CARD9 Deficiency Mimicking Hyper-IgE Syndrome: A Case Report of Two Siblings With Invasive Fungal Infections
Infectious Diseases in Clinical Practice, cilt.34, sa.5, ss.1-3, 2026 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 34 Sayı: 5
- Basım Tarihi: 2026
- Doi Numarası: 10.1097/ipc.0000000000001668
- Dergi Adı: Infectious Diseases in Clinical Practice
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, EMBASE
- Sayfa Sayıları: ss.1-3
- Anahtar Kelimeler: CARD9 deficiency, fungal arthritis, hyper-IgE syndrome, invasive candidiasis, primary immunodeficiency
- Çukurova Üniversitesi Adresli: Evet
Özet
Caspase recruitment domain-containing protein 9 (CARD9) deficiency is a rare primary immunodeficiency characterized by a profound susceptibility to invasive fungal infections. Given its significant phenotypic overlap with hyper-IgE syndrome (HIES)—most notably, markedly elevated serum IgE levels—misdiagnosis remains a perilous clinical pitfall. We present 2 siblings from a consanguineous family harboring a rare homozygous nonsense mutation (c.32G>A, p.Trp11*) in the CARD9 gene, both presenting with severe invasive candidiasis. Case 1 developed vertebral osteomyelitis and central nervous system abscesses, while case 2 presented with fungal arthritis. Alarmingly, case 2 was misdiagnosed with juvenile idiopathic arthritis and erroneously treated with potent immunosuppressants, risking a catastrophic exacerbation of the fungal pathology. Following molecular confirmation, both were scheduled for curative hematopoietic stem cell transplantation. This report underscores the imperative of considering CARD9 deficiency in HIES-like presentations to avert detrimental immunosuppressive interventions.