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Recurrent sinopulmonary infections

MedGen UID:
339549
Concept ID:
C1846546
Finding
Synonyms: Chronic sinopulmonary infection; Sinopulmonary infections, recurrent
 
HPO: HP:0005425

Definition

An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. [from HPO]

Term Hierarchy

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

Conditions with this feature

Young syndrome
MedGen UID:
137934
Concept ID:
C0340037
Disease or Syndrome
Young syndrome is characterized by chronic sinopulmonary infections, persistent azoospermia, and normal spermatogenesis (Handelsman et al., 1984).
Immunoglobulin A deficiency 2
MedGen UID:
372182
Concept ID:
C1836032
Disease or Syndrome
Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.
Autoimmune lymphoproliferative syndrome type 2B
MedGen UID:
339548
Concept ID:
C1846545
Disease or Syndrome
Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections (summary by Madkaikar et al., 2011).
Ciliary dyskinesia with transposition of ciliary microtubules
MedGen UID:
388736
Concept ID:
C2673817
Disease or Syndrome
Familial cold autoinflammatory syndrome 3
MedGen UID:
482544
Concept ID:
C3280914
Disease or Syndrome
Familial cold autoinflammatory syndrome-3 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012). For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
MedGen UID:
766875
Concept ID:
C3553961
Disease or Syndrome
Autoinflammation, antibody deficiency, and immune dysregulation (APLAID) is an autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies (summary by Zhou et al., 2012).
Immunodeficiency 14
MedGen UID:
811535
Concept ID:
C3714976
Disease or Syndrome
Activated PI3K-delta syndrome (also known as APDS) is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. The severity of activated PI3K-delta syndrome varies widely. Some people may have multiple, severe infections while others show mild symptoms to none at all.\n\nThere are two types of activated PI3K-delta syndrome, each with different genetic causes.\n\nMost commonly, people with activated PI3K-delta syndrome develop recurrent infections that begin in childhood, particularly in the lungs, sinuses, and ears. Over time, recurrent respiratory tract infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. People with activated PI3K-delta syndrome may also have chronic active viral infections, such as Epstein-Barr virus, herpes simplex virus, or cytomegalovirus infections.\n\nAnother possible feature of activated PI3K-delta syndrome is abnormal clumping of white blood cells. These clumps can lead to enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly). The white blood cells can also build up to form solid masses (nodular lymphoid hyperplasia), usually in the moist lining of the airways or intestines. While nodular lymphoid hyperplasia is not cancerous (benign), activated PI3K-delta syndrome increases the risk of developing forms of blood cancer called Hodgkin lymphoma and non-Hodgkin lymphoma.\n\nSome people with activated PI3K-delta syndrome develop autoimmunity, which occurs when the body attacks its own tissues and organs by mistake.
Immunodeficiency, common variable, 12
MedGen UID:
906018
Concept ID:
C4225277
Disease or Syndrome
Common variable immunodeficiency-12 with autoimmunity (CVID12) is an autosomal dominant complex immunologic disorder with multisystem involvement. CVID12 is mainly a primary immunodeficiency characterized by recurrent infections and associated with hypogammaglobulinemia. Notably, about half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. A smaller percentage of affected individuals (less than 20%) develop cancer, most commonly solid tumors, including lymphoma. Age at onset and disease severity are highly variable, even within the same family. There is also incomplete penetrance, such that mutation carriers may be asymptomatic, even if they have hypogammaglobulinemia. The gene involved, NFKB1, encodes a transcription factor that regulates the expression of target genes involved in the immune system, thus defining the phenotype as a disorder of immune dysregulation (summary by Fliegauf et al., 2015; Lorenzini et al., 2020). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
MedGen UID:
1648470
Concept ID:
C4721531
Disease or Syndrome
STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. Nonimmune features may include retained primary teeth, scoliosis, bone fractures following minimal trauma, joint hyperextensibility, and characteristic facial appearance, which typically emerges in adolescence. Vascular abnormalities have been described and include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease, esophageal dysmotility, and spontaneous intestinal perforations (some of which are associated with diverticuli). Fungal infections of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, with most individuals now living into or past the sixth decade. Most deaths are associated with gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency.
Combined immunodeficiency due to DOCK8 deficiency
MedGen UID:
1648410
Concept ID:
C4722305
Disease or Syndrome
Hyper-IgE syndrome-2 with recurrent infections (HIES2) is an autosomal recessive immunologic disorder characterized by recurrent staphylococcal infections of the skin and respiratory tract, eczema, elevated serum immunoglobulin E, and hypereosinophilia. It is distinguished from autosomal dominant HIES1 (147060) by the lack of connective tissue and skeletal involvement (Renner et al., 2004). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see 147060. See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006).
Immunodeficiency 60
MedGen UID:
1681890
Concept ID:
C5193072
Disease or Syndrome
Immunodeficiency-60 and autoimmunity (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation (summary by Afzali et al., 2017).
TFRC-related combined immunodeficiency
MedGen UID:
1799556
Concept ID:
C5568133
Disease or Syndrome
A rare genetic combined T and B cell immunodeficiency characterised by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhoea, severe recurrent infections and failure to thrive. Laboratory studies reveal hypo or agammaglobulinaemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anaemia (resistant to iron supplementation) with low mean corpuscular volume.
Immunodeficiency 97 with autoinflammation
MedGen UID:
1802936
Concept ID:
C5676946
Disease or Syndrome
Immunodeficiency-97 with autoinflammation (IMD97) is an autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH; see FHL1, 267700). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported (summary by Takeda et al., 2019 and Thian et al., 2020).
Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
MedGen UID:
1801342
Concept ID:
C5676971
Disease or Syndrome
Immunodeficiency-99 with hypogammaglobulinemia and autoimmune cytopenias (IMD99) is an autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment (Kuhny et al., 2020).

Professional guidelines

PubMed

Azarsiz E, Karaca NE, Gunaydin NC, Gulez N, Ozturk C, Aksu G, Genel F, Kutukculer N
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Recent clinical studies

Etiology

Gollapudi D, O'Donnell M, NeSmith M, Kent K, Hunter AJ
J Gen Intern Med 2020 Jan;35(1):341-344. doi: 10.1007/s11606-019-05435-3. PMID: 31677106Free PMC Article
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Chest 2019 Sep;156(3):579-593. Epub 2019 May 22 doi: 10.1016/j.chest.2019.05.009. PMID: 31128118
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Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003Free PMC Article
Su HC
Curr Opin Allergy Clin Immunol 2010 Dec;10(6):515-20. doi: 10.1097/ACI.0b013e32833fd718. PMID: 20864884Free PMC Article
Matel JL, Milla CE
Semin Respir Crit Care Med 2009 Oct;30(5):579-86. Epub 2009 Sep 16 doi: 10.1055/s-0029-1238916. PMID: 19760545

Diagnosis

Nazir HF, Al Sukaiti N, Khater D, Elbeshlawy I, Hassanein N
J Pediatr Hematol Oncol 2023 Apr 1;45(3):e389-e394. Epub 2022 Sep 21 doi: 10.1097/MPH.0000000000002552. PMID: 36162005
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Allergy Asthma Proc 2019 Nov 1;40(6):465-469. doi: 10.2500/aap.2019.40.4273. PMID: 31690396
Gupta S, Pattanaik D, Krishnaswamy G
Chest 2019 Sep;156(3):579-593. Epub 2019 May 22 doi: 10.1016/j.chest.2019.05.009. PMID: 31128118
Wall LA, Dimitriades VR, Sorensen RU
Immunol Allergy Clin North Am 2015 Nov;35(4):659-70. Epub 2015 Aug 25 doi: 10.1016/j.iac.2015.07.003. PMID: 26454312
White CJ, Gallin JI
Clin Immunol Immunopathol 1986 Jul;40(1):50-61. doi: 10.1016/0090-1229(86)90068-1. PMID: 2941193

Therapy

Rao VK, Kulm E, Šedivá A, Plebani A, Schuetz C, Shcherbina A, Dalm VA, Trizzino A, Zharankova Y, Webster S, Orpia A, Körholz J, Lougaris V, Rodina Y, Radford K, Bradt J, Relan A, Holland SM, Lenardo MJ, Uzel G
J Allergy Clin Immunol 2024 Jan;153(1):265-274.e9. Epub 2023 Oct 4 doi: 10.1016/j.jaci.2023.09.032. PMID: 37797893Free PMC Article
Alosaimi MF, Hoenig M, Jaber F, Platt CD, Jones J, Wallace J, Debatin KM, Schulz A, Jacobsen E, Möller P, Shamseldin HE, Abdulwahab F, Ibrahim N, Alardati H, Almuhizi F, Abosoudah IF, Basha TA, Chou J, Alkuraya FS, Geha RS
J Allergy Clin Immunol 2019 Aug;144(2):574-583.e5. Epub 2019 Mar 11 doi: 10.1016/j.jaci.2019.03.002. PMID: 30872117Free PMC Article
Tadesse A, Alemu H, Silamsaw M, Gebrewold Y
J Med Case Rep 2018 Jan 10;12(1):5. doi: 10.1186/s13256-017-1538-2. PMID: 29316973Free PMC Article
Jensen ML, Bendstrup E, Hilberg O
BMJ Case Rep 2015 Sep 30;2015 doi: 10.1136/bcr-2014-205635. PMID: 26424818Free PMC Article
Smith LL, Conerly SL
J Am Acad Dermatol 1985 Apr;12(4):681-96. doi: 10.1016/s0190-9622(85)70094-1. PMID: 2580869

Prognosis

Nissenkorn A, Ben-Zeev B
Handb Clin Neurol 2015;132:199-214. doi: 10.1016/B978-0-444-62702-5.00014-7. PMID: 26564081
Wall LA, Dimitriades VR, Sorensen RU
Immunol Allergy Clin North Am 2015 Nov;35(4):659-70. Epub 2015 Aug 25 doi: 10.1016/j.iac.2015.07.003. PMID: 26454312
Vickery JD, Michael CF, Lew DB
Cardiovasc Hematol Disord Drug Targets 2013 Aug;13(2):133-43. doi: 10.2174/1871529x11313020006. PMID: 23988001
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003Free PMC Article
White CJ, Gallin JI
Clin Immunol Immunopathol 1986 Jul;40(1):50-61. doi: 10.1016/0090-1229(86)90068-1. PMID: 2941193

Clinical prediction guides

Yamashita M, Morio T
J Clin Immunol 2024 May 22;44(6):128. doi: 10.1007/s10875-024-01730-9. PMID: 38773004Free PMC Article
Rao VK, Kulm E, Šedivá A, Plebani A, Schuetz C, Shcherbina A, Dalm VA, Trizzino A, Zharankova Y, Webster S, Orpia A, Körholz J, Lougaris V, Rodina Y, Radford K, Bradt J, Relan A, Holland SM, Lenardo MJ, Uzel G
J Allergy Clin Immunol 2024 Jan;153(1):265-274.e9. Epub 2023 Oct 4 doi: 10.1016/j.jaci.2023.09.032. PMID: 37797893Free PMC Article
Ballout RA, El-Hattab AW
Genes (Basel) 2021 Jun 4;12(6) doi: 10.3390/genes12060860. PMID: 34199727Free PMC Article
Wang Y, Wang W, Liu L, Hou J, Ying W, Hui X, Zhou Q, Liu D, Yao H, Sun J, Wang X
J Clin Immunol 2018 Nov;38(8):854-863. Epub 2018 Nov 29 doi: 10.1007/s10875-018-0568-x. PMID: 30499059
Su HC
Curr Opin Allergy Clin Immunol 2010 Dec;10(6):515-20. doi: 10.1097/ACI.0b013e32833fd718. PMID: 20864884Free PMC Article

Recent systematic reviews

Zafar A, Hall M
Pediatr Pulmonol 2023 Feb;58(2):475-483. Epub 2022 Nov 2 doi: 10.1002/ppul.26213. PMID: 36268989
Khan F, Person H, Dekio F, Ogawa M, Ho HE, Dunkin D, Secord E, Cunningham-Rundles C, Ward SC
J Allergy Clin Immunol Pract 2021 Sep;9(9):3466-3478. Epub 2021 May 21 doi: 10.1016/j.jaip.2021.04.070. PMID: 34029777Free PMC Article

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