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Congenital Disorder of Natural Immunity

MedGen UID:: 232098
•Concept ID:: C1333144
•: Disease or Syndrome

Definition

A broad classification of inherited disorders presenting at birth that affect the initial immunologic response to infection. In these disorders, the primary role of innate immunity to detect and neutralize pathogens which the individual has not been previously exposed is decreased or ineffective. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital Disorder of Natural Immunity

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Congenital Disorder of Natural Immunity
        Chronic granulomatous disease
        Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
        Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
        Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
        Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
        Granulomatous disease, chronic, X-linked
        Chédiak-Higashi syndrome
        Aleutian mink disease
        Leukocyte adhesion deficiency
        Leukocyte adhesion deficiency 1
        Leukocyte adhesion deficiency 3
        Leukocyte adhesion deficiency type II
        Neutrophil Actin Defect

Professional guidelines

PubMed

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.

Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R
J Clin Invest 2018 Jul 2;128(7):3041-3052. Epub 2018 Jun 11 doi: 10.1172/JCI98814. PMID: 29649002 Free PMC Article

Atopic dermatitis in diverse racial and ethnic groups-Variations in epidemiology, genetics, clinical presentation and treatment.

Kaufman BP, Guttman-Yassky E, Alexis AF
Exp Dermatol 2018 Apr;27(4):340-357. doi: 10.1111/exd.13514. PMID: 29457272

A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.

Coll RC, Robertson AA, Chae JJ, Higgins SC, Muñoz-Planillo R, Inserra MC, Vetter I, Dungan LS, Monks BG, Stutz A, Croker DE, Butler MS, Haneklaus M, Sutton CE, Núñez G, Latz E, Kastner DL, Mills KH, Masters SL, Schroder K, Cooper MA, O'Neill LA
Nat Med 2015 Mar;21(3):248-55. Epub 2015 Feb 16 doi: 10.1038/nm.3806. PMID: 25686105 Free PMC Article

See all (83)

Recent clinical studies

Etiology

R-loop-derived cytoplasmic RNA-DNA hybrids activate an immune response.

Crossley MP, Song C, Bocek MJ, Choi JH, Kousouros JN, Sathirachinda A, Lin C, Brickner JR, Bai G, Lans H, Vermeulen W, Abu-Remaileh M, Cimprich KA
Nature 2023 Jan;613(7942):187-194. Epub 2022 Dec 21 doi: 10.1038/s41586-022-05545-9. PMID: 36544021 Free PMC Article

NLRP12-associated systemic autoinflammatory diseases in children.

Wang HF
Pediatr Rheumatol Online J 2022 Feb 5;20(1):9. doi: 10.1186/s12969-022-00669-8. PMID: 35123508 Free PMC Article

Monogenic Adult-Onset Inborn Errors of Immunity.

Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, Humblet-Baron S, Liston A, Vanderschueren S, Schrijvers R
Front Immunol 2021;12:753978. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.753978. PMID: 34867986 Free PMC Article

Systemic autoinflammatory disease in adults.

Betrains A, Staels F, Schrijvers R, Meyts I, Humblet-Baron S, De Langhe E, Wouters C, Blockmans D, Vanderschueren S
Autoimmun Rev 2021 Apr;20(4):102774. Epub 2021 Feb 17 doi: 10.1016/j.autrev.2021.102774. PMID: 33609798

Hyperferritinemia and inflammation.

Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437 Free PMC Article

See all (907)

Diagnosis

NLRP12-associated systemic autoinflammatory diseases in children.

Wang HF
Pediatr Rheumatol Online J 2022 Feb 5;20(1):9. doi: 10.1186/s12969-022-00669-8. PMID: 35123508 Free PMC Article

Monogenic Adult-Onset Inborn Errors of Immunity.

Systemic autoinflammatory disease in adults.

Periodic fever syndromes.

Lachmann HJ
Best Pract Res Clin Rheumatol 2017 Aug;31(4):596-609. Epub 2018 Jan 11 doi: 10.1016/j.berh.2017.12.001. PMID: 29773275

Rubella.

Lambert N, Strebel P, Orenstein W, Icenogle J, Poland GA
Lancet 2015 Jun 6;385(9984):2297-307. Epub 2015 Jan 8 doi: 10.1016/S0140-6736(14)60539-0. PMID: 25576992 Free PMC Article

See all (661)

Therapy

Lethal immunotoxicity in high-dose systemic AAV therapy.

Duan D
Mol Ther 2023 Nov 1;31(11):3123-3126. Epub 2023 Oct 10 doi: 10.1016/j.ymthe.2023.10.015. PMID: 37822079 Free PMC Article

Periodic fever syndromes.

Lachmann HJ
Best Pract Res Clin Rheumatol 2017 Aug;31(4):596-609. Epub 2018 Jan 11 doi: 10.1016/j.berh.2017.12.001. PMID: 29773275

A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.

Rubella.

Lambert N, Strebel P, Orenstein W, Icenogle J, Poland GA
Lancet 2015 Jun 6;385(9984):2297-307. Epub 2015 Jan 8 doi: 10.1016/S0140-6736(14)60539-0. PMID: 25576992 Free PMC Article

Post-splenectomy and hyposplenic states.

Di Sabatino A, Carsetti R, Corazza GR
Lancet 2011 Jul 2;378(9785):86-97. Epub 2011 Apr 5 doi: 10.1016/S0140-6736(10)61493-6. PMID: 21474172

See all (557)

Prognosis

Molecular Mechanisms of Atopic Dermatitis Pathogenesis.

Sroka-Tomaszewska J, Trzeciak M
Int J Mol Sci 2021 Apr 16;22(8) doi: 10.3390/ijms22084130. PMID: 33923629 Free PMC Article

Immunopathogenesis of Behcet's Disease.

Tong B, Liu X, Xiao J, Su G
Front Immunol 2019;10:665. Epub 2019 Mar 29 doi: 10.3389/fimmu.2019.00665. PMID: 30984205 Free PMC Article

The microbiome in patients with atopic dermatitis.

Paller AS, Kong HH, Seed P, Naik S, Scharschmidt TC, Gallo RL, Luger T, Irvine AD
J Allergy Clin Immunol 2019 Jan;143(1):26-35. Epub 2018 Nov 23 doi: 10.1016/j.jaci.2018.11.015. PMID: 30476499 Free PMC Article

Hyperferritinemia and inflammation.

Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437 Free PMC Article

Post-splenectomy and hyposplenic states.

Di Sabatino A, Carsetti R, Corazza GR
Lancet 2011 Jul 2;378(9785):86-97. Epub 2011 Apr 5 doi: 10.1016/S0140-6736(10)61493-6. PMID: 21474172

See all (379)

Clinical prediction guides

Lethal immunotoxicity in high-dose systemic AAV therapy.

Duan D
Mol Ther 2023 Nov 1;31(11):3123-3126. Epub 2023 Oct 10 doi: 10.1016/j.ymthe.2023.10.015. PMID: 37822079 Free PMC Article

R-loop-derived cytoplasmic RNA-DNA hybrids activate an immune response.

Genetic and Epigenetic Aspects of Atopic Dermatitis.

Nedoszytko B, Reszka E, Gutowska-Owsiak D, Trzeciak M, Lange M, Jarczak J, Niedoszytko M, Jablonska E, Romantowski J, Strapagiel D, Skokowski J, Siekierzycka A, Nowicki RJ, Dobrucki IT, Zaryczańska A, Kalinowski L
Int J Mol Sci 2020 Sep 4;21(18) doi: 10.3390/ijms21186484. PMID: 32899887 Free PMC Article

Behçet's disease: review with emphasis on dermatological aspects.

Scherrer MAR, Rocha VB, Garcia LC
An Bras Dermatol 2017 Jul-Aug;92(4):452-464. doi: 10.1590/abd1806-4841.20177359. PMID: 28954091 Free PMC Article

Hyperferritinemia and inflammation.

Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437 Free PMC Article

See all (702)

Recent systematic reviews

Behçet's Disease: A Comprehensive Review on the Role of HLA-B*51, Antigen Presentation, and Inflammatory Cascade.

Khoshbakht S, Başkurt D, Vural A, Vural S
Int J Mol Sci 2023 Nov 16;24(22) doi: 10.3390/ijms242216382. PMID: 38003572 Free PMC Article

Association between innate immunity gene polymorphisms and neonatal sepsis development: a systematic review and meta-analysis.

Sljivancanin Jakovljevic T, Martic J, Jacimovic J, Nikolic N, Milasin J, Mitrović TL
World J Pediatr 2022 Oct;18(10):654-670. Epub 2022 Jun 6 doi: 10.1007/s12519-022-00569-7. PMID: 35666457

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

Atopic dermatitis in the elderly: a review of clinical and pathophysiological hallmarks.

Williamson S, Merritt J, De Benedetto A
Br J Dermatol 2020 Jan;182(1):47-54. Epub 2019 Jul 28 doi: 10.1111/bjd.17896. PMID: 30895603

Atopic dermatitis: the skin barrier and beyond.

Tsakok T, Woolf R, Smith CH, Weidinger S, Flohr C
Br J Dermatol 2019 Mar;180(3):464-474. Epub 2018 Oct 10 doi: 10.1111/bjd.16934. PMID: 29969827

See all (9)

MedGen

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Congenital Disorder of Natural Immunity

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

Related information

Recent activity