Deficiency of humoral immunity in cartilage-hair hypoplasia

Citation
O. Makitie et al., Deficiency of humoral immunity in cartilage-hair hypoplasia, J PEDIAT, 137(4), 2000, pp. 487-492
Citations number
28
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
JOURNAL OF PEDIATRICS
ISSN journal
0022-3476 → ACNP
Volume
137
Issue
4
Year of publication
2000
Pages
487 - 492
Database
ISI
SICI code
0022-3476(200010)137:4<487:DOHIIC>2.0.ZU;2-3
Abstract
Objective: Cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia, is usually associated with impaired cellular immunity. This study evaluate s tumor al immunity in patients with CHH. Methods: The concentrations of immunoglobulins G, A, and M (IgG, IgA, and I gM) and Ige subclasses were studied in 20 patients. Data for 5 additional p atients with recurrent infections were retrospectively reviewed. Results: Seven of the prospectively evaluated patients (35%) had defective humoral immunity. Three patients had IgA deficiency. Four patients had IgG2 deficiency, accompanied by Ig A deficiency, IgG4 deficiency, or both in 3 patients. IgG4 was low in most patients. Increased infections were usually associated with supranormal Ige and IgG1 and subnormal IgA, IgG2, or IgG4 c oncentrations. One retrospectively reviewed patient had severe hypogammaglo bulinemia, and 3 had multiple IgG subclass deficiencies. Conclusions: Humoral immunity is impaired in CHH and contributes to the inc reased susceptibility to infections.