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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPrimary Immune Regulatory Disorder

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Immune System and Related Disorders
        Immune system disorder
        Primary Immune Regulatory Disorder

Professional guidelines

PubMed

Severe COVID-19 outcomes after full vaccination of primary schedule and initial boosters: pooled analysis of national prospective cohort studies of 30 million individuals in England, Northern Ireland, Scotland, and Wales.

Agrawal U, Bedston S, McCowan C, Oke J, Patterson L, Robertson C, Akbari A, Azcoaga-Lorenzo A, Bradley DT, Fagbamigbe AF, Grange Z, Hall ECR, Joy M, Katikireddi SV, Kerr S, Ritchie L, Murphy S, Owen RK, Rudan I, Shah SA, Simpson CR, Torabi F, Tsang RSM, de Lusignan S, Lyons RA, O'Reilly D, Sheikh A
Lancet 2022 Oct 15;400(10360):1305-1320. doi: 10.1016/S0140-6736(22)01656-7. PMID: 36244382 Free PMC Article

Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.

López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM
Front Immunol 2021;12:671755. Epub 2021 Aug 10 doi: 10.3389/fimmu.2021.671755. PMID: 34447369 Free PMC Article

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC
Nature 2020 Jul;583(7814):90-95. Epub 2020 May 6 doi: 10.1038/s41586-020-2265-1. PMID: 32499645 Free PMC Article

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Recent clinical studies

Etiology

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: 34797428 Free 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: 35058929 Free 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: 33995372 Free PMC Article

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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: 35059842 Free PMC Article

The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.

Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.

Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.

See all (5)