Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia

Immunol Lett. 2014 Oct;161(2):222-5. doi: 10.1016/j.imlet.2013.11.018. Epub 2013 Dec 4.

Abstract

Recurrent or prolonged severe infections associated to panleukopenia strongly suggest primary immune disorders. In recent years, new immunodeficiency syndromes turned up: besides the importance of continuous clinical characterization throughout added reports, the phenotype can easily lead to diagnosis of known rare entities. Our purpose is to review main emerging genetic syndromes featuring lymphopenia combined to neutropenia and/or monocytopenia in order to facilitate diagnosis of rare primary immune deficiencies.

Keywords: G6PC3 deficiency; GATA-2 deficiency; Primary immunodeficiency; SCID; STK4 deficiency; WHIM syndrome.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • GATA2 Transcription Factor / deficiency
  • Glucosephosphate Dehydrogenase Deficiency / diagnosis
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / immunology*
  • Intracellular Signaling Peptides and Proteins
  • Leukopenia / diagnosis*
  • Lymphopenia / diagnosis
  • Monocytes*
  • Neutropenia / diagnosis*
  • Primary Immunodeficiency Diseases
  • Protein Serine-Threonine Kinases / deficiency
  • Warts / diagnosis

Substances

  • GATA2 Transcription Factor
  • Intracellular Signaling Peptides and Proteins
  • STK4 protein, human
  • Protein Serine-Threonine Kinases

Supplementary concepts

  • WHIM syndrome