McCann, Liza J <br/><br/>
Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.  [electronic resource] 

 -  Journal of clinical immunology  Jan 2014 
 - 42-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1573-2592 
<br/><br/><label>Standard No.: </label>10.1007/s10875-013-9962-6  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Bone and Bones--diagnostic imaging<br/>Child, Preschool<br/>Dermatitis--pathology<br/>Dwarfism<br/>Female<br/>Granuloma--pathology<br/>Hair--abnormalities<br/>Hematopoietic Stem Cell Transplantation--adverse effects<br/>Hirschsprung Disease--diagnosis<br/>Humans<br/>Immunologic Deficiency Syndromes--diagnosis<br/>Immunophenotyping<br/>Osteochondrodysplasias--congenital<br/>Phenotype<br/>Primary Immunodeficiency Diseases<br/>Radiography<br/>Receptors, Antigen, T-Cell, alpha-beta--metabolism<br/>T-Lymphocytes--metabolism<br/>Transplantation, Homologous<br/>Treatment Outcome