Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance
Allergol. immunopatol
; 50(4): 1-9, jul. 2022. ilus, tab
Artigo
em Inglês
| IBECS
| ID: ibc-208888
Biblioteca responsável:
ES1.1
Localização: ES15.1 - BNCS
ABSTRACT
Monoallelic loss-of-function (LOF) mutations in the phosphatidylinositol 3-kinase (PIK3R1) gene affecting the inter-Src homology 2 domain of the p85α regulatory subunit of phosphoinositide-3-kinase δ (PI3Kδ) cause the activated PI3K δ syndrome (APDS2). APDS2 is defined as a primary antibody deficiency, developmental abnormalities within the B and T lymph cell compartments, and immune dysregulation. The genetic defect of APDS2 is shared with that of the SHORT syndrome, characterized by short stature, joint hyperextensibility, ocular depression, Rieger anomaly, and delayed tooth eruption. LOF variants in an intronic splice site (c.1425+1G.C/A/T) in the PI3KR1 gene have been identified in patients affected with both APDS2 and SHORT syndrome. Herein, we report a novel c.1644-1648del (p.Asp548Glufs*6) variant in a pediatric patient with the APDS2-related immunodeficiency, who presents with mild phenotypic fea-tures of the SHORT syndrome, congenital chest wall deformity, and IgE-mediated food allergy. The same variant was also identified in the patients hitherto asymptomatic mother, impli-cating an incomplete penetrance. Regular monitoring by a multidisciplinary team under the pediatric clinical immunologists supervision to implement appropriate diagnostic procedures and treatment modalities is of paramount importance. Further studies are required to better define the genotype-phenotype correlation in patients with the PIK3R1 gene mutations and to better delineate the mutual relationship between APDS2 and the SHORT syndrome (AU)
Texto completo:
Disponível
Coleções:
Bases de dados nacionais
/
Espanha
Base de dados:
IBECS
Assunto principal:
Fosfatidilinositol 3-Quinases
/
Penetrância
/
Transtornos do Crescimento
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Lipodistrofia
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Doenças Metabólicas
Limite:
Humanos
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Lactente
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Masculino
Idioma:
Inglês
Revista:
Allergol. immunopatol
Ano de publicação:
2022
Tipo de documento:
Artigo
Instituição/País de afiliação:
Centers for Medical Genetics GENESIS/Poland
/
Childrens Memorial Health Institute/Poland
/
Poznań University of Medical Sciences/Poland