Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient

Lauren Gunderman, Jeffrey Brown, Sonali Chaudhury, Maurice O’Gorman, Ramsay Fuleihan, Aaruni Khanolkar*, Aisha Ahmed*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

We present a unique and unusual case of a male patient diagnosed with two coexisting and typically unassociated X-linked conditions: he was initially diagnosed with X-linked agammaglobulinemia (XLA) followed by a diagnosis of X-linked chronic granulomatous disease (XCGD) and an as of yet unpublished hypomorphic gp91phox variant in the CYBB gene. The latter was tested after the finding of granulomatous gingivitis. Hematopoietic stem cell transplant (HSCT) was performed due to severe colitis and nodular regenerative hyperplasia (NRH) of the liver. Following transplant, complete donor engraftment was observed with the restoration of a normal oxidative burst and full restoration of normal levels of circulating, mature CD19+ B cells. This case is singular in that it does not involve a contiguous gene syndrome in which deleted genes are in close proximity to either BTK and CYBB, which has been previously reported. To our knowledge, this is the first reported case of XLA and XCGD co-existing in a single patient and of having both inborn errors of immunity successfully treated by HSCT.

Original languageEnglish (US)
Article number959
JournalBiomedicines
Volume11
Issue number3
DOIs
StatePublished - Mar 2023

Keywords

  • BTK
  • HSCT
  • X-linked agammaglobulinemia
  • X-linked chronic granulomatous disease
  • XLA
  • multi-genetic diagnosis

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine (miscellaneous)

Fingerprint

Dive into the research topics of 'Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient'. Together they form a unique fingerprint.

Cite this