No abstract available
Keywords:
Chronic mucocutaneous candidiasis; Combined immunodeficiency; Common variable immunodeficiency; Hematopoietic stem cell transplant; STAT1 gain of function.
Publication types
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Letter
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Candidiasis, Chronic Mucocutaneous / etiology
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DNA Mutational Analysis
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Female
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Gain of Function Mutation*
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Genetic Association Studies
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Genetic Predisposition to Disease*
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Hematopoietic Stem Cell Transplantation
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Heterozygote
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Humans
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Immunoglobulin A / blood
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Immunoglobulin G / blood
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Pedigree
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Phenotype
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STAT1 Transcription Factor / genetics*
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Severe Combined Immunodeficiency / complications
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Severe Combined Immunodeficiency / diagnosis*
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Severe Combined Immunodeficiency / genetics*
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Severe Combined Immunodeficiency / therapy
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Tomography, X-Ray Computed
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Young Adult
Substances
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Immunoglobulin A
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Immunoglobulin G
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STAT1 Transcription Factor
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STAT1 protein, human