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Congenital Defects of Phagocyte Number, Function, or Both

MedGen UID:
1785758
•Concept ID:
C5447318
•
Disease or Syndrome
Synonyms: Congenital Defect of Phagocyte; Congenital Defects of Phagocytes; Congenital Phagocytic Defect; Congenital Phagocytic Disease; Congenital Phagocytic Disorder

Definition

A group of diseases or disorders caused by genetic defects within the immune system and comprising: Congenital neutropenia; Defects of motility; Defects of respiratory burst; and other nonlymphoid defects. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Defects of Phagocyte Number, Function, or Both

Professional guidelines

PubMed

Primary immunodeficiency disease: a retrospective study of 112 Chinese children in a single tertiary care center.
Wu J, Zhong W, Yin Y, Zhang H
BMC Pediatr 2019 Nov 4;19(1):410. doi: 10.1186/s12887-019-1729-7. PMID: 31684895Free PMC Article
Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry.
Aghamohammadi A, Mohammadinejad P, Abolhassani H, Mirminachi B, Movahedi M, Gharagozlou M, Parvaneh N, Zeiaee V, Mirsaeed-Ghazi B, Chavoushzadeh Z, Mahdaviani A, Mansouri M, Yousefzadegan S, Sharifi B, Zandieh F, Hedayat E, Nadjafi A, Sherkat R, Shakerian B, Sadeghi-Shabestari M, Hosseini RF, Jabbari-Azad F, Ahanchian H, Behmanesh F, Zandkarimi M, Shirkani A, Cheraghi T, Fayezi A, Mohammadzadeh I, Amin R, Aleyasin S, Moghtaderi M, Ghaffari J, Arshi S, Javahertrash N, Nabavi M, Bemanian MH, Shafiei A, Kalantari N, Ahmadiafshar A, Khazaei HA, Atarod L, Rezaei N
J Clin Immunol 2014 May;34(4):478-90. doi: 10.1007/s10875-014-0001-z. PMID: 24659230

Recent clinical studies

Etiology

Interactions of HIV and Antiretroviral Therapy With Neutrophils and Platelets.
Madzime M, Rossouw TM, Theron AJ, Anderson R, Steel HC
Front Immunol 2021;12:634386. Epub 2021 Mar 12 doi: 10.3389/fimmu.2021.634386. PMID: 33777022Free PMC Article
Role of Neutrophils in Psoriasis.
Wang WM, Jin HZ
J Immunol Res 2020;2020:3709749. Epub 2020 Jun 5 doi: 10.1155/2020/3709749. PMID: 32587871Free PMC Article
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).
Mellouli F, Mustapha IB, Khaled MB, Besbes H, Ouederni M, Mekki N, Ali MB, Larguèche B, Hachicha M, Sfar T, Gueddiche N, Barsaoui S, Sammoud A, Boussetta K, Becher SB, Meherzi A, Guandoura N, Boughammoura L, Harbi A, Amri F, Bayoudh F, Jaballah NB, Tebib N, Bouaziz A, Mahfoudh A, Aloulou H, Mansour LB, Chabchoub I, Boussoffara R, Chemli J, Bouguila J, Hassayoun S, Hammami S, Habboul Z, Hamzaoui A, Ammar J, Barbouche MR, Bejaoui M
J Clin Immunol 2015 Nov;35(8):745-53. Epub 2015 Oct 13 doi: 10.1007/s10875-015-0206-9. PMID: 26464197
How to approach neutropenia.
Boxer LA
Hematology Am Soc Hematol Educ Program 2012;2012:174-82. doi: 10.1182/asheducation-2012.1.174. PMID: 23233578
Primary immunodeficiency diseases associated with neurologic manifestations.
Dehkordy SF, Aghamohammadi A, Ochs HD, Rezaei N
J Clin Immunol 2012 Feb;32(1):1-24. Epub 2011 Oct 26 doi: 10.1007/s10875-011-9593-8. PMID: 22038677

Diagnosis

Approach to primary immunodeficiency.
Devonshire AL, Makhija M
Allergy Asthma Proc 2019 Nov 1;40(6):465-469. doi: 10.2500/aap.2019.40.4273. PMID: 31690396
Update on the classification of T-cell lymphomas, Hodgkin lymphomas, and histiocytic/dendritic cell neoplasms.
Satou A, Bennani NN, Feldman AL
Expert Rev Hematol 2019 Oct;12(10):833-843. Epub 2019 Jul 31 doi: 10.1080/17474086.2019.1647777. PMID: 31365276Free PMC Article
B Cell-Activating Factor (BAFF)-Targeted B Cell Therapies in Inflammatory Bowel Diseases.
Uzzan M, Colombel JF, Cerutti A, Treton X, Mehandru S
Dig Dis Sci 2016 Dec;61(12):3407-3424. Epub 2016 Sep 21 doi: 10.1007/s10620-016-4317-9. PMID: 27655102
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).
Mellouli F, Mustapha IB, Khaled MB, Besbes H, Ouederni M, Mekki N, Ali MB, Larguèche B, Hachicha M, Sfar T, Gueddiche N, Barsaoui S, Sammoud A, Boussetta K, Becher SB, Meherzi A, Guandoura N, Boughammoura L, Harbi A, Amri F, Bayoudh F, Jaballah NB, Tebib N, Bouaziz A, Mahfoudh A, Aloulou H, Mansour LB, Chabchoub I, Boussoffara R, Chemli J, Bouguila J, Hassayoun S, Hammami S, Habboul Z, Hamzaoui A, Ammar J, Barbouche MR, Bejaoui M
J Clin Immunol 2015 Nov;35(8):745-53. Epub 2015 Oct 13 doi: 10.1007/s10875-015-0206-9. PMID: 26464197
Primary immunodeficiency diseases associated with neurologic manifestations.
Dehkordy SF, Aghamohammadi A, Ochs HD, Rezaei N
J Clin Immunol 2012 Feb;32(1):1-24. Epub 2011 Oct 26 doi: 10.1007/s10875-011-9593-8. PMID: 22038677

Therapy

Long-term Effects of IL-6 Receptor Blockade Therapy on Regulatory Lymphocytes and Neutrophils in Neuromyelitis Optica Spectrum Disorder.
Matsuoka T, Araki M, Lin Y, Okamoto T, Gold R, Chihara N, Sato W, Kimura A, Tachimori H, Miyamoto K, Kusunoki S, Yamamura T
Neurol Neuroimmunol Neuroinflamm 2024 Jan;11(1) Epub 2023 Oct 20 doi: 10.1212/NXI.0000000000200173. PMID: 37863660Free PMC Article
Interactions of HIV and Antiretroviral Therapy With Neutrophils and Platelets.
Madzime M, Rossouw TM, Theron AJ, Anderson R, Steel HC
Front Immunol 2021;12:634386. Epub 2021 Mar 12 doi: 10.3389/fimmu.2021.634386. PMID: 33777022Free PMC Article
Modern management of phagocyte defects.
Lanini LL, Prader S, Siler U, Reichenbach J
Pediatr Allergy Immunol 2017 Mar;28(2):124-134. Epub 2016 Oct 13 doi: 10.1111/pai.12654. PMID: 27612320
B Cell-Activating Factor (BAFF)-Targeted B Cell Therapies in Inflammatory Bowel Diseases.
Uzzan M, Colombel JF, Cerutti A, Treton X, Mehandru S
Dig Dis Sci 2016 Dec;61(12):3407-3424. Epub 2016 Sep 21 doi: 10.1007/s10620-016-4317-9. PMID: 27655102
Cognitive and affective dysfunctions in autoimmune thyroiditis.
Leyhe T, Müssig K
Brain Behav Immun 2014 Oct;41:261-6. Epub 2014 Mar 29 doi: 10.1016/j.bbi.2014.03.008. PMID: 24685840

Prognosis

S100A9(-/-) alleviates LPS-induced acute lung injury by regulating M1 macrophage polarization and inhibiting pyroptosis via the TLR4/MyD88/NFκB signaling axis.
Gong C, Ma J, Deng Y, Liu Q, Zhan Z, Gan H, Xiang X, Zhang M, Cao K, Shen T, Fang L, Shen B, Shen S, Ding S
Biomed Pharmacother 2024 Mar;172:116233. Epub 2024 Feb 2 doi: 10.1016/j.biopha.2024.116233. PMID: 38308971
Circulating Interleukin-6 and CD16 positive monocytes increase following angioplasty of an arteriovenous fistula.
Hakki S, Robinson EJ, Robson MG
Sci Rep 2022 Jan 26;12(1):1427. doi: 10.1038/s41598-022-05062-9. PMID: 35082332Free PMC Article
Alterations in lymphocyte subsets and monocytes in patients diagnosed with SARS-CoV-2 pneumonia: a mini review of the literature.
Lagadinou M, Zareifopoulos N, Gkentzi D, Sampsonas F, Kostopoulou E, Marangos M, Solomou E
Eur Rev Med Pharmacol Sci 2021 Aug;25(15):5057-5062. doi: 10.26355/eurrev_202108_26463. PMID: 34355378
The Kuwait National Primary Immunodeficiency Registry 2004-2018.
Al-Herz W, Al-Ahmad M, Al-Khabaz A, Husain A, Sadek A, Othman Y
Front Immunol 2019;10:1754. Epub 2019 Jul 24 doi: 10.3389/fimmu.2019.01754. PMID: 31396239Free PMC Article
Skin manifestations of immunodeficiencies in children.
Torchia D, Connelly EA
G Ital Dermatol Venereol 2010 Apr;145(2):269-87. PMID: 20467400

Clinical prediction guides

Inhibition of CXCR1/2 reduces the emperipolesis between neutrophils and megakaryocytes in the Gata1(low) model of myelofibrosis.
Arciprete F, Verachi P, Martelli F, Valeri M, Balliu M, Guglielmelli P, Vannucchi AM, Migliaccio AR, Zingariello M
Exp Hematol 2023 May;121:30-37. Epub 2023 Mar 1 doi: 10.1016/j.exphem.2023.02.003. PMID: 36863479
Clinical and Immune Features of Hospitalized Pediatric Patients With Coronavirus Disease 2019 (COVID-19) in Wuhan, China.
Wu H, Zhu H, Yuan C, Yao C, Luo W, Shen X, Wang J, Shao J, Xiang Y
JAMA Netw Open 2020 Jun 1;3(6):e2010895. doi: 10.1001/jamanetworkopen.2020.10895. PMID: 32492165Free PMC Article
B Cell-Activating Factor (BAFF)-Targeted B Cell Therapies in Inflammatory Bowel Diseases.
Uzzan M, Colombel JF, Cerutti A, Treton X, Mehandru S
Dig Dis Sci 2016 Dec;61(12):3407-3424. Epub 2016 Sep 21 doi: 10.1007/s10620-016-4317-9. PMID: 27655102
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).
Mellouli F, Mustapha IB, Khaled MB, Besbes H, Ouederni M, Mekki N, Ali MB, Larguèche B, Hachicha M, Sfar T, Gueddiche N, Barsaoui S, Sammoud A, Boussetta K, Becher SB, Meherzi A, Guandoura N, Boughammoura L, Harbi A, Amri F, Bayoudh F, Jaballah NB, Tebib N, Bouaziz A, Mahfoudh A, Aloulou H, Mansour LB, Chabchoub I, Boussoffara R, Chemli J, Bouguila J, Hassayoun S, Hammami S, Habboul Z, Hamzaoui A, Ammar J, Barbouche MR, Bejaoui M
J Clin Immunol 2015 Nov;35(8):745-53. Epub 2015 Oct 13 doi: 10.1007/s10875-015-0206-9. PMID: 26464197
Oxidative modification of lipoproteins: mechanisms, role in inflammation and potential clinical applications in cardiovascular disease.
Tsimikas S, Miller YI
Curr Pharm Des 2011;17(1):27-37. doi: 10.2174/138161211795049831. PMID: 21226665

Recent systematic reviews

"Oral Manifestations of Patients with Inherited Defect in Phagocyte Number or Function" a systematic review.
Ziaei H, Tonkaboni A, Shamshiri A, Rezaei N
Clin Immunol 2021 Aug;229:108796. Epub 2021 Jul 14 doi: 10.1016/j.clim.2021.108796. PMID: 34271191
Systematic Review of Primary Immunodeficiency Diseases in Malaysia: 1979-2020.
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

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