ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia

Turk J Pediatr. 2023;65(4):698-703. doi: 10.24953/turkjped.2022.721.


Background: A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but normal lymphocyte development occurs due to certain molecule defects including ORAI1- and STIM1.

Case: A four-month-old girl sufferd from fever, restlessness, diarrhea, and poor weight gain following the neonatal period. There was consanguinity and a positive family history. She had hypotonia and spontaneous opisthotonic posture. Refractory and extensive CMV infections were detected; immunological investigations revealed normal quantitative immunoglobulins and low numbers of CD3+, CD4+, and CD8+ cells. The next generation sequencing analysis revealed a mutation in the ORAI1 gene.

Conclusions: The present patient`s history of refractory and widespread CMV infections shows a clinically substantial reduction in resistance against opportunistic microorganisms. This case emphasizes the importance of considering STIM1 and ORAI1 defects in patients with SCID phenotype and neurologic involvement, such as hypotonia.

Keywords: CMV infection; ORAI1 deficiency; primary immunodeficiency diseases.

Publication types

  • Case Reports

MeSH terms

  • CD8-Positive T-Lymphocytes
  • Cytomegalovirus Infections*
  • Diarrhea
  • Female
  • Fever
  • Humans
  • Muscle Hypotonia / genetics
  • ORAI1 Protein / genetics
  • Severe Combined Immunodeficiency* / complications
  • Severe Combined Immunodeficiency* / diagnosis
  • Severe Combined Immunodeficiency* / genetics


  • ORAI1 protein, human
  • ORAI1 Protein