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Generalized lymphadenopathy

MedGen UID:
96909
Concept ID:
C0476486
Finding
Synonym: Lymphadenopathy, generalized
SNOMED CT: Generalized lymph node enlargement (274741002); Generalized lymphadenopathy (274741002); Generalized enlarged lymph nodes (274741002)
 
HPO: HP:0008940

Definition

A generalized form of lymphadenopathy. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized lymphadenopathy

Conditions with this feature

Severe combined immunodeficiency due to DCLRE1C deficiency
MedGen UID:
355454
Concept ID:
C1865370
Disease or Syndrome
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
Sarcoidosis, susceptibility to, 1
MedGen UID:
394568
Concept ID:
C2697310
Finding
Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.
Combined immunodeficiency due to LRBA deficiency
MedGen UID:
766426
Concept ID:
C3553512
Disease or Syndrome
Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
MedGen UID:
816258
Concept ID:
C3809928
Disease or Syndrome
Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859.
Aicardi-Goutieres syndrome 7
MedGen UID:
854829
Concept ID:
C3888244
Disease or Syndrome
Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
MedGen UID:
863300
Concept ID:
C4014863
Disease or Syndrome
Immunodeficiency-27B (IMD27B) results from autosomal dominant (AD) IFNGR1 deficiency. Patients with AD IFNGR1 deficiency commonly present with recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin (BCG). In contrast with patients with complete autosomal recessive (AR) IFNGR1 deficiency (IMD27A), cells from patients with AD IFNGR1 deficiency display residual responses to IFNG in vitro, indicating that the deficiency in IFNGR1 is partial. The clinical features of AD IFNGR1 deficiency are usually less severe than those in children with complete AR IFNGR1 deficiency, and mycobacterial infection often occurs later (mean age of 13.4 years vs 1.3 years), with patients having longer mean disease-free survival. In patients with AD IFNGR1 deficiency, M. avium tends to cause unifocal or multifocal osteomyelitis. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
MedGen UID:
1740566
Concept ID:
C5436549
Disease or Syndrome
Immunodeficiency-73B with defective neutrophil chemotaxis (IMD73B) is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood. Affected individuals develop respiratory infections, cellulitis, and severe invasive infections or sepsis; organisms include bacteria such as Staphylococcus, as well as viruses, fungi, and mycobacterial species. Laboratory studies show variable abnormalities, including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TRECs and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis. Hematopoietic stem cell transplantation is curative (summary by Hsu et al., 2019; review by Lougaris et al., 2020). In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.
Joint contractures, osteochondromas, and B-cell lymphoma
MedGen UID:
1824078
Concept ID:
C5774305
Disease or Syndrome
Joint contractures, osteochondromas, and B-cell lymphoma (JCOSL) is an autosomal recessive systemic disorder characterized by the development of painless fixed contractures of the joints in early childhood. There is evidence of abnormal chondrocyte homeostasis, resulting in contractures, osteopenia, and the development of osteochondromas. Laboratory studies show abnormal levels and function of B- and T-cell subsets, and patients can develop B-cell lymphomas or malignancies. Despite the abnormalities in immunologic cells, immunodeficiency is not a feature of the disease, suggesting that it can be classified as a 'primary immune regulatory disorder' (Sharma et al., 2022).
Immunodeficiency 109 with lymphoproliferation
MedGen UID:
1840982
Concept ID:
C5830346
Disease or Syndrome
Immunodeficiency-109 with EBV-induced lymphoproliferation (IMD109) is an autosomal recessive primary immune disorder characterized by onset of recurrent sinopulmonary infections in childhood. Affected individuals are susceptible to infection with EBV and develop EBV viremia and EBV-associated lymphoproliferative disease or B-cell lymphoma. Immunologic work-up shows normal levels of T, B, and NK cells, with defective CD8+ T cell function after stimulation. Some patients may have hypogammaglobulinemia and poor antibody response to stimulation (Alosaimi et al., 2019).

Professional guidelines

PubMed

Sutera D, Bustaffa M, Papa R, Matucci-Cerinic C, Matarese S, D'Orsi C, Penco F, Prigione I, Palmeri S, Bovis F, Volpi S, Caorsi R, Gattorno M
Semin Arthritis Rheum 2022 Aug;55:152024. Epub 2022 May 10 doi: 10.1016/j.semarthrit.2022.152024. PMID: 35598507
Gaddey HL, Riegel AM
Am Fam Physician 2016 Dec 1;94(11):896-903. PMID: 27929264
Ferrer R
Am Fam Physician 1998 Oct 15;58(6):1313-20. PMID: 9803196

Recent clinical studies

Etiology

Pepe F, Disma S, Teodoro C, Pepe P, Magro G
Pathologica 2016 Sep;108(3):120-129. PMID: 28195263
Gaddey HL, Riegel AM
Am Fam Physician 2016 Dec 1;94(11):896-903. PMID: 27929264
Möbs M, Knott M, Fritzen B, Pullmann S, Sterry W, Assaf C
G Ital Dermatol Venereol 2010 Jun;145(3):385-91. PMID: 20461046
Leung AK, Robson WL
J Pediatr Health Care 2004 Jan-Feb;18(1):3-7. doi: 10.1016/j.pedhc.2003.08.008. PMID: 14722499Free PMC Article
Gong V
Am J Emerg Med 1984 Jul;2(4):336-46. doi: 10.1016/0735-6757(84)90131-1. PMID: 6097278

Diagnosis

González García A, Fernández-Martín J, Robles Marhuenda Á
Rheumatology (Oxford) 2023 Apr 3;62(4):1426-1435. doi: 10.1093/rheumatology/keac481. PMID: 35997567Free PMC Article
Daneshbod Y, Greas M, Kerstetter J, Medeiros LJ, Wang J
Cutis 2022 Mar;109(3):125-145. doi: 10.12788/cutis.0474. PMID: 35659143
Lee JJY, Schneider R
Pediatr Clin North Am 2018 Aug;65(4):691-709. doi: 10.1016/j.pcl.2018.04.005. PMID: 30031494
Gaddey HL, Riegel AM
Am Fam Physician 2016 Dec 1;94(11):896-903. PMID: 27929264
Boot JM, Oranje AP, de Groot R, Tan G, Stolz E
Int J STD AIDS 1992 May-Jun;3(3):161-7. doi: 10.1177/095646249200300302. PMID: 1616961

Therapy

Gomes K, Goldman RD
Can Fam Physician 2023 Feb;69(2):101-102. doi: 10.46747/cfp.6902101. PMID: 36813516Free PMC Article
Ashoka A, Bilal J
Am J Med 2021 Sep;134(9):e490-e491. Epub 2021 May 16 doi: 10.1016/j.amjmed.2021.03.048. PMID: 34010601
Lee JJY, Schneider R
Pediatr Clin North Am 2018 Aug;65(4):691-709. doi: 10.1016/j.pcl.2018.04.005. PMID: 30031494
Mosalpuria K, Bociek RG, Vose JM
Semin Hematol 2014 Jan;51(1):52-8. Epub 2013 Nov 14 doi: 10.1053/j.seminhematol.2013.11.008. PMID: 24468316
Gong V
Am J Emerg Med 1984 Jul;2(4):336-46. doi: 10.1016/0735-6757(84)90131-1. PMID: 6097278

Prognosis

Kušnierová P, Zeman D, Jelínek T, Hájek R
Klin Onkol 2020 Summer;33(4):282-285. doi: 10.14735/amko2020280. PMID: 32894957
Pepe F, Disma S, Teodoro C, Pepe P, Magro G
Pathologica 2016 Sep;108(3):120-129. PMID: 28195263
Fernandes FF, Alves VO, Sánchez TE, Paula WD, Santana AN
Rev Inst Med Trop Sao Paulo 2016 Jul 11;58:57. doi: 10.1590/S1678-9946201658057. PMID: 27410917Free PMC Article
Möbs M, Knott M, Fritzen B, Pullmann S, Sterry W, Assaf C
G Ital Dermatol Venereol 2010 Jun;145(3):385-91. PMID: 20461046
Gong V
Am J Emerg Med 1984 Jul;2(4):336-46. doi: 10.1016/0735-6757(84)90131-1. PMID: 6097278

Clinical prediction guides

Chen JH, Zheng X, Liu XQ
Chin Med J (Engl) 2017 May 5;130(9):1100-1112. doi: 10.4103/0366-6999.204940. PMID: 28469107Free PMC Article
Pepe F, Disma S, Teodoro C, Pepe P, Magro G
Pathologica 2016 Sep;108(3):120-129. PMID: 28195263
Savage KJ, Ferreri AJ, Zinzani PL, Pileri SA
Crit Rev Oncol Hematol 2011 Sep;79(3):321-9. Epub 2010 Aug 10 doi: 10.1016/j.critrevonc.2010.07.007. PMID: 20702104
Ferrer R
Am Fam Physician 1998 Oct 15;58(6):1313-20. PMID: 9803196
Said JW
Semin Diagn Pathol 1988 Nov;5(4):365-75. PMID: 3064217

Recent systematic reviews

Belyaeva E, Rubenstein A, Pierson SK, Dalldorf D, Frank D, Lim MS, Fajgenbaum DC
Hematol Oncol 2022 Apr;40(2):191-201. Epub 2022 Feb 18 doi: 10.1002/hon.2969. PMID: 35104370Free PMC Article
Mitsos S, Stamatopoulos A, Patrini D, George RS, Lawrence DR, Panagiotopoulos N
Adv Respir Med 2018;86(1):36-43. doi: 10.5603/ARM.2018.0008. PMID: 29490420
Chen JH, Zheng X, Liu XQ
Chin Med J (Engl) 2017 May 5;130(9):1100-1112. doi: 10.4103/0366-6999.204940. PMID: 28469107Free PMC Article

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