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. 2024 Dec;12(12):3452-3456.e1.
doi: 10.1016/j.jaip.2024.09.018. Epub 2024 Sep 25.

Severe clinical phenotypes of heterozygous females with X-linked chronic granulomatous disease

Niraj C Patel  1 , M Elizabeth M Younger  2 , Kelli Williams  3 , Joao Pedro Matias Lopes  4 , Douglas B Kuhns  5 , Meera N Patel  6 , Mary Ann Miranda  7 , Beatriz E Marciano  8 , Christin Lawler Deal  9 , Jennifer W Leiding  10
Affiliations

Severe clinical phenotypes of heterozygous females with X-linked chronic granulomatous disease

Niraj C Patel et al. J Allergy Clin Immunol Pract. 2024 Dec.
No abstract available

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Figures

Figure 1:
Figure 1:
Patient 1 presenting with pyoderma gangrenosum of the left breast before (left side) and after (right side) cyclosporin administration for 12 months.
Figure E1.
Figure E1.
DHR trend consistent with a severe CGD phenotype in a 4-year-old symptomatic female XL-CGD carrier (Patient 6) over a period of 13 months. %DHR+ testing was repeated every 6 months to monitor immune status and determine if escalation of therapy was warranted.
Figure E2.
Figure E2.
Family pedigree for a symptomatic XL-CGD carrier (Patient 3) with an extensive family history of CGD. The patient’s carrier status was identified at 13 years of age following her brothers’ CGD diagnosis; however, the patient’s own immune status was not evaluated until age 15 years when she presented with eczematous dermatitis and open ear and chest wounds.
See this image and copyright information in PMC

References

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