Blast From the Past: Reaffirming a Late-Recognized, Not Late-Onset, CGD Carrier

Q: What does this research mean for the field?

Certain cases of Chronic Granulomatous Disease (CGD) carrier status are late-recognized rather than late-onset. Novelty: ClaimNovelty.CONFIRMATORY. Consensus alignment: ConsensusAlignment.NEUTRAL.

Maxwell Olenski; Flora Poon; Callum Maggs; Amy Crowe; Jonathan Darby

doi:10.1093/cid/ciag564

September 11, 2026Clinical Infectious DiseasesOpen Access

Blast From the Past: Reaffirming a Late-Recognized, Not Late-Onset, CGD Carrier

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Key Points

To re-evaluate the clinical presentation of an adult chronic granulomatous disease carrier and distinguish delayed clinical recognition from true late-onset pathology.
Clinical and laboratory evaluation of an adult female presenting with features consistent with a carrier state of chronic granulomatous disease.
Review of immunological parameters, medical history, and genetic markers to confirm lifelong carrier status.
Diagnostic investigation verified that the patient's presentation represented a late-recognized carrier state rather than adult-onset immunodeficiency.
Variable Lyonization led to partial functional phagocyte impairment, explaining late-identified clinical vulnerability to chronic infections.

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Implication

Case report demonstrates delayed diagnosis in an adult chronic granulomatous disease carrier, highlighting ongoing risks in unrecognized female carriers.

Abstract

Maxwell Olenski, Flora Poon, Callum Maggs, Amy Crowe, Jonathan Darby; Blast From the Past: Reaffirming a Late-Recognized, Not Late-Onset, CGD Carrier, Clin

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Cite This Study

Olenski et al. (2026) studied this question.

synapsesocial.com/papers/6aa7b3950926e14a848b29b4 https://doi.org/10.1093/cid/ciag564

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Blast From the Past: Reaffirming a Late-Recognized, Not Late-Onset, CGD Carrier

Key Points

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Implication

Abstract

Discussion

Cite This Study

Blast From the Past: Reaffirming a Late-Recognized, Not Late-Onset, CGD Carrier

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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