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dc.contributor.author
Schreiner, Felix
dc.contributor.author
Schoenberger, Stefan
dc.contributor.author
Koester, Bernhard
dc.contributor.author
Domene, Horacio Mario
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dc.contributor.author
Woelfle, Joachim
dc.date.available
2016-11-10T20:23:43Z
dc.date.issued
2013-06
dc.identifier.citation
Schreiner, Felix; Schoenberger, Stefan; Koester, Bernhard; Domene, Horacio Mario; Woelfle, Joachim; Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction; Karger; Hormone Research; 80; 6; 6-2013; 424-430
dc.identifier.issn
0301-0163
dc.identifier.uri
http://hdl.handle.net/11336/8132
dc.description.abstract
We report a novel missense mutation p.T145K in the insulin-like growth factor (IGF) acid-labile subunit (IGFALS) gene identified in a Turkish patient with normal growth, transient pancytopenic episodes and signs of immunological dysfunction. Because of recurrent cutaneous mycoses and absence of pubertal development until the age of 14.75 years we determined several endocrine parameters in order to rule out autoimmune-polyendocrine syndromes. Despite a normal height between the 25th and 50th percentile we found severely decreased IGF-1 and undetectably low IGFBP-3 levels. Laboratory signs of immunological dysfunction included reduced total lymphocyte count with diminished B and T helper cell fractions, decreased serum concentrations of IgM and IgG subclass 4, and elevated antinuclear antibody and anti-dsDNA titers as well as persistently high interleukin-2-receptor levels. Further endocrine work-up revealed elevated fasting insulin and undetectably low ALS serum levels, leading to the diagnosis of ALS deficiency. Sequencing of the coding region of the IGFALS gene showed a novel homozygous missense mutation (c.434C>A; p.T145K). Since immunological abnormalities have not been reported in more than 20 ALS-deficient patients so far and our patient was born to consanguineous parents, a second autosomal recessive defect is likely to underlie the immunological phenotype, although a causative role of IGFALS p.T145K cannot be entirely ruled out.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Karger
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Insulin-Like Growth Factor
dc.subject
Igfals Mutation
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Acid-Labile Subunit
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Immunological Dysfunction
dc.subject.classification
Endocrinología y Metabolismo
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dc.subject.classification
Medicina Clínica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2016-11-10T13:48:35Z
dc.journal.volume
80
dc.journal.number
6
dc.journal.pagination
424-430
dc.journal.pais
Suiza
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dc.journal.ciudad
Basel
dc.description.fil
Fil: Schreiner, Felix. Universitaet Bonn; Alemania
dc.description.fil
Fil: Schoenberger, Stefan. Universitaet Bonn; Alemania
dc.description.fil
Fil: Koester, Bernhard. Children’s Hospital Luedenscheid; Alemania
dc.description.fil
Fil: Domene, Horacio Mario. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
dc.description.fil
Fil: Woelfle, Joachim. Universitaet Bonn; Alemania
dc.journal.title
Hormone Research
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.karger.com/Article/Abstract/355927
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1159/000355927
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