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Background <p>Non-<i>Aspergillus</i> invasive fungal infections (NAFI) are increasingly reported in patients with Chronic Granulomatous Disease (CGD), but precise clinical descriptions remain scarce.</p> Objective and Methods <p>We conducted a retrospective analysis of NAFI cases among CGD patients in the French National Registry of Primary Immunodeficiencies (CEREDIH) and in a comprehensive literature review.</p> Results <p>We identified 16 proven NAFI (9 molds, 6 yeasts and 1 <i>Pneumocystis</i>) among 263 CGD patients from CEREDIH and included an additional 106 probable/proven NAFI from a literature review (75 molds, 29 yeasts, 1 <i>Pneumocystis,</i> 1 dimorphic<i>).</i> Mold NAFI occurred at a median age of 17&#xa0;years [IQR 9–23], and were mostly located to the lungs (79%, 65/82). Mold NAFI were breakthrough in 59% of patients (35/59), and 24% were receiving immunosuppressive treatments (13/54, mostly high-dose corticosteroids, n = 11). Lung surgical biopsies yielded the highest diagnostic rate (39/39) compared to less invasive methods (BAL 8/18 and transthoracic punctures 8/12). Nine patients with mold NAFI, including 3 refractory cases, were cured after Hematopoietic Stem Cell Transplantation (HSCT). Overall mortality for mold NAFI was 25% (20/81). Yeast infections occurred at a median age of 5&#xa0;years [IQR 0–13], and 36% were receiving immunosuppressive treatments (5/14, mostly anti-TNF agents, n = 4). Infections were frequently located to lymph nodes or lungs, and 64% (21/33) were disseminated. Two yeast NAFI were cured after HSCT. Mortality was 26% (7/27).</p> Conclusion <p>NAFI in CGD patients are frequently severe, often occur despite prophylaxis and under additional immunosuppression, commonly require invasive procedures for diagnosis, and may be effectively managed with HSCT.</p>

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Consecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review

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  • 发表日期：

    2025年11月6日

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  • Leïla Lefevre,
  • Olivier Paccoud,
  • Bénédicte Neven,
  • Marie-Elisabeth Bougnoux,
  • Mickaël Alligon,
  • Julie Bruneau,
  • Alain Fischer,
  • Despina Moshous,
  • Jacinta Bustamante,
  • Capucine Picard,
  • Sylvain Poiree,
  • Romain Guery,
  • Martin Castelle,
  • Felipe Suarez,
  • Ambroise Marcais,
  • Morgane Cheminant,
  • Claire Rouzaud,
  • Dea Garcia Hermoso,
  • Hélène Salvator,
  • Emilie Catherinot,
  • Benoit Pilmis,
  • Luminita Luca,
  • Jean-Paul Brion,
  • Matthieu Revest,
  • Virginie Gandemer,
  • Lucie Lelievre,
  • Muriel Alvarez,
  • Anne Conrad,
  • Fanny Fouyssac,
  • Catherine Gaud,
  • Sophie Blumental,
  • Stéphane Blanche,
  • Olivier Lortholary,
  • Nizar Mahlaoui,
  • Fanny Lanternier

摘要

Background

Non-Aspergillus invasive fungal infections (NAFI) are increasingly reported in patients with Chronic Granulomatous Disease (CGD), but precise clinical descriptions remain scarce.

Objective and Methods

We conducted a retrospective analysis of NAFI cases among CGD patients in the French National Registry of Primary Immunodeficiencies (CEREDIH) and in a comprehensive literature review.

Results

We identified 16 proven NAFI (9 molds, 6 yeasts and 1 Pneumocystis) among 263 CGD patients from CEREDIH and included an additional 106 probable/proven NAFI from a literature review (75 molds, 29 yeasts, 1 Pneumocystis, 1 dimorphic). Mold NAFI occurred at a median age of 17 years [IQR 9–23], and were mostly located to the lungs (79%, 65/82). Mold NAFI were breakthrough in 59% of patients (35/59), and 24% were receiving immunosuppressive treatments (13/54, mostly high-dose corticosteroids, n = 11). Lung surgical biopsies yielded the highest diagnostic rate (39/39) compared to less invasive methods (BAL 8/18 and transthoracic punctures 8/12). Nine patients with mold NAFI, including 3 refractory cases, were cured after Hematopoietic Stem Cell Transplantation (HSCT). Overall mortality for mold NAFI was 25% (20/81). Yeast infections occurred at a median age of 5 years [IQR 0–13], and 36% were receiving immunosuppressive treatments (5/14, mostly anti-TNF agents, n = 4). Infections were frequently located to lymph nodes or lungs, and 64% (21/33) were disseminated. Two yeast NAFI were cured after HSCT. Mortality was 26% (7/27).

Conclusion

NAFI in CGD patients are frequently severe, often occur despite prophylaxis and under additional immunosuppression, commonly require invasive procedures for diagnosis, and may be effectively managed with HSCT.