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Recurrent opportunistic infections

MedGen UID:
330439
Concept ID:
C1832324
Finding
Synonym: Frequent opportunistic infections
 
HPO: HP:0005390

Definition

Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. [from HPO]

Term Hierarchy

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

Conditions with this feature

Purine-nucleoside phosphorylase deficiency
MedGen UID:
75653
Concept ID:
C0268125
Disease or Syndrome
Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
MedGen UID:
321935
Concept ID:
C1832322
Disease or Syndrome
Severe combined immunodeficiency refers to a genetically and clinically heterogeneous group of disorders with defective cellular and humoral immune function. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. Laboratory analysis shows profound lymphopenia with diminished or absent immunoglobulins. The common characteristic of all types of SCID is absence of T cell-mediated cellular immunity due to a defect in T-cell development. Without treatment, patients usually die within the first year of life. The overall prevalence of all types of SCID is approximately 1 in 75,000 births (Fischer et al., 1997; Buckley, 2004). Genetic Heterogeneity of SCID SCID can be divided into 2 main classes: those with B lymphocytes (B+ SCID) and those without (B- SCID). Presence or absence of NK cells is variable within these groups. The most common form of SCID is X-linked T-, B+, NK- SCID (SCIDX1; 300400) caused by mutation in the IL2RG gene (308380) on chromosome Xq13.1. Autosomal recessive SCID includes T-, B-, NK+ SCID, caused by mutation in the RAG1 and RAG2 genes on 11p13; T-, B+, NK- SCID (600802), caused by mutation in the JAK3 gene (600173) on 19p13; T-, B+, NK+ SCID (IMD104; 608971), caused by mutation in the IL7R gene (146661) on 5p13; T-, B+, NK+ SCID (IMD105; 619924), caused by mutation in the CD45 gene (PTPRC; 151460) on 1q31-q32; T-, B+, NK+ SCID (IMD19; 615617), caused by mutation in the CD3D gene (186790) on 11q23; T-, B-, NK- SCID (102700) caused by mutation in the ADA (608958) gene on 20q13; and T-, B-, NK+ SCID with sensitivity to ionizing radiation (602450), caused by mutation in the Artemis gene (DCLRE1C; 605988) on 10p13 (Kalman et al., 2004); and T-, B-, NK+ SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation (611291), caused by mutation in the NHEJ1 gene (611290) on 2q35. Approximately 20 to 30% of all SCID patients are T-, B-, NK+, and approximately half of these patients have mutations in the RAG1 or RAG2 genes (Schwarz et al., 1996; Fischer et al., 1997).
Dyskeratosis congenita, autosomal recessive 2
MedGen UID:
462791
Concept ID:
C3151441
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Immunodeficiency 104
MedGen UID:
1801019
Concept ID:
C5676890
Disease or Syndrome
Immunodeficiency-104 (IMD104) is an autosomal recessive disorder characterized by the onset of recurrent infections in early infancy. Manifestations may include oral thrush, fever, and failure to thrive. Some patients have lymphadenopathy and hepatosplenomegaly, whereas others have absence of lymph nodes and lack a thymic shadow. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, variable hypogammaglobulinemia, and normal NK cells. The disorder is caused by a defect in IL7 (146660) signaling due to a mutant IL7 receptor. Hematopoietic stem cell transplantation may be curative (Roifman et al., 2000 and Giliani et al., 2005). Giliani et al. (2005) provided a detailed review of IL7R deficiency, including discussion of the IL7R gene and its function in the immune system, clinical features of the disorder, and experiences with hematopoietic stem cell transplant as treatment. For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457.

Professional guidelines

PubMed

Wierda WG, Byrd JC, Abramson JS, Bhat S, Bociek G, Brander D, Brown J, Chanan-Khan A, Coutre SE, Davis RS, Fletcher CD, Hill B, Kahl BS, Kamdar M, Kaplan LD, Khan N, Kipps TJ, Lancet J, Ma S, Malek S, Mosse C, Shadman M, Siddiqi T, Stephens D, Wagner N, Zelenetz AD, Dwyer MA, Sundar H
J Natl Compr Canc Netw 2017 Nov;15(11):1414-1427. doi: 10.6004/jnccn.2017.0165. PMID: 29118233
Benson CA
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Recent clinical studies

Etiology

Brugière O, Vallée A, Raimbourg Q, Peraldi MN, de Verdière SC, Beaumont L, Hamid A, Zrounba M, Roux A, Picard C, Parquin F, Glorion M, Oniszczuk J, Hertig A, Mal H, Bunel V
PLoS One 2023;18(3):e0281492. Epub 2023 Mar 15 doi: 10.1371/journal.pone.0281492. PMID: 36920935Free PMC Article
Ni J, Zhang J, Chen Y, Wang W, Liu J
BMC Immunol 2021 Aug 3;22(1):50. doi: 10.1186/s12865-021-00441-9. PMID: 34344301Free PMC Article
Lenz D, Hambsch J, Schneider P, Häusler HJ, Sauer U, Hess J, Tárnok A
Crit Care 2003 Apr;7(2):185-90. Epub 2003 Mar 3 doi: 10.1186/cc2166. PMID: 12720566Free PMC Article
Nielsen K
GMHC Treat Issues 1997 Jul-Aug;11(7-8):36-8. PMID: 11364655
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Diagnosis

Thomas K, Tsioulos G, Kotsogianni C, Banos A, Niemela JE, Cheng A, DiMaggio T, Holland S, Rosenzweig SD, Tziolos N, Papadopoulos A, Lionakis MS, Boumpas DT
RMD Open 2023 Jun;9(2) doi: 10.1136/rmdopen-2023-003149. PMID: 37364928Free PMC Article
Zengin Acemoğlu ŞŞ, Türk İ, Özsoy S, Köker MY, Sat B
Int J Rheum Dis 2023 Apr;26(4):764-768. Epub 2022 Dec 1 doi: 10.1111/1756-185X.14507. PMID: 36455104
Wierda WG, Byrd JC, Abramson JS, Bhat S, Bociek G, Brander D, Brown J, Chanan-Khan A, Coutre SE, Davis RS, Fletcher CD, Hill B, Kahl BS, Kamdar M, Kaplan LD, Khan N, Kipps TJ, Lancet J, Ma S, Malek S, Mosse C, Shadman M, Siddiqi T, Stephens D, Wagner N, Zelenetz AD, Dwyer MA, Sundar H
J Natl Compr Canc Netw 2017 Nov;15(11):1414-1427. doi: 10.6004/jnccn.2017.0165. PMID: 29118233
Ochi S, Kato S, Nakamura-Uchiyama F, Ohnishi K, Saito Y
Mod Rheumatol 2017 May;27(3):533-535. Epub 2015 Feb 11 doi: 10.3109/14397595.2014.997822. PMID: 25529030
Cannon T, Mobarek D, Wegge J, Tabbara IA
Cancer Invest 2008 Oct;26(8):860-5. doi: 10.1080/07357900801965034. PMID: 18798068

Therapy

Brugière O, Vallée A, Raimbourg Q, Peraldi MN, de Verdière SC, Beaumont L, Hamid A, Zrounba M, Roux A, Picard C, Parquin F, Glorion M, Oniszczuk J, Hertig A, Mal H, Bunel V
PLoS One 2023;18(3):e0281492. Epub 2023 Mar 15 doi: 10.1371/journal.pone.0281492. PMID: 36920935Free PMC Article
Xu R, Zhang JY, Tu B, Xu Z, Huang HH, Huang L, Jiao YM, Yang T, Zhang C, Qin EQ, Jiang TJ, Xie YB, Li YY, Jin L, Zhou CB, Shi M, Guo M, Ai HS, Zhang L, Wang FS
Signal Transduct Target Ther 2021 May 7;6(1):174. doi: 10.1038/s41392-021-00550-2. PMID: 33958574Free PMC Article
Wierda WG, Byrd JC, Abramson JS, Bhat S, Bociek G, Brander D, Brown J, Chanan-Khan A, Coutre SE, Davis RS, Fletcher CD, Hill B, Kahl BS, Kamdar M, Kaplan LD, Khan N, Kipps TJ, Lancet J, Ma S, Malek S, Mosse C, Shadman M, Siddiqi T, Stephens D, Wagner N, Zelenetz AD, Dwyer MA, Sundar H
J Natl Compr Canc Netw 2017 Nov;15(11):1414-1427. doi: 10.6004/jnccn.2017.0165. PMID: 29118233
Cannon T, Mobarek D, Wegge J, Tabbara IA
Cancer Invest 2008 Oct;26(8):860-5. doi: 10.1080/07357900801965034. PMID: 18798068
Jaworowski A, Maslin CL, Wesselingh SL
Sex Health 2004;1(3):161-74. doi: 10.1071/sh03022. PMID: 16335304

Prognosis

Ni J, Zhang J, Chen Y, Wang W, Liu J
BMC Immunol 2021 Aug 3;22(1):50. doi: 10.1186/s12865-021-00441-9. PMID: 34344301Free PMC Article
Wierda WG, Byrd JC, Abramson JS, Bhat S, Bociek G, Brander D, Brown J, Chanan-Khan A, Coutre SE, Davis RS, Fletcher CD, Hill B, Kahl BS, Kamdar M, Kaplan LD, Khan N, Kipps TJ, Lancet J, Ma S, Malek S, Mosse C, Shadman M, Siddiqi T, Stephens D, Wagner N, Zelenetz AD, Dwyer MA, Sundar H
J Natl Compr Canc Netw 2017 Nov;15(11):1414-1427. doi: 10.6004/jnccn.2017.0165. PMID: 29118233
Ochi S, Kato S, Nakamura-Uchiyama F, Ohnishi K, Saito Y
Mod Rheumatol 2017 May;27(3):533-535. Epub 2015 Feb 11 doi: 10.3109/14397595.2014.997822. PMID: 25529030
Cannon T, Mobarek D, Wegge J, Tabbara IA
Cancer Invest 2008 Oct;26(8):860-5. doi: 10.1080/07357900801965034. PMID: 18798068
Salomon J, De TP, Melchior JC
Br J Nutr 2002 Jan;87 Suppl 1:S111-9. doi: 10.1079/bjn2001464. PMID: 11895147

Clinical prediction guides

Zhou J, Qian M, Jiang N, Wu J, Feng X, Yu M, Min Q, Xu H, Yang Y, Yang Q, Zhou F, Shao L, Zhu H, Yang Y, Wang JY, Ruan Q, Zhang W
J Clin Immunol 2024 May 22;44(6):131. doi: 10.1007/s10875-024-01735-4. PMID: 38775840
Kokoris SI, Siakantaris MP, Kontopidou FN, Kyrtsonis MC, Tsakris A, Spanakis N, Anargyrou K, Vassilakopoulos TP, Viniou NA, Korkolopoulou P, Dimitrakopoulou AD, Legakis N, Pangalis GA
Leuk Lymphoma 2004 Apr;45(4):715-21. doi: 10.1080/1042819032000140960. PMID: 15160945
Lenz D, Hambsch J, Schneider P, Häusler HJ, Sauer U, Hess J, Tárnok A
Crit Care 2003 Apr;7(2):185-90. Epub 2003 Mar 3 doi: 10.1186/cc2166. PMID: 12720566Free PMC Article

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