J Pediatr. 1975 Jun;86(6):868-72.

Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia.

Saulsbury FT, Winkelstein JA, Davis LE, Hsu SH, D'Souza BJ, Gutcher GR, Butler IJ.

Abstract

Patients previously described with cartilage-hair hypoplasia, a distinctive form of short-limbed dwarfism, have been found to have deficient cell-mediated immunity with intact antibody-mediated immunity. The patient with cartilage-hair hypoplasia described in the present report is unusual in that she had both deficient antibody-mediated immunity and deficient cell-mediated immunity. In addition, she developed severe, vaccine-related paralytic poliomyelitis. This complication suggests that live viral vaccines should not be administered to children with short-limbed dwarfism until the form of short-limbed dwarfism is established and immunologic evaluation is performed when indicated.

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[Hypoplasia of cartilage and hair with combined immune deficiency]. [Ann Pediatr (Paris). 1989]
[Hypoplasia of cartilage and hair with combined immune deficiency].
Rubie H, Graber D, Fischer A, Tauber MT, Maroteaux P, Robert A, Le Deist F, Rochiccioli P, Griscelli C, Regnier C. Ann Pediatr (Paris). 1989 Jun; 36(6):390-2.
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Steffensen O, Ostergaard PA. Eur J Pediatr. 1980 Oct; 135(1):55-8.
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Solé D, Leser PG, Soares D, Naspitz CK. Rev Paul Med. 1993 Jan-Feb; 111(1):314-9.
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Review [Short-limbed dwarfism with immunodeficiency, cartilage-hair hypoplasia, metaphyseal chondrodysplasia, Gutti-Lux syndrome]. [Ryoikibetsu Shokogun Shirizu. ...]
Review [Short-limbed dwarfism with immunodeficiency, cartilage-hair hypoplasia, metaphyseal chondrodysplasia, Gutti-Lux syndrome].
Tsuchiya S. Ryoikibetsu Shokogun Shirizu. 2000; (32):329-31.

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Review Cartilage-hair hypoplasia.
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Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia.

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