Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1

The role of class IA phosphoinositide 3 kinases (PI3Ks) in immune function and regulation continues to expand with the identification of greater numbers of genetic variants. This case report is the second reported case of a homozygous premature stop codon within the PIK3R1 gene leading to autosomal...

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Bibliographic Details
Published in:Journal of clinical immunology 2018, Vol.38 (1), p.88-95
Main Authors: Tang, Paoyun, Upton, Julia E. M., Barton-Forbes, Michelle A., Salvadori, Marina I., Clynick, Meghan P., Price, April K., Goobie, Sharan L.
Format: Article
Language:English
Subjects:
Agammaglobulinemia
Agammaglobulinemia - diagnosis
Agammaglobulinemia - genetics
Amino acids
Biomedical and Life Sciences
Biomedicine
Consanguinity
Female
Genetic diversity
Genetic screening
Hemorrhage
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Hypogammaglobulinemia
Immune response
Immunology
Immunoregulation
Infant
Infants
Infectious Diseases
Internal Medicine
Lacrimal gland and Nasolacrimal duct
Lymphocytes B
Male
Medical Microbiology
Mutation
Mutation - genetics
Neutropenia
Nonsense mutation
Original Article
Pedigree
Phosphatidylinositol 3-Kinases - genetics
Purpura
Stop codon
Thrombocytopenia
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Summary:The role of class IA phosphoinositide 3 kinases (PI3Ks) in immune function and regulation continues to expand with the identification of greater numbers of genetic variants. This case report is the second reported case of a homozygous premature stop codon within the PIK3R1 gene leading to autosomal recessive agammaglobulinemia. The proband, born to consanguineous parents, presented at 10 months of age with a history of oropharyngeal petechiae and bleeding from the mouth, gums, and tear ducts. Initial investigations revealed thrombocytopenia, neutropenia and the absence of B cells. Further genetic testing via a custom next-generation sequencing panel confirmed the presence of a homozygous mutation in PIK3R1 , c.901 C>T, a premature stop codon at amino acid position 301. Given their many roles in immune regulation, recessive mutations in the PlK3R1 gene should be considered in infants presenting with hypogammaglobulinemia or agammaglobulinemia, particularly in the setting of parental consanguinity.
ISSN:0271-9142
1573-2592
DOI:10.1007/s10875-017-0462-y