Atypical phenotype? The answer's in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency

Rheumatology (Oxford). 2021 Jul 1;60(7):e240-e242. doi: 10.1093/rheumatology/keab051.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agammaglobulinaemia Tyrosine Kinase / genetics*
  • Agammaglobulinemia / complications*
  • Agammaglobulinemia / diagnosis
  • Agammaglobulinemia / genetics
  • Autoimmune Diseases of the Nervous System / complications*
  • Autoimmune Diseases of the Nervous System / diagnosis
  • Autoimmune Diseases of the Nervous System / genetics
  • Child
  • Consanguinity
  • Exome Sequencing
  • Genetic Diseases, X-Linked / complications*
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Male
  • Nervous System Malformations / complications*
  • Nervous System Malformations / diagnosis
  • Nervous System Malformations / genetics
  • Ribonuclease H / genetics*

Substances

  • Agammaglobulinaemia Tyrosine Kinase
  • BTK protein, human
  • ribonuclease HII
  • Ribonuclease H

Supplementary concepts

  • Aicardi-Goutieres syndrome
  • Bruton type agammaglobulinemia