Table 1

Clinical, laboratory and outcome characteristics of 10 patients fulfilling the criteria of metaphyseal dysplasia without hypotrichosis in early childhood

	P 1	P 2	P 3	P 4	P 5	P 6	P 7	P 8	P 9	P 10
Mutation*	n.71A>G/ 71A>G	n.71A>G/ 263G>T	n.71A>G/ 71A>G	n.71A>G/ 263G>T	n.71A>G/ 71A>G	n.71A>G/ 263G>T	n.71A>G/ 71A>G	n.71A>G/ 71A>G	n.71A>G/ 71A>G	n.71A>G/ 71A>G
Age at recruitment, years	4.3	0.6	6.6	10.2	14.2	15.3	17.1	26.4	23.8	34.3
Age at the latest follow-up, years	20.9	28.9	34.8	37.6	44.9	46.3	48.1	50.8	54.6	65.4
Duration of follow-up, years	16.6	28.3	28.2	27.4	30.7	31.0	31.0	24.4	30.8	31.1
Age at the first extraskeletal manifestation	20.7	N/A	N/A	7–17	7–17	9	Adulthood	50.5	7–17	43.3
First extraskeletal manifestation	Hodgkin disease	Pollen allergy	Pollen allergy	Recurrent Sin	Recurrent Sin requiring sinus puncture	Recurrent Sin requiring sinus surgery at 8 years	Recurrent Sin requiring sinus punctures at 37 years	Neuroendocrine carcinoma	Recurrent Sin with polyposis requiring sinus punctures	Recurrent Sin, requiring sinus surgery at 61 years
Other extraskeletal manifestations in adulthood	None	None	None	Recurrent otitis media since 31 years, skin warts, pollen allergy	Pollen allergy, bronchiectasis since 43 years	Pollen allergy	Skin warts	Pollen allergy	Maxillary polyposis requiring polypectomy at 14 years	Recurrent pneumonia since 55 years and bronchiectasis since 60 years
Severity of growth failure†	Severe	Mild	Mild	Moderate	Mild	Mild	Mild	Mild	Moderate	Mild
Adult height group, cm	120–130	130–140	130–140	130–140	130–140	140–150	130–140	130–140	120–130	120–130
Lymphocyte subtypes‡	N/A	Low CD19+at 0.6 and 26 years	Normal	Normal	Normal	Low CD3+ and CD4+ at 44 years	Normal	N/A	Low CD3+, CD4+ and CD8+ at 36 and 52 years	Normal
Lymphocyte proliferation§	N/A	Abnormal at 0.6 years	Normal	Abnormal at 10 years	N/A	Abnormal at 2 years	Abnormal at 7 years	Abnormal at 12 years	Abnormal at 10 years	N/A
IgA, M and G levels¶	N/A	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal IgA and IgG, low IgM at 60 years
SAD**	N/A	N/A	Yes, at 32 years	N/A	N/A	None at 44 years	None at 45 years	N/A	Yes, at 52 years	None at 62 years
Outcome	Died at 20 years during cancer treatment	Alive	Alive	Alive	Alive	Alive	Alive	Died at 50 years during cancer treatment	Alive	Alive

*Reference sequence: NR_003051.3.
†Growth failure classified based on CHH-specific growth charts as described in.20
‡Lymphocyte subtypes included CD3+, CD4+, CD8+, CD19+ and CD16/56+ absolute cell numbers measured by flow cytometry as described in.2
§Lymphocyte proliferation measured to PHA, ConA and PWM as described in.20
¶Measured as described in.2
**Specific antibody deficiency was defined as inadequate antibody response to Pneumovax: a fourfold rise in antibody titres and post-immunisation antibody levels ≥0.35 µg/mL to <70% of serotypes, measured as described previously in.2
CHH, cartilage-hair hypoplasia; NA, not available; PHA, phytohaemagglutinin; SAD, specific antibody deficiency.