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Autosomal recessive lymphoproliferative disease

MedGen UID:
1661274
•Concept ID:
C4749826
•
Disease or Syndrome
Synonyms: Autosomal recessive lymphoproliferative disease due to CD27 deficiency; CD27 deficiency; Combined immunodeficiency due to CD27 deficiency
SNOMED CT: Autosomal recessive lymphoproliferative disease (771309000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Orphanet: ORPHA238505

Definition

A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterised by persistent symptomatic Epstein-Barr viraemia and hypogammaglobulinaemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, haemophagocytic lymphohistiocytosis, and aplastic anaemia. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive lymphoproliferative disease

Professional guidelines

PubMed

Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.
Pashangzadeh S, Yazdani R, Nazari F, Azizi G, Abolhassani H, Aghamohammadi A
Endocr Metab Immune Disord Drug Targets 2020;20(9):1434-1447. doi: 10.2174/1871530320666200508114349. PMID: 32384040
Bladder Artery Embolization for Massive Hematuria Treatment in a Patient With Ataxia-Telangiectasia Acute Lymphoblastic Leukemia.
Bahadir A, Oguz Ş, Erduran E, Dinç H, Yalçin Cömert HS, Bahat Özdogan E, Kaya G
J Pediatr Hematol Oncol 2020 May;42(4):316-318. doi: 10.1097/MPH.0000000000001471. PMID: 30933018
Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders.
Puck JM
Pediatr Res 1993 Jan;33(1 Suppl):S29-33; discussion S33-4. doi: 10.1203/00006450-199305001-00158. PMID: 8433872

Recent clinical studies

Etiology

H syndrome treated with Tocilizumab: two case reports and literature review.
Jacquot R, Jouret M, Valentin MG, Richard M, Jamilloux Y, Rousset F, Emile JF, Haroche J, Steinmüller L, Zekre F, Phan A, Belot A, Seve P
Front Immunol 2023;14:1061182. Epub 2023 Aug 11 doi: 10.3389/fimmu.2023.1061182. PMID: 37638031Free PMC Article
Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.
Ripperger T, Schlegelberger B
Eur J Med Genet 2016 Mar;59(3):133-42. Epub 2015 Dec 30 doi: 10.1016/j.ejmg.2015.12.014. PMID: 26743104
Gaucher disease and myeloma.
Ayto R, Hughes DA
Crit Rev Oncog 2013;18(3):247-68. doi: 10.1615/critrevoncog.2013006061. PMID: 23510067
Ig beta deficiency in humans.
Lougaris V, Ferrari S, Plebani A
Curr Opin Allergy Clin Immunol 2008 Dec;8(6):515-9. doi: 10.1097/ACI.0b013e328314b621. PMID: 18978465
Hemophagocytic lymphohistiocytosis and related disorders.
Filipovich AH
Curr Opin Allergy Clin Immunol 2006 Dec;6(6):410-5. doi: 10.1097/01.all.0000246626.57118.d9. PMID: 17088644

Diagnosis

Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.
Cardenas-Morales M, Hernandez-Trujillo VP
Clin Rev Allergy Immunol 2022 Aug;63(1):22-35. Epub 2021 Jul 9 doi: 10.1007/s12016-021-08870-5. PMID: 34241796Free PMC Article
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
Kim J, Gianferante M, Karyadi DM, Hartley SW, Frone MN, Luo W, Robison LL, Armstrong GT, Bhatia S, Dean M, Yeager M, Zhu B, Song L, Sampson JN, Yasui Y, Leisenring WM, Brodie SA, de Andrade KC, Fortes FP, Goldstein AM, Khincha PP, Machiela MJ, McMaster ML, Nickerson ML, Oba L, Pemov A, Pinheiro M, Rotunno M, Santiago K, Wegman-Ostrosky T, Diver WR, Teras L, Freedman ND, Hicks BD, Zhu B, Wang M, Jones K, Hutchinson AA, Dagnall C, Savage SA, Tucker MA, Chanock SJ, Morton LM, Stewart DR, Mirabello L
JNCI Cancer Spectr 2021 Apr;5(2) Epub 2021 Jan 23 doi: 10.1093/jncics/pkab007. PMID: 34308104Free PMC Article
Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.
Pashangzadeh S, Yazdani R, Nazari F, Azizi G, Abolhassani H, Aghamohammadi A
Endocr Metab Immune Disord Drug Targets 2020;20(9):1434-1447. doi: 10.2174/1871530320666200508114349. PMID: 32384040
Hemophagocytic Lymphohistiocytosis: Clinical Presentations and Diagnosis.
Risma KA, Marsh RA
J Allergy Clin Immunol Pract 2019 Mar;7(3):824-832. Epub 2018 Dec 14 doi: 10.1016/j.jaip.2018.11.050. PMID: 30557712
Gaucher disease and myeloma.
Ayto R, Hughes DA
Crit Rev Oncog 2013;18(3):247-68. doi: 10.1615/critrevoncog.2013006061. PMID: 23510067

Therapy

Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.
Pashangzadeh S, Yazdani R, Nazari F, Azizi G, Abolhassani H, Aghamohammadi A
Endocr Metab Immune Disord Drug Targets 2020;20(9):1434-1447. doi: 10.2174/1871530320666200508114349. PMID: 32384040
Common variable immune deficiency: Dissection of the variable.
Cunningham-Rundles C
Immunol Rev 2019 Jan;287(1):145-161. doi: 10.1111/imr.12728. PMID: 30565247Free PMC Article
Cereblon: A Protein Crucial to the Multiple Functions of Immunomodulatory Drugs as well as Cell Metabolism and Disease Generation.
Shi Q, Chen L
J Immunol Res 2017;2017:9130608. Epub 2017 Aug 15 doi: 10.1155/2017/9130608. PMID: 28894755Free PMC Article
Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome.
Pastorczak A, Szczepanski T, Mlynarski W; International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group
Eur J Med Genet 2016 Mar;59(3):126-32. Epub 2016 Jan 27 doi: 10.1016/j.ejmg.2016.01.007. PMID: 26826318
Gaucher disease: haematological presentations and complications.
Thomas AS, Mehta A, Hughes DA
Br J Haematol 2014 May;165(4):427-40. Epub 2014 Mar 3 doi: 10.1111/bjh.12804. PMID: 24588457

Prognosis

Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.
Cardenas-Morales M, Hernandez-Trujillo VP
Clin Rev Allergy Immunol 2022 Aug;63(1):22-35. Epub 2021 Jul 9 doi: 10.1007/s12016-021-08870-5. PMID: 34241796Free PMC Article
Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.
Pashangzadeh S, Yazdani R, Nazari F, Azizi G, Abolhassani H, Aghamohammadi A
Endocr Metab Immune Disord Drug Targets 2020;20(9):1434-1447. doi: 10.2174/1871530320666200508114349. PMID: 32384040
Gaucher disease and myeloma.
Ayto R, Hughes DA
Crit Rev Oncog 2013;18(3):247-68. doi: 10.1615/critrevoncog.2013006061. PMID: 23510067
Chediak-Higashi syndrome.
Kaplan J, De Domenico I, Ward DM
Curr Opin Hematol 2008 Jan;15(1):22-9. doi: 10.1097/MOH.0b013e3282f2bcce. PMID: 18043242
Hemophagocytic lymphohistiocytosis and related disorders.
Filipovich AH
Curr Opin Allergy Clin Immunol 2006 Dec;6(6):410-5. doi: 10.1097/01.all.0000246626.57118.d9. PMID: 17088644

Clinical prediction guides

Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.
Cardenas-Morales M, Hernandez-Trujillo VP
Clin Rev Allergy Immunol 2022 Aug;63(1):22-35. Epub 2021 Jul 9 doi: 10.1007/s12016-021-08870-5. PMID: 34241796Free PMC Article
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ
J Clin Immunol 2018 May;38(4):484-493. Epub 2018 May 9 doi: 10.1007/s10875-018-0496-9. PMID: 29744787
Chediak-Higashi syndrome.
Kaplan J, De Domenico I, Ward DM
Curr Opin Hematol 2008 Jan;15(1):22-9. doi: 10.1097/MOH.0b013e3282f2bcce. PMID: 18043242
ATM gene and lymphoid malignancies.
Gumy-Pause F, Wacker P, Sappino AP
Leukemia 2004 Feb;18(2):238-42. doi: 10.1038/sj.leu.2403221. PMID: 14628072
Familial hemophagocytic lymphohistiocytosis: too little cell death can seriously damage your health.
Fadeel B, Orrenius S, Henter JI
Leuk Lymphoma 2001 Jun;42(1-2):13-20. doi: 10.3109/10428190109097672. PMID: 11699200

Recent systematic reviews

Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022).
Habib Dzulkarnain SM, Hashim IF, Zainudeen ZT, Taib F, Mohamad N, Nasir A, Wan Ab Rahman WS, Ariffin H, Abd Hamid IJ
J Clin Immunol 2023 Oct;43(7):1623-1639. Epub 2023 Jun 16 doi: 10.1007/s10875-023-01532-5. PMID: 37328647
Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.
Kiaee F, Zaki-Dizaji M, Hafezi N, Almasi-Hashiani A, Hamedifar H, Sabzevari A, Shirkani A, Zian Z, Jadidi-Niaragh F, Aghamahdi F, Goudarzvand M, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Endocr Metab Immune Disord Drug Targets 2021;21(4):664-672. doi: 10.2174/1871530320666200613204426. PMID: 32533820

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