[Primary immunodeficiencies in seriously ill children: Report of 3 clinical cases]

Rev Chil Pediatr. 2017 Feb;88(1):136-141. doi: 10.1016/j.rchipe.2016.07.011.
[Article in Spanish]

Abstract

Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder.

Objective: To present and discuss 3 infants diagnosed with PID.

Clinical cases: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease. The second patient was an 8-month-old infant with Candida lusitaniae mesenteric adenitis, and diagnosed with a Chronic Granulomatous Disease. The last patient, a 6-month-old infant presented with ecthyma gangrenosum and X-linked agammaglobulinaemia.

Conclusion: PID should be suspected when an infectious disease does not responde to the appropriate therapy within the expected period. An update of each disease is presented.

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinemia / diagnosis*
  • Agammaglobulinemia / immunology
  • Agammaglobulinemia / physiopathology
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / immunology
  • Genetic Diseases, X-Linked / physiopathology
  • Granulomatous Disease, Chronic / diagnosis*
  • Granulomatous Disease, Chronic / immunology
  • Granulomatous Disease, Chronic / physiopathology
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / immunology
  • Immunologic Deficiency Syndromes / physiopathology
  • Infant
  • Intensive Care Units, Pediatric
  • Male
  • Severity of Illness Index

Supplementary concepts

  • Bruton type agammaglobulinemia