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Recurrent Aspergillus infections

MedGen UID:
867387
Concept ID:
C4021752
Finding
Synonym: Aspergillus infections, recurrent
 
HPO: HP:0002724

Definition

An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRecurrent Aspergillus infections

Conditions with this feature

Granulomatous disease, chronic, X-linked
MedGen UID:
336165
Concept ID:
C1844376
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
MedGen UID:
383869
Concept ID:
C1856245
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
MedGen UID:
341102
Concept ID:
C1856251
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
MedGen UID:
383872
Concept ID:
C1856255
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.

Professional guidelines

PubMed

Agarwal R, Sehgal IS, Muthu V, Denning DW, Chakrabarti A, Soundappan K, Garg M, Rudramurthy SM, Dhooria S, Armstrong-James D, Asano K, Gangneux JP, Chotirmall SH, Salzer HJF, Chalmers JD, Godet C, Joest M, Page I, Nair P, Arjun P, Dhar R, Jat KR, Joe G, Krishnaswamy UM, Mathew JL, Maturu VN, Mohan A, Nath A, Patel D, Savio J, Saxena P, Soman R, Thangakunam B, Baxter CG, Bongomin F, Calhoun WJ, Cornely OA, Douglass JA, Kosmidis C, Meis JF, Moss R, Pasqualotto AC, Seidel D, Sprute R, Prasad KT, Aggarwal AN
Eur Respir J 2024 Apr;63(4) Epub 2024 Apr 4 doi: 10.1183/13993003.00061-2024. PMID: 38423624Free PMC Article
Sharma N, Bagga B, Singhal D, Nagpal R, Kate A, Saluja G, Maharana PK
Ocul Surf 2022 Apr;24:22-30. Epub 2021 Dec 13 doi: 10.1016/j.jtos.2021.12.001. PMID: 34915188
Agarwal R, Chakrabarti A, Shah A, Gupta D, Meis JF, Guleria R, Moss R, Denning DW; ABPA complicating asthma ISHAM working group
Clin Exp Allergy 2013 Aug;43(8):850-73. doi: 10.1111/cea.12141. PMID: 23889240

Recent clinical studies

Etiology

Salerno CT, Ouyang DW, Pederson TS, Larson DM, Shake JP, Johnson EM, Maddaus MA
Ann Thorac Surg 1998 May;65(5):1415-9. doi: 10.1016/s0003-4975(98)00097-6. PMID: 9594877

Diagnosis

Wilk MA, Braun AT, Farrell PM, Laxova A, Brown DM, Holt JM, Birch CL, Sosonkina N, Wilk BM, Worthey EA
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004531. PMID: 32014855Free PMC Article
Salerno CT, Ouyang DW, Pederson TS, Larson DM, Shake JP, Johnson EM, Maddaus MA
Ann Thorac Surg 1998 May;65(5):1415-9. doi: 10.1016/s0003-4975(98)00097-6. PMID: 9594877

Therapy

Wilk MA, Braun AT, Farrell PM, Laxova A, Brown DM, Holt JM, Birch CL, Sosonkina N, Wilk BM, Worthey EA
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004531. PMID: 32014855Free PMC Article
Salerno CT, Ouyang DW, Pederson TS, Larson DM, Shake JP, Johnson EM, Maddaus MA
Ann Thorac Surg 1998 May;65(5):1415-9. doi: 10.1016/s0003-4975(98)00097-6. PMID: 9594877

Prognosis

Wilk MA, Braun AT, Farrell PM, Laxova A, Brown DM, Holt JM, Birch CL, Sosonkina N, Wilk BM, Worthey EA
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004531. PMID: 32014855Free PMC Article
Salerno CT, Ouyang DW, Pederson TS, Larson DM, Shake JP, Johnson EM, Maddaus MA
Ann Thorac Surg 1998 May;65(5):1415-9. doi: 10.1016/s0003-4975(98)00097-6. PMID: 9594877

Clinical prediction guides

Wilk MA, Braun AT, Farrell PM, Laxova A, Brown DM, Holt JM, Birch CL, Sosonkina N, Wilk BM, Worthey EA
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004531. PMID: 32014855Free PMC Article
Salerno CT, Ouyang DW, Pederson TS, Larson DM, Shake JP, Johnson EM, Maddaus MA
Ann Thorac Surg 1998 May;65(5):1415-9. doi: 10.1016/s0003-4975(98)00097-6. PMID: 9594877

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