TABLE II.

Biological characteristics of the patient and his relatives

	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.