Immunological profile of patients with skeletal dysplasia and disproportionate short stature

Introduction Skeletal dysplasia is a clinically diverse and genetically heterogeneous group of disorders affecting skeletal development among which several phenotypes could be associated with manifestations of immunodeficiency (ID). In many cases, these manifestations may be attributed to the original anatomical and physiological derangement caused by the genetic abnormality, but in other cases, there could be a concurrent primary defect in the immune system. These cases are called to have syndromic ID. Aim This study aimed to unravel syndromic ID among cases with skeletal dysplasias and disproportionate short stature and to specify a set of laboratory investigations that could be used as a panel for initial evaluation of suspected cases. Patients and methods This is an observational case–control single-center study, in which 25 patients with disproportionate dwarfism owing to skeletal dysplasia, along with 20 healthy participants matched for age and sex, were included. Both patients and controls were categorized into two age groups: from 0 to 3 years and from more than 3 to 15 years. Results Results of the study revealed the presence of nine cases of syndromic ID in the studied patients, that is, five in the younger age group (from 0 to 3 years) and four in the older age group (from >3 to 15 years), with a prevalence rate that equals 36% among the studied population. Conclusion The present work emphasizes the importance of screening for syndromic IDs in providing proper genetic counseling for patients and optimizing clinical care given by providing early and appropriate treatment. The implementation of flow cytometric measurement of lymphocyte subsets and immunoglobulin (Ig) quantification in cases suspected of having syndromic ID have shown to be useful as an initial panel for immunological evaluation of patients.