DISEASE: Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Entry
H01743 Disease
Name
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Description
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is a rare autosomal dominant autoinflammatory disease characterized by early-onset recurrent erythematous plaques and vesiculopustular skin lesions associated with arthralgia, corneal erosions, and interstitial pneumonia. APLAID is an allelic disorder of PLCG2-associated antibody deficiency and immune dysregulation (PLAID) with some overlapping features. A recent study demonstrated that a family with an autoinflammatory disease was found to have point mutations in the same CSH2 domain of PLCG2. The patients identified with APLAID developed recurrent sinopulmonary infections presumably due to a lack of class-switched memory B cells on lymphocyte immunophenotyping. The patients were partially responsive to anakinra and to high-dose corticosteroids.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Autoinflammatory disorders
4A60 Monogenic autoinflammatory syndromes
H01743 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06537 TCR/BCR signaling
H01743 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I
Title
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria, is an autosomal dominant inflammatory disease that is characterized by episodes of rash, arthralgia, fever, conjunctivitis, and leukocytosis after generalized exposure to cold.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Autoinflammatory disorders
4A60 Monogenic autoinflammatory syndromes
H02159 Familial cold autoinflammatory syndrome
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06521 NLR signaling
H02159 Familial cold autoinflammatory syndrome
nt06537 TCR/BCR signaling
H02159 Familial cold autoinflammatory syndrome
Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, Fiore M, Delfino L, Lasiglie D, Ferraris C, Traggiai E, Di Duca M, Santamaria G, D'Osualdo A, Tosca M, Martini A, Ceccherini I, Rubartelli A, Gattorno M
Title
Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.
Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD
Title
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
