Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings | Zendy

Yusuke Imanaka | Zendy; Maki Taniguchi | Zendy; Takehiko Doi | Zendy; Miyuki Tsumura | Zendy; Rie Nagaoka | Zendy; Maiko Shimomura | Zendy; Takaki Asano | Zendy; Reiko Kagawa | Zendy; Yoko Mizoguchi | Zendy; Shuhei Karakawa | Zendy; Koji Arihiro | Zendy; Kohsuke Imai | Zendy; Tomohiro Morio | Zendy; JeanLaurent Casanova | Zendy; Anne Puel | Zendy; Osamu Ohara | Zendy; Katsuhiko Kamei | Zendy; Masao Kobayashi | Zendy; Satoshi Okada | Zendy

Open Access

Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings

Author(s) -

Yusuke Imanaka,

Maki Taniguchi,

Takehiko Doi,

Miyuki Tsumura,

Rie Nagaoka,

Maiko Shimomura,

Takaki Asano,

Reiko Kagawa,

Yoko Mizoguchi,

Shuhei Karakawa,

Koji Arihiro,

Kohsuke Imai,

Tomohiro Morio,

JeanLaurent Casanova,

Anne Puel,

Osamu Ohara,

Katsuhiko Kamei,

Masao Kobayashi,

Satoshi Okada

Publication year - 2021

Publication title -

journal of clinical immunology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.739

H-Index - 96

eISSN - 1573-2592

pISSN - 0271-9142

DOI - 10.1007/s10875-021-00988-7

Subject(s) - asymptomatic , penetrance , biology , immunology , compound heterozygosity , asymptomatic carrier , disease , medicine , phenotype , pathology , gene , genetics

Autosomal recessive CARD9 deficiency predisposes patients to invasive fungal disease. Candida and Trichophyton species are major causes of fungal disease in these patients. Other CARD9-deficient patients display invasive diseases caused by other fungi, such as Exophiala spp. The clinical penetrance of CARD9 deficiency regarding fungal disease is surprisingly not complete until adulthood, though the age remains unclear. Moreover, the immunological features of genetically confirmed yet asymptomatic individuals with CARD9 deficiency have not been reported.

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