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Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency

  • Ankur Kumar Jindal
  • Deepti SuriEmail author
  • Sandesh Guleria
  • Amit Rawat
  • Sumit Garg
  • Amanjit Bal
  • Jean-Laurent Casanova
  • Jacinta Bustamante
  • Surjit Singh
Letter to Editor
  • 21 Downloads

To the Editor

Mendelian susceptibility to mycobacterial diseases (MSMD) is a group of rare primary immunodeficiency (PID) diseases characterized by defects of IL-12/IFN-γ pathway. The defect predisposes an individual for infections with unusual intracellular organisms typically mycobacteria and salmonella [1, 2]. Autoimmune manifestations only rarely develop in these patients [3, 4, 5, 6, 7, 8]. We report one such patient with IL-12 receptor β1 defect who had recurrent Salmonella typhi infection, leukocytoclastic vasculitis, and autoimmune hemolytic anemia.

Index boy was symptomatic since the age of 1 month. He was being treated at a local health care facility before referral. At 1 month of age, he was diagnosed to have Bacillus Calmette–Guérin (BCG) lymphadenitis. He also had recurrent episodes of dysentery, oral thrush, and purulent ear discharge. At 6 years of age, he started developing multiple pus discharging sinuses in the right leg and forearm. This was managed as tubercular...

Keywords

Coombs test corticosteroids hemolysis IL-12 receptor β1 deficiency Salmonella typhi vasculitis 

Notes

Compliance with Ethical Standards

Conflict of Interests

The authors declared that they have no conflict of interest.

Supplementary material

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Supplementary Figure 1

Colonic biopsy showing features of activity in the form of crypt distortion and crypt loss and chronicity in the form of cryptitis and crypt abscess (A; H&E, 40X), (B; H&E, 100X), (C; H&E, 200X), Negative for acid fast bacilli (D; ZN stain, 1000X) (PNG 7475 kb)

10875_2019_637_MOESM1_ESM.tif (2.4 mb)
High Resolution Image (TIF 2471 kb)
10875_2019_637_MOESM2_ESM.docx (12 kb)
Supplementary Table 1 Laboratory investigations (DOCX 12 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Ankur Kumar Jindal
    • 1
  • Deepti Suri
    • 1
    Email author
  • Sandesh Guleria
    • 1
  • Amit Rawat
    • 1
  • Sumit Garg
    • 2
  • Amanjit Bal
    • 2
  • Jean-Laurent Casanova
    • 3
    • 4
    • 5
    • 6
    • 7
  • Jacinta Bustamante
    • 3
    • 4
    • 6
    • 8
  • Surjit Singh
    • 1
  1. 1.Department of Pediatrics, Allergy Immunology Unit, Advanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia
  2. 2.Department of HistopathologyPostgraduate Institute of Medical Education and ResearchChandigarhIndia
  3. 3.Laboratory of Human Genetics of Infectious DiseasesInstitut National de la Santé et de la Recherche MédicaleParisFrance
  4. 4.Imagine InstituteParis Descartes UniversityParisFrance
  5. 5.St. Giles Laboratory of Human Genetics of Infectious DiseasesThe Rockefeller UniversityNew YorkUSA
  6. 6.Pediatric Hematology-Immunology UnitNecker Hospital for Sick Children, AP-HPParisFrance
  7. 7.Howard Hughes Medical InstituteNew YorkUSA
  8. 8.Center for the Study of Primary ImmunodeficienciesNecker Hospital for Sick ChildrenParisFrance

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