ArticleJournal of clinical immunology2019
Successful Allogenic Stem Cell Transplantation in Patients with Inherited CARD9 Deficiency.
Article in Journal of clinical immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 citations in OpenAlex.
- Deep and disseminated dermatophytosis in immunocompromised populations-A systematic review.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026Pooled it
- Host genetic susceptibility to mycetoma.PLoS neglected tropical diseases · 2020Pooled it
- Fungal Infections in Disorders of Inborn Errors of Immunity.Clinical reviews in allergy & immunology · 2026Review
- Inherited human CARD9 deficiency impairs lymphoid cell, but not fibroblast, IL-17-mediated immunity.JCI insight · 2026Article
- CARD9 Mutations in Patients with Invasive Fungal Infections.Mycopathologia · 2025Article
- Antifungal Susceptibility of Melanized Fungi Isolated from CARD9 Deficient Patients: Implications for Treatment of Refractory Infections.Mycopathologia · 2025Article
- Intracranial infections ofFrontiers in immunology · 2025Review
- Progress in molecular diagnosis and treatment of chronic mucocutaneous candidiasis.Frontiers in immunology · 2024Review
- Comparative analysis of whole genomes and transcriptomes ofEmerging microbes & infections · 2023Article
- Exploiting antifungal immunity in the clinical context.Seminars in immunology · 2023Review
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases.Journal of fungi (Basel, Switzerland) · 2023Review
- Ten decadal advances in fungal biology leading towards human well-being.Fungal diversity · 2022Review
- CARD9 Signaling, Inflammation, and Diseases.Frontiers in immunology · 2022Review
- Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.Journal of clinical immunology · 2021Article
- Article
- Disease Presentation, Treatment Options, and Outcomes for Myeloid Immunodeficiencies.Current allergy and asthma reports · 2021Review
- Past, Present, and Future of The Journal of Clinical Immunology, the International Journal of Inborn Errors of Immunity.Journal of clinical immunology · 2020Article
- Invasive Saprochaete capitata Infection in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature.Journal of clinical immunology · 2020Review
- Chronic Mucocutaneous Candidiasis in Early Life: Insights Into Immune Mechanisms and Novel Targeted Therapies.Frontiers in immunology · 2020Review
Corrections and comments
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Authors and funding
18 authors at 11 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive (AR) CARD9 (caspase recruitment domain-containing protein 9) deficiency underlies invasive infections by fungi of the ascomycete phylum in previously healthy individuals at almost any age. Although CARD9 is expressed mostly by myeloid cells, the cellular basis of fungal infections in patients with inherited CARD9 deficiency is unclear. Therapy for fungal infections is challenging, with at least 20% premature mortality. We report two unrelated patients from Brazil and Morocco with AR CARD9 deficiency, both successfully treated with hematopoietic stem cell transplantation (HSCT). From childhood onward, the patients had invasive dermatophytic disease, which persisted or recurred despite multiple courses of antifungal treatment. Sanger sequencing identified homozygous missense CARD9 variants at the same residue, c.302G>T (p.R101L) in the Brazilian patient and c.301C>T (p.R101C) in the Moroccan patient. At the ages of 25 and 44 years, respectively, they received a HSCT. The first patient received a HLA-matched HSCT from his CARD9-mutated heterozygous sister. There was 100% donor chimerism at D + 100. The other patient received a T cell-depleted haploidentical HSCT from his CARD9-mutated heterozygous brother. A second HSCT from the same donor was performed due to severe amegakaryocytic thrombocytopenia despite achieving full donor chimerism (100%). At last follow-up, more than 3 years after HSCT, both patients have achieved complete clinical remission and stopped antifungal therapy. HSCT might be a life-saving therapeutic option in patients with AR CARD9 deficiency. This observation strongly suggests that the pathogenesis of fungal infections in these patients is largely due to the disruption of leukocyte-mediated CARD9 immunity.
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