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Erschienen in: Journal of Clinical Immunology 5/2020

19.06.2020 | Original Article

Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series

verfasst von: Faustine Lhomme, Thierry Peyrard, Jérôme Babinet, Wadih Abou-Chahla, Isabelle Durieu, Despina Moshous, Bénédicte Neven, Pierre-Simon Rohrlich, Souha Albinni, Denise Amiranoff, Marie-Dominique Dumont, Olivier Lortholary, Sébastien Héritier, Christophe Marguet, Felipe Suarez, Alain Fischer, Stéphane Blanche, Olivier Hermine, Nizar Mahlaoui

Erschienen in: Journal of Clinical Immunology | Ausgabe 5/2020

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Abstract

Background

X-linked chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the CYBB gene (located on Xp21.1). Patients with large deletions on chromosome Xp21.1 can present with the McLeod phenotype and also Duchenne muscular dystrophy or retinitis pigmentosa. The objective of the present study was to describe a series of French patients with CGD and the McLeod phenotype.

Methods

We retrospectively collected data from the medical records of 8 patients with CGD and the McLeod phenotype registered at the French National Reference Center for blood types.

Results

The median age at diagnosis of CGD was 1.2 years, the median age at diagnosis of the McLeod phenotype was 4.5 years, and the median length of follow-up was 15.2 years. Four patients displayed allo-immunization, with anti-KEL20 and anti-XK1 (formerly known as anti-KL) antibodies. Five of the 6 patients with available blood smears had acanthocytosis. Neuropsychiatric, muscle-related, and ocular manifestations were present in 4, 2, and 1 of the patients, respectively. Three of the 4 patients having undergone allogeneic hematopoietic stem cell transplantation (HSCT) are alive. Overall, 5 patients are alive, and 3 are alive and well.

Conclusion

This is the largest yet descriptive study of a series of patients with X-linked CGD and the McLeod phenotype. Although this disease combination is rare, the timely, accurate diagnosis of the McLeod phenotype is critical because of the serious post-transfusion complications. However, HSCT can be considered in these patients.
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Metadaten
Titel
Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series
verfasst von
Faustine Lhomme
Thierry Peyrard
Jérôme Babinet
Wadih Abou-Chahla
Isabelle Durieu
Despina Moshous
Bénédicte Neven
Pierre-Simon Rohrlich
Souha Albinni
Denise Amiranoff
Marie-Dominique Dumont
Olivier Lortholary
Sébastien Héritier
Christophe Marguet
Felipe Suarez
Alain Fischer
Stéphane Blanche
Olivier Hermine
Nizar Mahlaoui
Publikationsdatum
19.06.2020
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 5/2020
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00791-w

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