic test for suspected CHS. (C)
Î SS 116. The treatment of HLH in patients with CHS is identical in
principle to the treatment of HLH in other contexts (FHL). (C)
Griscelli syndrome (GS) type 2
Î SS 117. GS type 2 should be suspected in patients with pigmentary
dilution, neurological abnormalities, and pyogenic infections. (C)
Hermansky-Pudlak syndrome (HPS)
Î SS 118. HPS type 2 should be suspected in patients with
hypopigmentation, thrombocytopenia, neutropenia, and recurrent
infections. (C)
Familial hemophagocytic lymphohistiocytosis (FHL) syndromes
Î SS 119. FHL should be suspected in patients with fever,
hepatosplenomegaly, and neurological symptoms. (C)
Î SS 120. Laboratory screening for FHL should be performed before
genetic testing. (C)
Î SS 121. HLH should be treated with high-dose glucocorticosteroids,
and other immunosuppressive agents, and HSCT. (C)
Lymphoproliferative syndromes
Î SS 122. X-linked lymphoproliferative disease (XLP) should be
suspected in boys with fulminant infectious mononucleosis with HLH,
lymphoma, and dysgammaglobulinemia. (C)
Î SS 123. Patients with suspected XLP should be screened by using flow
cytometric testing before genetic testing. (C)
Î SS 124. IVIG should be given to patients with XLP and
hypogammaglobulinemia/dysgammaglobulinemia and infections. (C)
Î SS 125. Patients with XLP and HLH should be treated with
chemotherapy, followed by HSCT. (C)
