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Syndromes with autoimmunity
Autoimmune lymphoproliferative syndrome (ALPS) and
ALPS–related disorders
Î SS 126. ALPS or an ALPS-related disorder should be suspected in
patients who exhibit lymphoproliferation and autoimmunity. (C)
ÎSS 127. Measurement of T cells expressing the α/β T-cell receptor (TCR)
without either CD4 or CD8 should be the first screening test for ALPS. (C)
Î SS 128. Treatment of ALPS should be tailored to address life-
threatening complications. (C)
Autoimmune polyendocrinopathy–candidiasis–ectodermal
dysplasia (APECED)
Î SS 129. APECED should be suspected in patients with immune-
mediated destruction of endocrine tissue, chronic candidiasis, and
ectodermal dystrophy. (C)
Î SS 130. Patients with clinical features consistent with autoimmune
regulator (AIRE) mutation should be screened for this defect, when
possible. (C)
Î SS 131. Immunosuppressive therapy should be considered in patients
with APECED. (C)
Î SS 132. Other specific genetic lesions should be sought in patients
with chronic mucocutaneous candidiasis (CMCC) without other
manifestations of APECED. (C)
IPEX syndrome
Î SS 133. IPEX syndrome should be suspected in patients with severe
enteritis and food allergy, infantile diabetes or thyroiditis, and
eczema. (C)
ÎSS 134. A diagnosis of IPEX syndrome should be sought by enumerating
Treg cells in the peripheral blood or genetic analysis of FOXP3. (C)
Î SS 135. Initial treatment of IPEX syndrome should include immune
suppression with a calcineurin inhibitor or mammalian target of
rapamycin (MTOR) inhibitor. (C)
Î SS 136. HSCT should be considered early in the course of IPEX
syndrome. (C)
Î SS 137. Other specific genetic lesions should be sought in patients
with features of IPEX syndrome with normal FOXP3 expression and
gene sequences. (C)
Î SS 138. Complement deficiency should be considered in the
evaluation of patients with autoimmune disease. (C)
Diseases of Immune Dysregulation
