Liza J McCann Jo McPartland Dawn Barge Lisa Strain David Bourn Eduardo Calonje Julian Verbov Andrew Riordan George Kokai Chris M Bacon Michael Wright Mario Abinun
10.1007/s10875-013-9962-6
J Clin Immunol
2014 Jan;34(1):42-8.
NO-CC CODE
https://pubmed.ncbi.nlm.nih.gov/24217815/
Hair / abnormalities Hirschsprung Disease / diagnosis Immunologic Deficiency Syndromes / diagnosis Osteochondrodysplasias / congenital Phenotype
Hair / abnormalities Hirschsprung Disease / diagnosis Immunologic Deficiency Syndromes / diagnosis Osteochondrodysplasias / congenital Phenotype Case Reports Bone and Bones / diagnostic imaging Child, Preschool Dermatitis / pathology Dwarfism Female Granuloma / pathology Hematopoietic Stem Cell Transplantation / adverse effects Hirschsprung Disease / genetics Hirschsprung Disease / therapy Humans Immunologic Deficiency Syndromes / genetics Immunologic Deficiency Syndromes / therapy Immunophenotyping Osteochondrodysplasias / diagnosis Osteochondrodysplasias / genetics Osteochondrodysplasias / therapy Primary Immunodeficiency Diseases Radiography Receptors, Antigen, T-Cell, alpha-beta / metabolism T-Lymphocytes / metabolism Transplantation, Homologous Treatment Outcome Receptors, Antigen, T-Cell, alpha-beta Cartilage-hair hypoplasia T cell immunodeficiency primary
PMC7086599
24217815
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
2014