Article
Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report.
BMC pediatrics - 5 Apr 2022
Francisco Junior Ronaldo da Silva, de Morais Guilherme Loss, de Carvalho Joseane Biso, Dos Santos Ferreira Cristina, Gerber Alexandra Lehmkuhl, de C Guimarães Ana Paula, Amendola Flávia Anisio, Pinto-Mariz Fernanda, de Vasconcelos Zilton Farias Meira, Goudouris Ekaterini Simões, de Vasconcelos Ana Tereza Ribeiro
Abstract excerpt
BACKGROUND: X-linked agammaglobulinemia (XLA) is an Inborn Errors of Immunity (IEI) characterized by pan-hypogammaglobulinemia and low numbers of B lymphocytes due to mutations in BTK gene. Usually, XLA patients are not susceptible to respiratory tract infections by viruses and do not present interstitial lung disease (ILD) such as bronchiolitis obliterans (BO) as a consequence of acute or chronic bacterial...
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