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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
        CADINS disease
        DOCK8 Deficiency
        Hyper-IgE recurrent infection syndrome 1, autosomal dominant
        Immunodeficiency 23
        Netherton syndrome
        Severe dermatitis-multiple allergies-metabolic wasting syndrome
        STAT3 Deficiency

Professional guidelines

PubMed

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

Atopic dermatitis in children: clinical features, pathophysiology, and treatment.

Lyons JJ, Milner JD, Stone KD
Immunol Allergy Clin North Am 2015 Feb;35(1):161-83. Epub 2014 Nov 21 doi: 10.1016/j.iac.2014.09.008. PMID: 25459583 Free PMC Article

Advances in the diagnosis and treatment of chronic granulomatous disease.

Seger RA
Curr Opin Hematol 2011 Jan;18(1):36-41. doi: 10.1097/MOH.0b013e32834115e7. PMID: 21076296

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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

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

Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi Syndrome leukocytes.

Root RK, Rosenthal AS, Balestra DJ
J Clin Invest 1972 Mar;51(3):649-65. doi: 10.1172/JCI106854. PMID: 4400956 Free PMC Article

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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

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

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

Testing neutrophil function.

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

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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

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 phagocytic cell and its disorders.

Roberts R, Gallin JI
Ann Allergy 1983 Sep;51(3):330-43. PMID: 6311059

Myeloperoxidase activity and bactericidal function of PMN in iron deficiency.

Yetgin S, Altay C, Ciliv G, Laleli Y
Acta Haematol 1979;61(1):10-4. doi: 10.1159/000207620. PMID: 217216

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

Granulocyte function disorders: aspects of development, genetics and management.

Yang KD, Hill HR
Pediatr Infect Dis J 2001 Sep;20(9):889-900. doi: 10.1097/00006454-200109000-00014. PMID: 11734771

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

Immune status is more affected by age than by carotenoid depletion-repletion in healthy human subjects.

Farges MC, Minet-Quinard R, Walrand S, Thivat E, Ribalta J, Winklhofer-Roob B, Rock E, Vasson MP
Br J Nutr 2012 Dec 14;108(11):2054-65. Epub 2012 Mar 8 doi: 10.1017/S0007114512000177. PMID: 22397808

Oral manifestations of primary immune deficiencies in children.

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

Elevated urinary histamine in the hyperimmunoglobulin E and recurrent infection (Job's) syndrome: association with eczematoid dermatitis and not with infection.

Dreskin SC, Kaliner MA, Gallin JI
J Allergy Clin Immunol 1987 Mar;79(3):515-22. doi: 10.1016/0091-6749(87)90370-8. PMID: 3819231

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)