Literature DB >> 32451832

Mystery of a Family with Recurrent Male Infant Deaths- Solved by Autopsy and Molecular Tests.

Nameirakpam Johnson1, Akriti Bansal2, Ankush Jindal1, Vijai Williams1, Debajyoti Chatterjee2, Biman Saikia3, Pandiarajan Vignesh4, Amit Rawat1.   

Abstract

The authors report a case of a six weeks old boy who presented with acute febrile illness and progressive abdominal distension. There was a significant family history of early male sibling deaths. Autopsy showed multiorgan abscesses. Molecular test revealed final diagnosis of the child.

Entities:  

Keywords:  Acute abdominal distension. Immunodeficiency disorder. Chronic granulomatous disease. Aspergillus. Burkholderia cenocepacia

Year:  2020        PMID: 32451832     DOI: 10.1007/s12098-020-03304-0

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  1 in total

1.  Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency.

Authors:  S D Fugmann; S Müller; W Friedrich; C R Bartram; K Schwarz
Journal:  Hum Genet       Date:  1998-12       Impact factor: 4.132

  1 in total

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