An association of hypochondroplasia and immune deficiency


Patiroglu T. , Akar H. H. , Okdemir D. , Kurtoglu S.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.27, ss.783-786, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 27
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1515/jpem-2013-0468
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.783-786

Özet

A 4-year-old boy with hypochondroplasia was admitted to our clinic with complaints of bronchopneumonia. He also had immune deficiency characterized by low CD3, CD4 T-lymphocyte subsets and a low level of serum immunoglobulin A (IgA). The diagnosis of hypochondroplasia was made on clinical, radiological, and laboratory findings by the pediatric endocrinology department. The focus of our study is hypochondroplasia associated with immune deficiency which was unpublished in English medical literature previously.

Abstract

A 4-year-old boy with hypochondroplasia was admitted to our clinic with complaints of bronchopneumonia. He also had immune deficiency characterized by low CD3, CD4 T-lymphocyte subsets and a low level of serum immunoglobulin A (IgA). The diagnosis of hypochondroplasia was made on clinical, radiological, and laboratory findings by the pediatric endocrinology department. The focus of our study is hypochondroplasia associated with immune deficiency which was unpublished in English medical literature previously.