U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chronic noninfectious lymphadenopathy

MedGen UID:
395144
Concept ID:
C1858970
Finding
HPO: HP:0002730

Definition

A chronic form of lymphadenopathy that is not related to infection. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChronic noninfectious lymphadenopathy

Conditions with this feature

Autoimmune lymphoproliferative syndrome type 1
MedGen UID:
231300
Concept ID:
C1328840
Disease or Syndrome
Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.
Autoimmune lymphoproliferative syndrome type 2A
MedGen UID:
349065
Concept ID:
C1858968
Disease or Syndrome
Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.

Professional guidelines

PubMed

George LA, Teachey DT
Paediatr Drugs 2016 Aug;18(4):261-72. doi: 10.1007/s40272-016-0175-3. PMID: 27139496Free PMC Article

Recent clinical studies

Etiology

Gámez-Díaz L, Grimbacher B
Biomed J 2021 Aug;44(4):400-411. Epub 2021 Apr 19 doi: 10.1016/j.bj.2021.04.005. PMID: 34384744Free PMC Article
van de Ven A, Mader I, Wolff D, Goldacker S, Fuhrer H, Rauer S, Grimbacher B, Warnatz K
J Allergy Clin Immunol Pract 2020 Mar;8(3):1047-1062.e6. Epub 2019 Dec 16 doi: 10.1016/j.jaip.2019.11.039. PMID: 31857261
Cunningham-Rundles C
Blood 2019 Nov 21;134(21):1787-1795. doi: 10.1182/blood.2019002062. PMID: 31751486Free PMC Article
Azizi G, Bagheri Y, Tavakol M, Askarimoghaddam F, Porrostami K, Rafiemanesh H, Yazdani R, Kiaee F, Habibi S, Abouhamzeh K, Mohammadi H, Qorbani M, Abolhassani H, Aghamohammadi A
Endocr Metab Immune Disord Drug Targets 2018;18(5):537-545. doi: 10.2174/1871530318666180413110216. PMID: 29651973
Milito C, Pulvirenti F, Serra G, Valente M, Pesce AM, Granata G, Catalano C, Fraioli F, Quinti I
J Clin Immunol 2015 Jul;35(5):491-500. Epub 2015 Jun 12 doi: 10.1007/s10875-015-0172-2. PMID: 26067227Free PMC Article

Diagnosis

Gámez-Díaz L, Grimbacher B
Biomed J 2021 Aug;44(4):400-411. Epub 2021 Apr 19 doi: 10.1016/j.bj.2021.04.005. PMID: 34384744Free PMC Article
Cunningham-Rundles C
Hematology Am Soc Hematol Educ Program 2019 Dec 6;2019(1):449-456. doi: 10.1182/hematology.2019002062. PMID: 31808912Free PMC Article
Cunningham-Rundles C
Blood 2019 Nov 21;134(21):1787-1795. doi: 10.1182/blood.2019002062. PMID: 31751486Free PMC Article
Azizi G, Bagheri Y, Tavakol M, Askarimoghaddam F, Porrostami K, Rafiemanesh H, Yazdani R, Kiaee F, Habibi S, Abouhamzeh K, Mohammadi H, Qorbani M, Abolhassani H, Aghamohammadi A
Endocr Metab Immune Disord Drug Targets 2018;18(5):537-545. doi: 10.2174/1871530318666180413110216. PMID: 29651973
George LA, Teachey DT
Paediatr Drugs 2016 Aug;18(4):261-72. doi: 10.1007/s40272-016-0175-3. PMID: 27139496Free PMC Article

Therapy

George LA, Teachey DT
Paediatr Drugs 2016 Aug;18(4):261-72. doi: 10.1007/s40272-016-0175-3. PMID: 27139496Free PMC Article
Nabhani S, Ginzel S, Miskin H, Revel-Vilk S, Harlev D, Fleckenstein B, Hönscheid A, Oommen PT, Kuhlen M, Thiele R, Laws HJ, Borkhardt A, Stepensky P, Fischer U
Haematologica 2015 Sep;100(9):1189-98. Epub 2015 Jun 25 doi: 10.3324/haematol.2014.114967. PMID: 26113417Free PMC Article
Milito C, Pulvirenti F, Serra G, Valente M, Pesce AM, Granata G, Catalano C, Fraioli F, Quinti I
J Clin Immunol 2015 Jul;35(5):491-500. Epub 2015 Jun 12 doi: 10.1007/s10875-015-0172-2. PMID: 26067227Free PMC Article

Prognosis

Gámez-Díaz L, Grimbacher B
Biomed J 2021 Aug;44(4):400-411. Epub 2021 Apr 19 doi: 10.1016/j.bj.2021.04.005. PMID: 34384744Free PMC Article
Azizi G, Bagheri Y, Tavakol M, Askarimoghaddam F, Porrostami K, Rafiemanesh H, Yazdani R, Kiaee F, Habibi S, Abouhamzeh K, Mohammadi H, Qorbani M, Abolhassani H, Aghamohammadi A
Endocr Metab Immune Disord Drug Targets 2018;18(5):537-545. doi: 10.2174/1871530318666180413110216. PMID: 29651973

Clinical prediction guides

Grenier PA, Brun AL, Longchampt E, Lipski M, Mellot F, Catherinot E
Eur Radiol 2024 Jun;34(6):4142-4154. Epub 2023 Nov 8 doi: 10.1007/s00330-023-10334-7. PMID: 37935849Free PMC Article
Gámez-Díaz L, Grimbacher B
Biomed J 2021 Aug;44(4):400-411. Epub 2021 Apr 19 doi: 10.1016/j.bj.2021.04.005. PMID: 34384744Free PMC Article
Azizi G, Bagheri Y, Tavakol M, Askarimoghaddam F, Porrostami K, Rafiemanesh H, Yazdani R, Kiaee F, Habibi S, Abouhamzeh K, Mohammadi H, Qorbani M, Abolhassani H, Aghamohammadi A
Endocr Metab Immune Disord Drug Targets 2018;18(5):537-545. doi: 10.2174/1871530318666180413110216. PMID: 29651973
Nabhani S, Ginzel S, Miskin H, Revel-Vilk S, Harlev D, Fleckenstein B, Hönscheid A, Oommen PT, Kuhlen M, Thiele R, Laws HJ, Borkhardt A, Stepensky P, Fischer U
Haematologica 2015 Sep;100(9):1189-98. Epub 2015 Jun 25 doi: 10.3324/haematol.2014.114967. PMID: 26113417Free PMC Article
Milito C, Pulvirenti F, Serra G, Valente M, Pesce AM, Granata G, Catalano C, Fraioli F, Quinti I
J Clin Immunol 2015 Jul;35(5):491-500. Epub 2015 Jun 12 doi: 10.1007/s10875-015-0172-2. PMID: 26067227Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...