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Primary Immune Regulatory Disorder

MedGen UID:
1787543
•Concept ID:
C5447325
•
Disease or Syndrome
Synonyms: PIRD; Primary Immune Dysregulation Disorder

Definition

A group of immune diseases characterized predominantly by immune dysregulation leading to organ-specific autoimmunity, excessive inflammation, and non-malignant lymphoproliferation. Unlike classical primary immunodeficiencies, susceptibility to infections is typically less prominent in these disorders. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary Immune Regulatory Disorder

Professional guidelines

PubMed

Clinical utility of measuring CD4(+) T follicular cells in patients with immune dysregulation.
LaBere B, Nguyen AA, Habiballah SB, Elkins M, Imperial J, Li B, Devana S, Timilsina S, Stubbs SB, Joerger J, Chou J, Platt CD
J Autoimmun 2023 Nov;140:103088. Epub 2023 Aug 5 doi: 10.1016/j.jaut.2023.103088. PMID: 37549449Free PMC Article

Recent clinical studies

Etiology

De novo mutations promote inflammation in children with STAT3 gain-of-function syndrome by affecting IL-1β expression.
Chen JY, Li YF, Zhou Z, Jiang XM, Bi X, Yang MF, Zhao B
Int Immunopharmacol 2024 Oct 25;140:112755. Epub 2024 Aug 3 doi: 10.1016/j.intimp.2024.112755. PMID: 39098225
Clinical utility of measuring CD4(+) T follicular cells in patients with immune dysregulation.
LaBere B, Nguyen AA, Habiballah SB, Elkins M, Imperial J, Li B, Devana S, Timilsina S, Stubbs SB, Joerger J, Chou J, Platt CD
J Autoimmun 2023 Nov;140:103088. Epub 2023 Aug 5 doi: 10.1016/j.jaut.2023.103088. PMID: 37549449Free PMC Article
The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.
Seidel MG, Tesch VK, Yang L, Hauck F, Horn AL, Smolle MA, Quehenberger F, Benesch M
J Clin Immunol 2022 Apr;42(3):484-498. Epub 2021 Nov 19 doi: 10.1007/s10875-021-01177-2. PMID: 34797428Free PMC Article
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.
Schiavo E, Martini B, Attardi E, Consonni F, Ciullini Mannurita S, Coniglio ML, Tellini M, Chiocca E, Fotzi I, Luti L, D'Alba I, Veltroni M, Favre C, Gambineri E
Front Immunol 2021;12:790455. Epub 2022 Jan 4 doi: 10.3389/fimmu.2021.790455. PMID: 35058929Free PMC Article
Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.
López-Nevado M, Docampo-Cordeiro J, Ramos JT, Rodríguez-Pena R, Gil-López C, Sánchez-Ramón S, Gil-Herrera J, Díaz-Madroñero MJ, Delgado-Martín MA, Morales-Pérez P, Paz-Artal E, Magerus A, Rieux-Laucat F, Allende LM
Front Immunol 2021;12:656356. Epub 2021 Apr 29 doi: 10.3389/fimmu.2021.656356. PMID: 33995372Free PMC Article

Diagnosis

FOXP3 deficiency, from the mechanisms of the disease to curative strategies.
Borna S, Meffre E, Bacchetta R
Immunol Rev 2024 Mar;322(1):244-258. Epub 2023 Nov 23 doi: 10.1111/imr.13289. PMID: 37994657
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies.
Consonni F, Gambineri E, Favre C
Ann Hematol 2022 Mar;101(3):469-484. Epub 2022 Jan 20 doi: 10.1007/s00277-022-04761-7. PMID: 35059842Free PMC Article
The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.
Seidel MG, Tesch VK, Yang L, Hauck F, Horn AL, Smolle MA, Quehenberger F, Benesch M
J Clin Immunol 2022 Apr;42(3):484-498. Epub 2021 Nov 19 doi: 10.1007/s10875-021-01177-2. PMID: 34797428Free PMC Article
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.
Schiavo E, Martini B, Attardi E, Consonni F, Ciullini Mannurita S, Coniglio ML, Tellini M, Chiocca E, Fotzi I, Luti L, D'Alba I, Veltroni M, Favre C, Gambineri E
Front Immunol 2021;12:790455. Epub 2022 Jan 4 doi: 10.3389/fimmu.2021.790455. PMID: 35058929Free PMC Article
Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.
López-Nevado M, Docampo-Cordeiro J, Ramos JT, Rodríguez-Pena R, Gil-López C, Sánchez-Ramón S, Gil-Herrera J, Díaz-Madroñero MJ, Delgado-Martín MA, Morales-Pérez P, Paz-Artal E, Magerus A, Rieux-Laucat F, Allende LM
Front Immunol 2021;12:656356. Epub 2021 Apr 29 doi: 10.3389/fimmu.2021.656356. PMID: 33995372Free PMC Article

Therapy

Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.
Schiavo E, Martini B, Attardi E, Consonni F, Ciullini Mannurita S, Coniglio ML, Tellini M, Chiocca E, Fotzi I, Luti L, D'Alba I, Veltroni M, Favre C, Gambineri E
Front Immunol 2021;12:790455. Epub 2022 Jan 4 doi: 10.3389/fimmu.2021.790455. PMID: 35058929Free PMC Article

Prognosis

Human genetic errors of immunity illuminate an adaptive arsenal model of rapid defenses.
Lucas CL
Trends Immunol 2024 Feb;45(2):113-126. Epub 2024 Jan 31 doi: 10.1016/j.it.2023.12.006. PMID: 38302340

Clinical prediction guides

Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series.
Jamee M, Sharafian S, Eslami N, Bayegi SN, Keramatipour M, Nabavi M, Shokri S, Shakiba M, Shamsian BS, Abolghasemi H, Vahidshahi K, Khanbabaee G, Armin S, Chavoshzadeh Z, Mesdaghi M
Allergol Immunopathol (Madr) 2024;52(5):6-14. Epub 2024 Sep 1 doi: 10.15586/aei.v52i5.1115. PMID: 39278845
De novo mutations promote inflammation in children with STAT3 gain-of-function syndrome by affecting IL-1β expression.
Chen JY, Li YF, Zhou Z, Jiang XM, Bi X, Yang MF, Zhao B
Int Immunopharmacol 2024 Oct 25;140:112755. Epub 2024 Aug 3 doi: 10.1016/j.intimp.2024.112755. PMID: 39098225
Human genetic errors of immunity illuminate an adaptive arsenal model of rapid defenses.
Lucas CL
Trends Immunol 2024 Feb;45(2):113-126. Epub 2024 Jan 31 doi: 10.1016/j.it.2023.12.006. PMID: 38302340
The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.
Seidel MG, Tesch VK, Yang L, Hauck F, Horn AL, Smolle MA, Quehenberger F, Benesch M
J Clin Immunol 2022 Apr;42(3):484-498. Epub 2021 Nov 19 doi: 10.1007/s10875-021-01177-2. PMID: 34797428Free PMC Article

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