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CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10108093

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited

About this item

Full title

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited

Publisher

New York: Springer US

Journal title

Journal of clinical immunology, 2022-02, Vol.42 (2), p.336-349

Language

English

Formats

Publication information

Publisher

New York: Springer US

More information

Scope and Contents

Contents

Background
CARD9 deficiency is an autosomal recessive primary immunodeficiency underlying increased susceptibility to fungal infection primarily presenting as invasive CNS
Candida
and/or cutaneous/invasive dermatophyte infections. More recently, a rare heterozygous dominant negative
CARD9
variant c.1434 + 1G > C was reported to be pr...

Alternative Titles

Full title

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10108093

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10108093

Other Identifiers

ISSN

0271-9142

E-ISSN

1573-2592

DOI

10.1007/s10875-021-01173-6

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