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Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.

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第一作者: Ana,García-García
第一单位: Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.;Institut de Recerca Sant Joan de Déu, Barcelona, Spain.;Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain.
作者单位: Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.;Institut de Recerca Sant Joan de Déu, Barcelona, Spain.;Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain. [1] Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.;Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.;Interdepartmental group of Immunodeficiencies, Madrid, Spain. [2] Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain. [3] Pediatric Neurology Department. Hospital Sant Joan de Déu, Barcelona, Spain.;U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. [4] Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain.;Immunology Service, Biomedic Diagnostic Center, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain. [5] Servei de Medicina Interna, Unitat Funcional d'Immunodeficiències Primàries de l'Adult, Hospital Univerisitari de Bellvitge, IDIBELL. L'Hospitalet de Llobregat, Barcelona, Spain. [6] Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA. [7] Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.;Institut de Recerca Sant Joan de Déu, Barcelona, Spain.;Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain.;Universitat de Barcelona, Barcelona, Spain. [8]
DOI 10.1111/pai.13398
PMID 33098103
发布时间 2021-08-18
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Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

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