Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity

Tangye SG(2022)Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee J Clin Immunol 42 1473-507

Al-Herz W(2019)Inborn errors of immunity with Immune Dysregulation: from bench to Bedside Front Pediatr 7 353-4

Bousfiha A(2021)Clinical utility of whole exome sequencing and targeted panels for the identification of inborn errors of immunity in a resource-constrained setting Front Immunol 12 665621-20

Cunningham-Rundles C(2014)Utility of next generation sequencing in clinical primary immunodeficiencies Curr Allergy Asthma Rep 14 468-32

Franco JL(2015)Genomics is rapidly advancing precision medicine for immunological disorders Nat Immunol 16 1001-9

Holland SM(2019)Targeted NGS platforms for genetic screening and Gene Discovery in primary immunodeficiencies Front Immunol 10 316-9

Delmonte OM(2021)Inborn errors of immunity in the premature infant: Challenges in Recognition and diagnosis Front Immunol 12 758373-303

Castagnoli R(2021)Exome-wide search for genes Associated with Central Nervous System Inflammatory demyelinating Diseases following CHIKV infection: the tip of the Iceberg Front Genet 12 639364-92

Calzoni E(2021)Whole-exome sequencing reveals insights into genetic susceptibility to congenital Zika Syndrome PLoS Negl Trop Dis 15 e0009507-24

Notarangelo LD(2022)Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report BMC Pediatr 22 181-80

Tangye SG(2022)Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee J Clin Immunol 42 1473-507

Al-Herz W(2019)Inborn errors of immunity with Immune Dysregulation: from bench to Bedside Front Pediatr 7 353-4

Bousfiha A(2021)Clinical utility of whole exome sequencing and targeted panels for the identification of inborn errors of immunity in a resource-constrained setting Front Immunol 12 665621-20

Cunningham-Rundles C(2014)Utility of next generation sequencing in clinical primary immunodeficiencies Curr Allergy Asthma Rep 14 468-32

Franco JL(2015)Genomics is rapidly advancing precision medicine for immunological disorders Nat Immunol 16 1001-9

Holland SM(2019)Targeted NGS platforms for genetic screening and Gene Discovery in primary immunodeficiencies Front Immunol 10 316-9

Delmonte OM(2021)Inborn errors of immunity in the premature infant: Challenges in Recognition and diagnosis Front Immunol 12 758373-303

Castagnoli R(2021)Exome-wide search for genes Associated with Central Nervous System Inflammatory demyelinating Diseases following CHIKV infection: the tip of the Iceberg Front Genet 12 639364-92

Calzoni E(2021)Whole-exome sequencing reveals insights into genetic susceptibility to congenital Zika Syndrome PLoS Negl Trop Dis 15 e0009507-24

Notarangelo LD(2022)Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report BMC Pediatr 22 181-80