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SHR Neuro Krebs Kardio Lipid

Seidel, MG; Duerr, C; Woutsas, S; Schwerin-Nagel, A; Sadeghi, K; Neesen, J; Uhrig, S; Santos-Valente, E; Pickl, WF; Schwinger, W; Urban, C; Boztug, K; Förster-Waldl, E.
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
J Med Genet. 2014; 51(4):254-263 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Autor/innen der Med Uni Graz:
Schwerin-Nagel Anette
Schwinger Wolfgang
Seidel Markus
Uhrig Sabine
Urban Ernst-Christian

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Subtelomeric deletions and duplications may cause syndromic disorders that include features of immunodeficiency. To date, no phenotype of immunological pathology has been linked to partial trisomy 19. We report here on two unrelated male patients showing clinical and laboratory signs of immunodeficiency exhibiting a duplication involving Chromosome 19p13. Both patients underwent a detailed clinical examination. Extended laboratory investigations for immune function, FISH and array comparative genome hybridization (CGH) analyses were performed. The reported patients were born prematurely with intrauterine growth retardation and share clinical features including neurological impairment, facial dysmorphy and urogenital malformations. Array CGH analyses of both patients showed a largely overlapping terminal duplication affecting Chromosome 19p13. In both affected individuals, the clinical course was marked by recurrent severe infections. Signs of humoral immunodeficiency were detected, including selective antibody deficiency against polysaccharide antigens in patient 1 and reduced IgG1, IgG3 subclass levels and IgM deficiency in patient 2. Class-switched B memory cells were almost absent in both patients. Normal numbers of T cells, B cells and natural killer cells were observed in both boys. Lymphocytic proliferation showed no consistent functional pathology, however, function of granulocytes and monocytes as assessed by oxidative burst test was moderately reduced. Moreover, natural killer cytotoxicity was reduced in both patients. Immunoglobulin substitution resulted in a decreased number and severity of infections and improved thriving in both patients. Partial trisomy 19p13 represents a syndromic disorder associating organ malformation and hitherto unrecognised immunodeficiency.

Find related publications in this database (Keywords)
array CGH
syndrome with primary immunodeficiency (PID)
subtelomeric microduplication and microdeletion
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