Table 1.

Clinical features and laboratory values for patients, demonstrating profound CD4-lymphopenia and reduced lymphoproliferative responses in patients

Feature	P1	P2	P3	Normal range
Clinical features
Eczema & skin infections	+	+	−
Recurrent sinopulmonary infection	+	+	−
Oral candidiasis	−	+	−
Cryptosporidiosis	+	+	+
Viral infections:
Molluscum contagiosum	+	+	+
Recurrent VZV	−	−	+
Severe 1° HSV	+	+	−
Chronic EBV viremia	+	+	+
EBV LPD	+	+	−
Flow cytometric immunophenotyping (absolute cell counts per μl except where % indicated)
CD3+ T cells	815	850	921	1400–8000
CD4+ T cells *naive CD4+ T cells	2000	26,817	36,818	900–5500
CD8+ T cells *naïve CD8+ T cells	51,216	59,217	52,328	400–2300
TCR-γδ+ (% of T cells)	28	7	15
HLA-DR+ (% of T cells)	84	77	62
CD16+/CD56+ NK cells	192	147	298	100–1400
CD19+ B cells	439	897	1355	600–3100
CD27+IgD− (% of B cells)	2	3	5
Lymphocyte proliferation assay
PHA patient (cpm)	11,326	34,343	67,254
PHA control (cpm)	148,110	122,215	101,164
SI patient	82	29	94
SI control	445	407	349
Immunoglobulins
IgG	18.3	28.8	17.8	3.0–13.3 g/L
IgA	2.2	4.47	0.7	0.3–1.29 g/L
IgM	0.6	1.13	0.9	0.43–1.9 g/L
Pneumococcal ab	<3	17	88	20–200 mg/L
Tetanus ab	0.88	1.55	0.49	0.1–10 IU/ml
Hemophilus B ab	NT	>9.0	NT	1.0–20 mg/L

VZV Varicella zoster virus, HSV Herpes simplex virus, EBV Epstein Barr Virus, LPD lymphoproliferative disease, PHA phytohemagglutinin, cpm counts per minute, SI stimulation index, ab specific antibody, NT not tested

^aLaboratory evaluation was performed at 5.5 yrs. (P1), 3.4 yrs. (P2), 1.7 yrs. (P3)

^bNaïve T cells were defined as CD3 + CD27 + CD45RA+ and as either CD4+ or CD4-

^cNormal ranges are age matched to P3