Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis

Clin Immunol. 2020 Apr:213:108365. doi: 10.1016/j.clim.2020.108365. Epub 2020 Feb 21.

Abstract

Leukocyte adhesion deficiency type III (LAD-III) is caused by mutations in FERMT3 that encodes Kindlin-3 which regulates integrins activation. LAD-III predisposes to infections and bleeding. Osteopetrosis was reported in some cases. We report three patients who presented as malignant infantile osteopetrosis. One had recurrent infections and none had bleeding. Exome sequencing revealed a novel homozygous mutation in FERMT3 c.1555C > T (p.Gln519Ter). Two patients underwent successful hematopoietic stem cell transplant (HSCT) from matched siblings with resolution of osteopetrosis. The third patient died secondary to sepsis prior to HSCT. Our results support early HSCT in LAD-III prior to the occurrence of life-threatening complications.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Hematopoietic Stem Cell Transplantation / methods*
  • Humans
  • Infant
  • Infant, Newborn
  • Leukocyte-Adhesion Deficiency Syndrome / complications*
  • Leukocyte-Adhesion Deficiency Syndrome / therapy*
  • Male
  • Membrane Proteins / genetics
  • Mutation
  • Neoplasm Proteins / genetics
  • Osteopetrosis / genetics*

Substances

  • FERMT3 protein, human
  • Membrane Proteins
  • Neoplasm Proteins

Supplementary concepts

  • Leukocyte Adhesion Deficiency, Type III