TABLE II.
Mother | Father | Adult normal values | Sister | Patient | Normal value | |
---|---|---|---|---|---|---|
Clinical phenotype | ||||||
Age (mo) | NA | NA | NA | 14 | ||
Age at onset (mo) | – | – | – | Birth | ||
Splenomegaly | – | – | – | +++* | ||
Hepatomegaly | – | – | – | +++* | ||
Lymphadenopathy | – | – | – | +* | ||
Autoimmunity | ||||||
Clinical features | None | None | None | None | ||
Autoantibodies (anti-) | ND | ND | ND | None | ||
Immunologic phenotype | ||||||
WBC count (/mm3) | 5,200 | 4,700 | 4,000-10,000 | 10,300 | 51,500 | 8,000-12,000 |
Lymphocyte count (/mm3) | 3,500 | 3,300 | 1,000-4,000 | 6,100 | 40,700 | 3,500-5,000 |
Monocyte count (/mm3) | 400 | 500 | 200-700 | 700 | 5,800 | 200-1,000 |
Granulocyte count (/mm3) | 1,300 | 900 | 1,700-7,500 | 3,500 | 5,000 | 3,500-6,000 |
Hemoglobin concentration (g/dL) | 11.6 | 11.2 | 12-18 | 10.6 | 6.2 † | 11-15 |
IgG (g/L): | 16.7 | 17.5 | 6.7-12.8 | 16 | 38.1 | 4.5-8 |
IgA (g/L): | 2.48 | 1.74 | 0.7-3.5 | 1.76 | 2.47 | 0.4-1.22 |
IgM (g/L): | 1.09 | 1.08 | 0.5-1.5 | 0.96 | 1.72 | 0.5-1.5 |
DN T cells (% of TCRαβ+ cells) | 1.5 | 4 | <3 | 2.5 | 87 | <3 |
Biological phenotype | ||||||
Plasma Fas ligand (ng/mL) | <0.07 | <0.07 | <0.2 | <0.07 | <0.07 | <0.2 |
Plasma IL-10 (pg/mL) | <4 | <4 | <20 | <4 | 330 | <20 |
Plasma vitamin B12 (pg/mL) | 220 | 248 | 299 | 1,890 | 220-1,100 | |
Plasma CD25 (pg/mL) | ND | ND | ND | 17,000 | 880 ± 110 |
Values in boldface indicate the major variations.
NA, Not available; ND, not determined; TCR, T-cell receptor.
Described in the Results section.
Direct Coombs negative.