Abstract
We present a patient with Smith-Lemli-Opitz syndrome with immunodeficiency. The patient suffered numerous infectious episodes, atopic dermatitis and wheezing. Immunological investigations demonstrated severely reduced oxidative burst-responsiveness of the blood monocytes, whereas chemotaxis, phagocytosis and interleukin-1 production were normal. Tests of neutrophils and lymphocytes were normal excluding previously described immune deficiency disorders. The father proved to have diminished monocyte oxidative metabolism as well, whereas the mother had normal monocyte function. The genetic and immunological aspects are discussed in relation to the syndrome.
MeSH terms
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / immunology
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Abnormalities, Multiple / metabolism*
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Cryptorchidism / genetics
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Cryptorchidism / immunology
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Cryptorchidism / metabolism
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Dermatoglyphics
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Face / abnormalities*
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Family
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Fever of Unknown Origin / etiology
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Fever of Unknown Origin / metabolism
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Foot Deformities, Congenital / genetics
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Foot Deformities, Congenital / immunology
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Foot Deformities, Congenital / metabolism
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Growth Disorders / genetics
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Growth Disorders / immunology
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Growth Disorders / metabolism*
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Hand Deformities, Congenital / genetics
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Hand Deformities, Congenital / immunology
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Hand Deformities, Congenital / metabolism
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Humans
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Infant
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Intellectual Disability / genetics
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Intellectual Disability / immunology
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Intellectual Disability / metabolism*
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Male
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Monocytes / metabolism*
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Oxidation-Reduction
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Respiratory Tract Infections / etiology
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Respiratory Tract Infections / metabolism
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Superoxides / metabolism
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Syndrome