A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections

Table 3

Signs of ALPS and CVID definitions in our patient.

ALPS^10
Required criteria:
Chronic nonmalignant noninfectious lymphoproliferation	+
Elevated CD3^+TCR𝛼𝛽^+CD4^−CD8^− double-negative T-cells	±
Accessory criteria:
Primary:
Pathogenic mutation in FAS, FASLG, or CASP10 genes	−
Defective lymphocyte apoptosis (in 2 separate assays)	−
Secondary:
Elevated soluble FASL or serum interleukin-10 or interleukin-18 or serum plasma vit B12 levels	#
Typical immunohistological findings	−
Autoimmune cytopenias and elevated IgG levels	+
Family history of nonmalignant noninfectious lymphoproliferation	−
CVID
Hypogammaglobulinemia	±(IgA deficiency)
Specific antibody deficiency	±(antipolysaccharide response decreased)
Autoantibodies	−
Malignancy	−
Lymphadenopathy	+
Splenomegaly	+

+ Present in our patient; ± partly or not consistently present in our patient; − not present in our patient; # not tested. ALPS: Autoimmune lymphoproliferative syndrome; CVID: common variable immunodeficiency disorders.