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Phagocyte bactericidal dysfunction

MedGen UID:: 14713
•Concept ID:: C0031306
•: Disease or Syndrome

Synonyms:	Bactericidal Dysfunction, Phagocyte; Bactericidal Dysfunctions, Phagocyte; Dysfunction, Phagocyte Bactericidal; Dysfunctions, Phagocyte Bactericidal; Phagocyte Bactericidal Dysfunction; Phagocyte Bactericidal Dysfunctions

Monarch Initiative:	MONDO:0005910

Definition

Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPhagocyte bactericidal dysfunction

Phenotypic abnormality
- Abnormality of the immune system
  - Abnormality of immune system physiology
    - Immunodeficiency
      - Phagocyte bactericidal dysfunction
        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
        Hyper-IgE syndrome
        Autosomal recessive hyper-IgE syndrome
        CADINS disease
        Hyper-IgE recurrent infection syndrome 1, autosomal dominant
        Immunodeficiency 23
        Netherton syndrome
        Severe dermatitis-multiple allergies-metabolic wasting syndrome
        STAT3 Deficiency

Professional guidelines

PubMed

Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD.

Leiding JW, Arnold DE, Parikh S, Logan B, Marsh RA, Griffith LM, Wu R, Kidd S, Mallhi K, Chellapandian D, Si Lim SJ, Grunebaum E, Falcone EL, Murguia-Favela L, Grossman D, Prasad VK, Heimall JR, Touzot F, Burroughs LM, Bleesing J, Kapoor N, Dara J, Williams O, Kapadia M, Oshrine BR, Bednarski JJ, Rayes A, Chong H, Cuvelier GDE, Forbes Satter LR, Martinez C, Vander Lugt MT, Yu LC, Chandrakasan S, Joshi A, Prockop SE, Dávila Saldaña BJ, Aquino V, Broglie LA, Ebens CL, Madden LM, DeSantes K, Milner J, Rangarajan HG, Shah AJ, Gillio AP, Knutsen AP, Miller HK, Moore TB, Graham P, Bauchat A, Bunin NJ, Teira P, Petrovic A, Chandra S, Abdel-Azim H, Dorsey MJ, Birbrayer O, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Malech HL, Kang EM
Blood 2023 Dec 14;142(24):2105-2118. doi: 10.1182/blood.2022019586. PMID: 37562003 Free PMC Article

Ophthalmic manifestations and management of common and rare autoimmune syndromes.

Seol Y, Lee R, Bielory BP
Curr Opin Allergy Clin Immunol 2020 Oct;20(5):493-500. doi: 10.1097/ACI.0000000000000674. PMID: 32769709

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

See all (127)

Recent clinical studies

Etiology

Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.

Dezfouli M, Bergström S, Skattum L, Abolhassani H, Neiman M, Torabi-Rahvar M, Franco Jarava C, Martin-Nalda A, Ferrer Balaguer JM, Slade CA, Roos A, Fernandez Pereira LM, López-Trascasa M, Gonzalez-Granado LI, Allende-Martinez LM, Mizuno Y, Yoshida Y, Friman V, Lundgren Å, Aghamohammadi A, Rezaei N, Hernández-Gonzalez M, von Döbeln U, Truedsson L, Hara T, Nonoyama S, Schwenk JM, Nilsson P, Hammarström L
Front Immunol 2020;11:455. Epub 2020 Mar 17 doi: 10.3389/fimmu.2020.00455. PMID: 32256498 Free PMC Article

Distribution and clinical features of primary immunodeficiency diseases in Chinese children (2004-2009).

Wang LL, Jin YY, Hao YQ, Wang JJ, Yao CM, Wang X, Cao RM, Zhang H, Chen Y, Chen TX
J Clin Immunol 2011 Jun;31(3):297-308. Epub 2011 Jan 18 doi: 10.1007/s10875-010-9493-3. PMID: 21243521

Oral manifestations of primary immune deficiencies in children.

Szczawinska-Poplonyk A, Gerreth K, Breborowicz A, Borysewicz-Lewicka M
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009 Sep;108(3):e9-20. Epub 2009 Jul 12 doi: 10.1016/j.tripleo.2009.03.049. PMID: 19596208

Mechanisms of bacterial superinfections in viral pneumonias.

Jakab GJ
Schweiz Med Wochenschr 1985 Jan 19;115(3):75-86. PMID: 3883482

The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature.

Donabedian H, Gallin JI
Medicine (Baltimore) 1983 Jul;62(4):195-208. doi: 10.1097/00005792-198307000-00001. PMID: 6348470

See all (35)

Diagnosis

Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.

Malacoplakia of the skin: overview of a rare clinical entity.

Kyriakou G, Gialeli E, Vryzaki E, Koumoundourou D, Glentis A, Georgiou S
Dermatol Online J 2019 Jun 15;25(6) PMID: 31329385

Oral manifestations of primary immune deficiencies in children.

Phagocyte defects.

White CJ, Gallin JI
Clin Immunol Immunopathol 1986 Jul;40(1):50-61. doi: 10.1016/0090-1229(86)90068-1. PMID: 2941193

Testing neutrophil function.

Lancet 1976 Dec 25;2(8000):1391-2. PMID: 63855

See all (105)

Therapy

Malacoplakia of the skin: overview of a rare clinical entity.

Kyriakou G, Gialeli E, Vryzaki E, Koumoundourou D, Glentis A, Georgiou S
Dermatol Online J 2019 Jun 15;25(6) PMID: 31329385

Adhesion-promoting receptors on phagocytes.

Wright SD, Detmers PA
J Cell Sci Suppl 1988;9:99-120. doi: 10.1242/jcs.1988.supplement_9.5. PMID: 2978519

Phagocytic cell dysfunction.

Quie PG
J Allergy Clin Immunol 1986 Mar;77(3):387-98. doi: 10.1016/0091-6749(86)90169-7. PMID: 3512661

The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature.

Donabedian H, Gallin JI
Medicine (Baltimore) 1983 Jul;62(4):195-208. doi: 10.1097/00005792-198307000-00001. PMID: 6348470

Chronic granulomatous disease.

Johnston RB, Newman SL
Pediatr Clin North Am 1977 May;24(2):365-76. doi: 10.1016/s0031-3955(16)33424-1. PMID: 323805

See all (66)

Prognosis

Malacoplakia of the skin: overview of a rare clinical entity.

Kyriakou G, Gialeli E, Vryzaki E, Koumoundourou D, Glentis A, Georgiou S
Dermatol Online J 2019 Jun 15;25(6) PMID: 31329385

Distribution and clinical features of primary immunodeficiency diseases in Chinese children (2004-2009).

Wang LL, Jin YY, Hao YQ, Wang JJ, Yao CM, Wang X, Cao RM, Zhang H, Chen Y, Chen TX
J Clin Immunol 2011 Jun;31(3):297-308. Epub 2011 Jan 18 doi: 10.1007/s10875-010-9493-3. PMID: 21243521

The CD11/CD18 leukocyte glycoprotein deficiency.

Todd RF 3rd, Freyer DR
Hematol Oncol Clin North Am 1988 Mar;2(1):13-31. PMID: 3279017

Phagocyte defects.

White CJ, Gallin JI
Clin Immunol Immunopathol 1986 Jul;40(1):50-61. doi: 10.1016/0090-1229(86)90068-1. PMID: 2941193

The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature.

Donabedian H, Gallin JI
Medicine (Baltimore) 1983 Jul;62(4):195-208. doi: 10.1097/00005792-198307000-00001. PMID: 6348470

See all (17)

Clinical prediction guides

The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years' activity from 2008 to 2014.

Marschall K, Hoernes M, Bitzenhofer-Grüber M, Jandus P, Duppenthaler A, Wuillemin WA, Rischewski J, Boyman O, Heininger U, Hauser T, Steiner U, Posfay-Barbe K, Seebach J, Recher M, Hess C, Helbling A, Reichenbach J; Swiss PID Registry Working Group
Clin Exp Immunol 2015 Oct;182(1):45-50. Epub 2015 Jul 29 doi: 10.1111/cei.12661. PMID: 26031847 Free PMC Article

Oral manifestations of primary immune deficiencies in children.

Application of a fluorochrome-lysostaphin assay to the detection of phagocytic and bactericidal disturbances in human neutrophils and monocytes.

Bellinati-Pires R, Salgado MM, Hypolito IP, Grumach AS, Carneiro-Sampaio MM
J Investig Allergol Clin Immunol 1995 Nov-Dec;5(6):337-42. PMID: 8653222

Adhesion-promoting receptors on phagocytes.

Wright SD, Detmers PA
J Cell Sci Suppl 1988;9:99-120. doi: 10.1242/jcs.1988.supplement_9.5. PMID: 2978519

Degradation of thyroid hormones by phagocytosing human leukocytes.

Klebanoff SJ, Green WL
J Clin Invest 1973 Jan;52(1):60-72. doi: 10.1172/JCI107174. PMID: 4629909 Free PMC Article

See all (26)