X-linked CD40 ligand deficiency in a 1-year-old male Shih Tzu with secondary Pneumocystis pneumonia

Kristen Merrill, Emily Coffey, Eva Furrow, Isabelle Masseau, Hansjörg Rindt, Carol Reinero

Research output: Contribution to journalArticlepeer-review

Abstract

An approximately 1-year-old male intact Shih Tzu dog was referred to a tertiary facility with a history of progressive tachypnea, increased respiratory effort, and weight loss over a 3-month period that failed to improve with empirical antimicrobial treatment. Upon completion of a comprehensive respiratory evaluation, the dog was diagnosed with severe Pneumocystis pneumonia and secondary pulmonary hypertension. Clinical signs resolved and disease resolution was confirmed after completion of an 8-week course of trimethoprim-sulfonamide, 4-week tapering dose of prednisone to decrease an inflammatory response secondary to acute die-off of organisms, a 2-week course of clopidogrel to prevent clot formation, and a 2-week course of a phosphodiesterase-5 inhibitor to treat pulmonary hypertension. Immunodiagnostic testing and genetic sequencing were performed to evaluate for potential immunodeficiency as an underlying cause for the development Pneumocystis pneumonia, and identified an X-linked CD40 ligand deficiency.

Original languageEnglish (US)
Pages (from-to)497-503
Number of pages7
JournalJournal of veterinary internal medicine
Volume35
Issue number1
DOIs
StatePublished - Jan 1 2021

Bibliographical note

Funding Information:
Funding was provided for support of Emily Coffey by NIH ORIP K01 Mentored Research Scientist Development Award (1K01OD019912). Funding for the immunologic assays performed provided by the Cisco and Izzy Fund for Immunologic Research. We gratefully acknowledge Steven Friedenberg and Jonah Cullen for developing and running the bioinformatics pipeline for whole genome sequencing analysis, as well as Katie Minor for developing and optimizing the PCR protocol. CD40L

Publisher Copyright:
© 2020 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC. on behalf of the American College of Veterinary Internal Medicine.

Keywords

  • gene mapping
  • genetic markers
  • immunodeficiency
  • infectious diseases
  • pneumonia
  • thoracic imaging

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