An association of hypochondroplasia and immune deficiency

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, radiologi...

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Bibliographic Details
Published inJournal of Pediatric Endocrinology & Metabolism Vol. 27; no. 7; pp. 783 - 786
Main Authors Patıroglu, Turkan, Akar, H. Haluk, Okdemir, Deniz, Kurtoglu, Selim
Format Journal Article
LanguageEnglish
Published Germany De Gruyter 01.07.2014
Walter de Gruyter GmbH
Subjects
Bone and Bones - abnormalities
Bone and Bones - immunology
CD3 Complex - blood
CD4 Antigens - blood
Child, Preschool
childhood
Dwarfism - immunology
Humans
hypochondroplasia
IgA Deficiency - blood
immune deficiency
Immunologic Deficiency Syndromes - immunology
Limb Deformities, Congenital - immunology
Lordosis - immunology
Lymphocyte Subsets - cytology
Male
Receptor, Fibroblast Growth Factor, Type 3 - genetics
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Summary: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 The focus of our study is hypochondroplasia associated with immune deficiency which was unpublished in English medical literature previously.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
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ISSN:0334-018X
2191-0251
DOI:10.1515/jpem-2013-0468