Accessible Unlicensed Requires Authentication Published by De Gruyter April 16, 2014

An association of hypochondroplasia and immune deficiency

Turkan Patıroglu, H. Haluk Akar, Deniz Okdemir and Selim Kurtoglu


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 The focus of our study is hypochondroplasia associated with immune deficiency which was unpublished in English medical literature previously.

Corresponding author: H. Haluk Akar, MD, Erciyes University School of Medicine, Department of Pediatric Immunology, Kayseri, Turkey, Phone: +90-352-207-66-66/25300, Fax: +90-352-437-58-25, E-mail:


1. Saito T, Nagasaki K, Nishimura G, Takagi M, Hasegawa T, et al. Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. Am J Med Genet A 2012;158A:630–4.Search in Google Scholar

2. Song SH, Balce GC, Agashe MV, Lee H, Hong SJ, et al. New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. Am J Med Genet A 2012;158A:2456–62.Search in Google Scholar

3. Carter EM, Davis JG, Raggio CL. Advances in understanding etiology of achondroplasia and review of management. Curr Opin Pediatr 2007;19:32–7.Search in Google Scholar

4. Aksu G, Genel F, Koturoğlu G, Kurugöl Z, Kütükçüler N. Serum immunoglobulin (IgG, IgM, IgA) and IgG subclass concentrations in healthy children: a study using nephelometric technique. Turk J Pediatr 2006;48:19–24.Search in Google Scholar

5. Ikincioğullari A, Kendirli T, Doğu F, Eğin Y, Reisli I, et al. Peripheral blood lymphocyte subsets in healthy Turkish children.Turk J Pediatr 2004;46:125–30.Search in Google Scholar

6. Matsui Y, Yasui N, Kimura T, Tsumaki N, Kawabata H, et al. Genotype phenotype correlation in achondroplasia and hypochondroplasia. J Bone Joint Surg Br 1998;80:1052–6.Search in Google Scholar

7. Hubbard V, Sahota A, Callahan B, Carr S, Paige D. A unique presentation of immuno-osseous dysplasia. Pediatr Dermatol 2006;23:373–7.Search in Google Scholar

8. TrkkaniAsal G, Alanay Y, Turul-Ozgür T, Zenker M, Thiel C, et al. Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. Turk J Pediatr 2009;51:493–6.Search in Google Scholar

9. Zonios DI, Falloon J, Bennett JE, Shaw PA, Chaitt D, et al. Idiopathic CD4+ lymphocytopenia: natural history and prognostic factors. Blood 2008;112:287–94.Search in Google Scholar

10. Ahmad DS, Esmadi M, Steinmann WC. Idiopathic CD4 lymphocytopenia: spectrum of opportunistic infections, malignancies, and autoimmune diseases. Avicenna J Med 2013;3:37–47.Search in Google Scholar

11. Vertes D, Linden MD, Carey JL. Idiopathic CD4+ T-lymphocytopenia: analysis of a patient with selective IgA deficiency and no evidence of HIV infection. Cytometry 1995; 22:40–4.Search in Google Scholar

12. Kultursay N, Taneli B, Cavusoglu A. Pseudoachondroplasia with immune deficiency. Pediatr Radiol 1988;18:505–8.Search in Google Scholar

Received: 2013-12-4
Accepted: 2014-2-28
Published Online: 2014-4-16
Published in Print: 2014-7-1

©2014 by Walter de Gruyter Berlin/Boston