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Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS. Bardou MLD, et al. J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. doi: 10.1016/j.jped.2020.10.015. Epub 2020 Dec 19. J Pediatr (Rio J). 2021. PMID: 33347837 Free PMC article. Review.
Congenital thrombocytopenia, syndromes with DNA repair defect, immuno-osseous dysplasias, thymic defects, Hyper IgE Syndrome, anhidrotic ectodermal dysplasia with immunodeficiency and purine nucleoside phosphorylase deficiency were addressed. ...
Congenital thrombocytopenia, syndromes with DNA repair defect, immuno-osseous dysplasias, thymic defects, Hyper IgE Syndrome, anhidro …
X-linked immunodeficiencies.
Ochs HD, Notarangelo LD. Ochs HD, et al. Curr Allergy Asthma Rep. 2004 Sep;4(5):339-48. doi: 10.1007/s11882-004-0082-5. Curr Allergy Asthma Rep. 2004. PMID: 15283872 Review.