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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]

Professional guidelines

PubMed

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: 29649002Free PMC Article
Kaufman BP, Guttman-Yassky E, Alexis AF
Exp Dermatol 2018 Apr;27(4):340-357. doi: 10.1111/exd.13514. PMID: 29457272
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: 25686105Free PMC Article

Recent clinical studies

Etiology

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: 36544021Free PMC Article
Wang HF
Pediatr Rheumatol Online J 2022 Feb 5;20(1):9. doi: 10.1186/s12969-022-00669-8. PMID: 35123508Free PMC Article
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: 34867986Free PMC Article
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
Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437Free PMC Article

Diagnosis

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: 34867986Free PMC Article
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
Devonshire AL, Makhija M
Allergy Asthma Proc 2019 Nov 1;40(6):465-469. doi: 10.2500/aap.2019.40.4273. PMID: 31690396
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
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: 25576992Free PMC Article

Therapy

Lek A, Wong B, Keeler A, Blackwood M, Ma K, Huang S, Sylvia K, Batista AR, Artinian R, Kokoski D, Parajuli S, Putra J, Carreon CK, Lidov H, Woodman K, Pajusalu S, Spinazzola JM, Gallagher T, LaRovere J, Balderson D, Black L, Sutton K, Horgan R, Lek M, Flotte T
N Engl J Med 2023 Sep 28;389(13):1203-1210. doi: 10.1056/NEJMoa2307798. PMID: 37754285
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
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: 25686105Free PMC Article
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: 25576992Free PMC Article
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

Prognosis

Sroka-Tomaszewska J, Trzeciak M
Int J Mol Sci 2021 Apr 16;22(8) doi: 10.3390/ijms22084130. PMID: 33923629Free PMC Article
Tong B, Liu X, Xiao J, Su G
Front Immunol 2019;10:665. Epub 2019 Mar 29 doi: 10.3389/fimmu.2019.00665. PMID: 30984205Free PMC Article
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: 30476499Free PMC Article
Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437Free PMC Article
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

Clinical prediction guides

Manfredi M, Van Hoovels L, Benucci M, De Luca R, Coccia C, Bernardini P, Russo E, Amedei A, Guiducci S, Grossi V, Bossuyt X, Perricone C, Infantino M
Autoimmun Rev 2023 May;22(5):103295. Epub 2023 Feb 11 doi: 10.1016/j.autrev.2023.103295. PMID: 36781037
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: 36544021Free PMC Article
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: 32899887Free PMC Article
Scherrer MAR, Rocha VB, Garcia LC
An Bras Dermatol 2017 Jul-Aug;92(4):452-464. doi: 10.1590/abd1806-4841.20177359. PMID: 28954091Free PMC Article
Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437Free PMC Article

Recent systematic reviews

Khoshbakht S, Başkurt D, Vural A, Vural S
Int J Mol Sci 2023 Nov 16;24(22) doi: 10.3390/ijms242216382. PMID: 38003572Free PMC Article
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
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: 34447369Free PMC Article
Abd Hamid IJ, Azman NA, Gennery AR, Mangantig E, Hashim IF, Zainudeen ZT
Front Immunol 2020;11:1923. Epub 2020 Aug 26 doi: 10.3389/fimmu.2020.01923. PMID: 32983118Free PMC Article
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

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