ARDS as Presenting Symptom in an Infant with CD40L Deficiency (Hyper-IgM Syndrome Type 1)

Wiebe, Bea; Feyen, Oliver; Lenski, C; Pohlmann, Ulrike; Ehlen, Michael; Schofer, O.; Meindl, Alfons; Niehues, Tim; Bartmann, Peter

doi:10.1055/s-0029-1192041

Klin Padiatr

2009

DOI: 10.1055/s-0029-1192041

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ARDS as Presenting Symptom in an Infant with CD40L Deficiency (Hyper-IgM Syndrome Type 1)

Bea Wiebe¹,

Oliver Feyen²,

C Lenski³

et al.

Abstract: We report on a 4 month old male infant with respiratory syncytial virus (RSV) infection leading to acute respiratory distress syndrome (ARDS). A diagnostic algorithm including extended infectiological and immunological work-up revealed absence of CD40-ligand. ARDS was treated successfully with a complex respiratory therapy plus intravenous immunoglobulin substitution. Molecular analysis detected mutations in the CD40L gene (Hyper-IgM syndrome Type 1). The case underlines the importance of an extended diagnosti… Show more

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Cited by 2 publications

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“…Individual susceptibility varies greatly, with patients presenting with the same severity score having markedly different clinical outcomes (6). For this reason, studies have begun to investigate the role of genetics in determining survival during ALI (7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22).…”

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confidence: 99%

Functional Genomic Assessment of Phosgene-Induced Acute Lung Injury in Mice

Leikauf

Concel

Bein

et al. 2013

Am J Respir Cell Mol Biol

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In this study, a genetically diverse panel of 43 mouse strains was exposed to phosgene and genome-wide association mapping performed using a high-density single nucleotide polymorphism (SNP) assembly. Transcriptomic analysis was also used to improve the genetic resolution in the identification of genetic determinants of phosgene-induced acute lung injury (ALI). We prioritized the identified genes based on whether the encoded protein was previously associated with lung injury or contained a nonsynonymous SNP within a functional domain. Candidates were selected that contained a promoter SNP that could alter a putative transcription factor binding site and had variable expression by transcriptomic analyses. The latter two criteria also required that >10% of mice carried the minor allele and that this allele could account for >10% of the phenotypic difference noted between the strains at the phenotypic extremes. This integrative, functional approach revealed 14 candidate genes that included Atp1a1, Alox5, Galnt11, Hrh1, Mbd4, Phactr2, Plxnd1, Ptprt, Reln, and Zfand4, which had significant SNP associations, and Itga9, Man1a2, Mapk14, and Vwf, which had suggestive SNP associations. Of the genes with significant SNP associations, Atp1a1, Alox5, Plxnd1, Ptprt, and Zfand4 could be associated with ALI in several ways. Using a competitive electrophoretic mobility shift analysis, Atp1a1 promoter (rs215053185) oligonucleotide containing the minor G allele formed a major distinct faster-migrating complex. In addition, a gene with a suggestive SNP association, Itga9, is linked to transforming growth factor b1 signaling, which previously has been associated with the susceptibility to ALI in mice.

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mentioning

confidence: 99%

Functional Genomic Assessment of Phosgene-Induced Acute Lung Injury in Mice

Leikauf

Concel

Bein

et al. 2013

Am J Respir Cell Mol Biol

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Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome

Li¹,

Miao

et al. 2020

Medicine

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Introduction: X-linked hyper-IgM syndrome is a type of primary combined immunodeficiency disorder caused by mutations in CD40 ligand. Opportunistic infections caused by P jirovecii, cytomegalovirus (CMV), or fungi are frequently the first presenting symptom of the patients with X-linked hyper-IgM syndrome. Patient concerns: Here, we report a 10-month-old infant who presented with cyanosis and shortness of breath. The infant exhibited no medical or birth history indicating a primary immune deficiency and was first diagnosed with interstitial pneumonia and acute respiratory failure on admission. Diagnoses: The infant was diagnosed with Pneumocystis jirovecii pneumonia combined with CMV and fungal infection through gene sequencing by nasopharyngeal swab and G-test. Whole-exome sequencing from a blood sample was performed and identified a functional mutation across the CD40 ligand gene (NM_000074;exon1;C.86_87del) resulting in an amino acid change (P.T29Sfl∗18) attributed to X-linked hyper IgM syndrome. Interventions: The infant received continuous positive airway pressure ventilation treatment combined with trimethoprim-sulfamethoxazole for Pneumocystis jirovecii pneumonia, ganciclovir for CMV, voriconazole for fungal infection and substitution of high-dose immunoglobulin. Outcomes: Six months after discharge from our hospital, the infant remained well. Conclusion: Opportunistic infections should be suspected in infants presenting with severe interstitial pneumonia. Primary immune deficiency diseases should also be considered in infants diagnosed with opportunistic infections.

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ARDS as Presenting Symptom in an Infant with CD40L Deficiency (Hyper-IgM Syndrome Type 1)

Cited by 2 publications

References 14 publications

Functional Genomic Assessment of Phosgene-Induced Acute Lung Injury in Mice

Functional Genomic Assessment of Phosgene-Induced Acute Lung Injury in Mice

Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome

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