Analysis of Clinical and Immunologic Phenotype in a Large Cohort of Children and Adults with Cartilage-hair Hypoplasia

In our cohort of individuals with cartilage-hair hypoplasia 1) over 25% of patients manifest clinical combined immunodeficiency and they have lower CD3+, CD8+ and recent thymic emigrant counts; 2) specific antibody deficiency may exist; 3) low IgG2 levels associate with severe varicella.

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of allergy and clinical immunology 2017-08, Vol.140 (2), p.612-614.e5
Hauptverfasser:	Kostjukovits, Svetlana, MD, Klemetti, Paula, MD, PhD, Valta, Helena, MD, PhD, Martelius, Timi, MD, PhD, Notarangelo, Luigi D., MD, Seppänen, Mikko, MD, PhD, Taskinen, Mervi, MD, PhD, Mäkitie, Outi, MD, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age Allergy and Immunology Anemia Antibodies Basal cell carcinoma Biomarkers Bone marrow Cartilage Cartilage-hair hypoplasia CD19 antigen CD3 antigen CD4 antigen CD8 antigen Cell cycle Chicken pox Child Children Cohort Studies Finland Genotype & phenotype Hair Hair - abnormalities Hair - immunology Hirschsprung Disease - diagnosis Hirschsprung Disease - immunology Humans Hypoplasia Immunity Immunodeficiency Immunoglobulin A Immunoglobulin G Immunoglobulins Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - immunology Immunologic Memory Immunophenotyping Infections Laboratories Leukocytes (neutrophilic) Lymphocyte Subsets - immunology Lymphocyte Subsets - metabolism Lymphocytes Lymphocytes T Lymphoma Medicin och hälsovetenskap Mortality Mutation Neutrophils Osteochondrodysplasias - congenital Osteochondrodysplasias - diagnosis Osteochondrodysplasias - immunology Otitis media Phenotype Stem cells Studies Tetanus Thymus Transplantation Transplants & implants Uterus Vaccines Varicella Viruses
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Beschreibung
Zusammenfassung:	In our cohort of individuals with cartilage-hair hypoplasia 1) over 25% of patients manifest clinical combined immunodeficiency and they have lower CD3+, CD8+ and recent thymic emigrant counts; 2) specific antibody deficiency may exist; 3) low IgG2 levels associate with severe varicella.
ISSN:	0091-6749 1097-6825 1097-6825
DOI:	10.1016/j.jaci.2017.02.016