Monogenic Autoinflammatory Diseases Associated with Immunodeficiency

  • Michael J. OmbrelloEmail author


Despite the presence of accentuated inflammation, a subset of monogenic autoinflammatory disorders is also associated with increased susceptibility to infection. Mutations in PLCG2 cause autoinflammation in the context of immune dysregulation with antibody deficiency. Deficiency of components of the linear ubiquitin chain assembly complex (LUBAC) leads to severe autoinflammation with immunodeficiency in association with polyglucosan myopathy. Mutations in TRNT1 produce a syndrome of siderblastic anemia with B cell immunodeficiency, periodic fevers and developmental delay. Finally, patients with deficiency in WDR1 manifest autoinflammatory periodic fever, immunodeficiency and thrombocytopenia.


Immune deficiency Immune dysregulation PLCG2-associated antibody deficiency and immune dysregulation (PLAID) Autoinflammatory PLAID (APLAID) Deficiency of linear ubiquitination assembly complex (LUBAC) Sideroblastic anemia with B cell immunodeficiency, periodic fevers and developmental delay WDR1 deficiency 



Actin interacting protein


Anti-nuclear antibody


Autoinflammatory PLAID




C-reactive protein


Carboxy-terminal Src homology 2




Erythrocyte sedimentation rate


Fatty acid metabolic-immune nexus


Heme-oxidized IRP2 ubiquitin ligase 1


HOIL-1 interacting protein






Inositol triphosphate




Linear ubiquitination chain assembly complex


Mitogen-activated protein kinase


Myeloid differentiation primary response 88


Nuclear factor kappa-light-chain-enhancer of activated B cells


Natural killer


Nucleotide binding and oligomerization domain, leucine rich repeat, pyrin 3


Peripheral blood mononuclear cells


Periodic fever, immunodeficiency and thrombocytopenia


Phosphatidylinositol bisphosphate


PLCγ2-associated antibody deficiency and immune dysregulation


Phospholipase Cγ2


Receptor interacting protein 1


Reactive oxygen species


Receptor signaling complexes


 SHANK-associated RH domain-interacting protein like 1


Sideroblastic anemia with B cell immunodeficiency, periodic fevers and developmental delay


Tumor necrosis factor


tRNA nucleotidyltransferase


WD domain repeat containing protein 1


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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Intramural Research Program, Translational Genetics and Genomics UnitNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of HealthBethesdaUSA

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