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Disseminated nontuberculous mycobacterial infection

MedGen UID:
1687715
Concept ID:
C5139240
Disease or Syndrome
HPO: HP:0032283

Definition

An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisseminated nontuberculous mycobacterial infection

Conditions with this feature

Immunodeficiency 33
MedGen UID:
370376
Concept ID:
C1970879
Disease or Syndrome
Immunodeficiency-33 (IMD33) is an X-linked recessive disorder that affects only males. It is characterized by early-onset severe infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria, although other organisms have also been detected. Immunologic investigations may show variable abnormalities or may be normal. Disturbances include dysgammaglobulinemia with hypogammaglobulinemia, decreased IgG2, aberrant levels of IgM and IgA, and decreased class-switched memory B cells. There is often poor, but variable, response to vaccination; in particular, most patients do not develop antibodies to certain polysaccharide vaccines, notably pneumococcus. Other immunologic abnormalities may include impaired NK cytotoxic function, impaired cytokine production upon stimulation with IL1B (147720) or TNFA (191160), low IL6 (147620), low IL12 (see 161561), and decreased IFNG (147570). Patients do not have overt abnormalities of T-cell proliferation, although signaling pathways, such as CD40LG (300386)/CD40 (109535), may be disturbed. There is heterogeneity in the immunologic phenotype, resulting in highly variable clinical courses, most likely due to the different effects of hypomorphic mutations. Treatment with antibiotics and IVIg is usually beneficial; hematopoietic stem cell transplantation may not be necessary, but can be effective. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia (summary by Orange et al., 2004, Filipe-Santos et al., 2006, Salt et al., 2008, Heller et al., 2020).

Professional guidelines

PubMed

Chetchotisakd P, Anunnatsiri S
Southeast Asian J Trop Med Public Health 2014 Sep;45(5):1125-31. PMID: 25417515

Recent clinical studies

Etiology

Yuan CT, Huang WT, Hsu CL, Wang H, Pan YH, Wu UI, Wang JT, Sheng WH, Chen YC, Chang SC
J Clin Immunol 2023 Dec 28;44(1):35. doi: 10.1007/s10875-023-01643-z. PMID: 38153613
Park H, Kang YA, Park Y
Yonsei Med J 2023 Oct;64(10):612-617. doi: 10.3349/ymj.2023.0046. PMID: 37727920Free PMC Article
Sun X, Zhang T, Sun H, Sun X
BMC Pulm Med 2022 Nov 29;22(1):452. doi: 10.1186/s12890-022-02227-0. PMID: 36447235Free PMC Article
Choi J, Nikoomanesh K, Uppal J, Wang S
BMC Pulm Med 2019 Feb 21;19(1):46. doi: 10.1186/s12890-019-0808-8. PMID: 30791902Free PMC Article
Chetchotisakd P, Kiertiburanakul S, Mootsikapun P, Assanasen S, Chaiwarith R, Anunnatsiri S
Clin Infect Dis 2007 Aug 15;45(4):421-7. Epub 2007 Jul 5 doi: 10.1086/520030. PMID: 17638188

Diagnosis

Baldovino Chiquillo L, Rico DL, Leal DD, Romero M
BMJ Case Rep 2023 Sep 21;16(9) doi: 10.1136/bcr-2023-255226. PMID: 37734862Free PMC Article
Park H, Kang YA, Park Y
Yonsei Med J 2023 Oct;64(10):612-617. doi: 10.3349/ymj.2023.0046. PMID: 37727920Free PMC Article
Sun X, Zhang T, Sun H, Sun X
BMC Pulm Med 2022 Nov 29;22(1):452. doi: 10.1186/s12890-022-02227-0. PMID: 36447235Free PMC Article
Fujita Y, Matsumoto H, Asano T, Sato S, Yashiro-Furuya M, Matsuoka N, Temmoku J, Nakatani-Enomoto S, Kimura S, Hoshi K, Uematsu M, Watanabe H, Migita K
Tohoku J Exp Med 2021 Feb;253(2):151-157. doi: 10.1620/tjem.253.151. PMID: 33658450
Tanimizu M, Mizuno K, Hashimoto M
Acta Med Okayama 2017 Dec;71(6):547-552. doi: 10.18926/AMO/55594. PMID: 29276230

Therapy

Park H, Kang YA, Park Y
Yonsei Med J 2023 Oct;64(10):612-617. doi: 10.3349/ymj.2023.0046. PMID: 37727920Free PMC Article
Sun X, Zhang T, Sun H, Sun X
BMC Pulm Med 2022 Nov 29;22(1):452. doi: 10.1186/s12890-022-02227-0. PMID: 36447235Free PMC Article
Haraguchi M, Harada N, Watanabe J, Yoshikawa H, Shirai Y, Komura M, Koyama M, Ito J, Tsukune Y, Horimoto Y, Hayashi T, Nagaoka T, Uekusa T, Takahashi K
BMC Infect Dis 2021 May 29;21(1):502. doi: 10.1186/s12879-021-06203-7. PMID: 34051752Free PMC Article
Choi J, Nikoomanesh K, Uppal J, Wang S
BMC Pulm Med 2019 Feb 21;19(1):46. doi: 10.1186/s12890-019-0808-8. PMID: 30791902Free PMC Article
Chetchotisakd P, Anunnatsiri S
Southeast Asian J Trop Med Public Health 2014 Sep;45(5):1125-31. PMID: 25417515

Prognosis

Park H, Kang YA, Park Y
Yonsei Med J 2023 Oct;64(10):612-617. doi: 10.3349/ymj.2023.0046. PMID: 37727920Free PMC Article
Goto R, Shiota S, Kaimori R, Horinouchi N, Utsunomiya Nishimizu R, Yamamoto K, Miyazaki E
BMC Infect Dis 2023 Jan 30;23(1):58. doi: 10.1186/s12879-023-08020-6. PMID: 36717786Free PMC Article
Haraguchi M, Harada N, Watanabe J, Yoshikawa H, Shirai Y, Komura M, Koyama M, Ito J, Tsukune Y, Horimoto Y, Hayashi T, Nagaoka T, Uekusa T, Takahashi K
BMC Infect Dis 2021 May 29;21(1):502. doi: 10.1186/s12879-021-06203-7. PMID: 34051752Free PMC Article
Chetchotisakd P, Anunnatsiri S
Southeast Asian J Trop Med Public Health 2014 Sep;45(5):1125-31. PMID: 25417515
Rosenzweig SD, Holland SM
J Allergy Clin Immunol 2004 Apr;113(4):620-6. doi: 10.1016/j.jaci.2004.02.001. PMID: 15100664

Clinical prediction guides

Park H, Kang YA, Park Y
Yonsei Med J 2023 Oct;64(10):612-617. doi: 10.3349/ymj.2023.0046. PMID: 37727920Free PMC Article
Hidekawa C, Yoshimi R, Kishimoto D, Kato H, Mitsuhashi M, Sakurai N, Sato Y, Uehara T, Iizuka Y, Komiya T, Hamada N, Nagai H, Soejima Y, Kamiyama R, Takase-Minegishi K, Kirino Y, Sakagami T, Nakajima H
Intern Med 2022 Aug 1;61(15):2377-2385. Epub 2022 Jan 13 doi: 10.2169/internalmedicine.8366-21. PMID: 35022342Free PMC Article
Tanimizu M, Mizuno K, Hashimoto M
Acta Med Okayama 2017 Dec;71(6):547-552. doi: 10.18926/AMO/55594. PMID: 29276230
Montague NS, Garola RE, González I, Bastos MD, Rodriguez MM
Pediatr Dev Pathol 2013 Sep-Oct;16(5):372-7. Epub 2013 May 20 doi: 10.2350/12-11-1269-CR.1. PMID: 23688346
Dautzenberg B, Olliaro P, Ruf B, Esposito R, Opravil M, Hoy JF, Rozenbaum W, Carosi GP, Micoud M, L'Age M, Pirotta N, Sassella D
Clin Infect Dis 1996 Apr;22(4):705-8. doi: 10.1093/clinids/22.4.705. PMID: 8729209

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