[MIM 618 042]

Acronym for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Extremely rare. Gain in function mutation of the OAS1 gene (12q24.13) coding for a protein of the family of the 2-5 interferon-induced synthetases that play an important role in the innate immune response to viral infections. This syndrome is part of the group of OPAID diseases, acronym for OAS1-associated Polymorphic Autoinflammatory Immunodeficiency.

Repeated infections. Alveolar proteinosis requiring frequent bronchoalveolar lavages. Need for bone marrow transplantation.

Anesthetic implications: 

frequent infections, aseptic precautions, bronchoalveolar lavages (see alveolar proteinosis)

References : 

• Reiter K, Schoen C, Griese M, Nicolai T.
  Whole-lung lavage in infants and children with pulmonary alveolar proteinosis.
  Pediatr Anesth 2010; 20: 1118-23.
• Cho K, Yamada M, Agematsu K et al.
  Heterozygius mutations in OAS1 cause infantile-onset pulmonary alveolar proteinosis with hypogammaglobulinemia.
  Am J Hum Genet 2018; 102: 480-6.
• Seidl E, Schramm D, Shön C, Reiter K, Pawlita I, Kappler M et al.
  Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: whole lung lavages for long-term bridging to hematopoietic stem cell transplantation.
  Pediatr Pulmonol 2022; 57:273-7.

Updated: December 2021