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Immunodeficiency, common variable, 13(CVID13)

MedGen UID:
905078
Concept ID:
C4225173
Disease or Syndrome
Synonyms: CVID13
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): IKZF1 (7p12.2)
OMIM®: 616873
Orphanet: ORPHA317473

Definition

Common variable immunodeficiency-13 is an autosomal dominant primary immunodeficiency disorder characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells. The age at onset of clinical features can range from infancy to adulthood, and some patients may have a mild disorder or even remain clinically asymptomatic (summary by Kuehn et al., 2016). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). [from GTR]

Additional descriptions

From OMIM
Common variable immunodeficiency-13 is an autosomal dominant primary immunodeficiency disorder characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells. The age at onset of clinical features can range from infancy to adulthood, and some patients may have a mild disorder or even remain clinically asymptomatic (summary by Kuehn et al., 2016). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).  http://www.omim.org/entry/616873
From GHR
Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in cell fragments involved in blood clotting called platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer.People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.There are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.  https://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency, common variable, 13

Recent clinical studies

Etiology

Ebbo M, Gérard L, Carpentier S, Vély F, Cypowyj S, Farnarier C, Vince N, Malphettes M, Fieschi C, Oksenhendler E, Schleinitz N, Vivier E; DEFI Study Group.
EBioMedicine 2016 Apr;6:222-230. Epub 2016 Mar 2 doi: 10.1016/j.ebiom.2016.02.025. PMID: 27211564Free PMC Article
Berrón-Ruiz L, López-Herrera G, Vargas-Hernández A, Santos-Argumedo L, López-Macías C, Isibasi A, Segura-Méndez NH, Bonifaz L
Clin Immunol 2016 May;166-167:19-26. Epub 2016 Apr 4 doi: 10.1016/j.clim.2016.03.013. PMID: 27057998
Dong J, Liang H, Wen D, Wang J
Am J Med Sci 2016 Mar;351(3):239-43. doi: 10.1016/j.amjms.2015.12.010. PMID: 26992251
Compeer EB, Janssen W, van Royen-Kerkhof A, van Gijn M, van Montfrans JM, Boes M
Oncotarget 2015 May 10;6(13):10759-71. doi: 10.18632/oncotarget.3577. PMID: 25926555Free PMC Article
Lougaris V, Ravelli A, Villanacci V, Salemme M, Soresina A, Fuoti M, Lanzarotto F, Lanzini A, Plebani A, Bassotti G
Dig Dis Sci 2015 Aug;60(8):2384-9. Epub 2015 Mar 28 doi: 10.1007/s10620-015-3638-4. PMID: 25821101

Diagnosis

Azizi G, Abolhassani H, Asgardoon MH, Alinia T, Yazdani R, Mohammadi J, Rezaei N, Ochs HD, Aghamohammadi A
Expert Rev Clin Immunol 2017 Feb;13(2):101-115. Epub 2016 Sep 16 doi: 10.1080/1744666X.2016.1224664. PMID: 27636680
Dong J, Liang H, Wen D, Wang J
Am J Med Sci 2016 Mar;351(3):239-43. doi: 10.1016/j.amjms.2015.12.010. PMID: 26992251
Compeer EB, Janssen W, van Royen-Kerkhof A, van Gijn M, van Montfrans JM, Boes M
Oncotarget 2015 May 10;6(13):10759-71. doi: 10.18632/oncotarget.3577. PMID: 25926555Free PMC Article
Ramírez-Vargas N, Arablin-Oropeza SE, Mojica-Martínez D, Yamazaki-Nakashimada MA, de la Luz García-Cruz M, Terán-Juárez LM, Cortés-Grimaldo RM, Torres-Lozano C, Madrigal-Beas I, Ortega-Cisneros M, Vargas-Camaño ME, Staines-Boone T, Pietropaolo-Cienfuegos D, Berrón-Ruiz L, Espinosa-Rosales FJ, Guevara-Cruz M, Blancas-Galicia L
Allergol Immunopathol (Madr) 2014 May-Jun;42(3):235-40. Epub 2013 Apr 8 doi: 10.1016/j.aller.2013.01.007. PMID: 23578780
Urm SH, Yun HD, Fenta YA, Yoo KH, Abraham RS, Hagan J, Juhn YJ
Mayo Clin Proc 2013 Aug;88(8):813-21. doi: 10.1016/j.mayocp.2013.05.021. PMID: 23910409Free PMC Article

Therapy

Dong J, Liang H, Wen D, Wang J
Am J Med Sci 2016 Mar;351(3):239-43. doi: 10.1016/j.amjms.2015.12.010. PMID: 26992251
Saldaña Dueñas C, Rubio Iturria S
Rev Esp Enferm Dig 2016 Aug;108(8):520-3. doi: 10.17235/reed.2015.3872/2015. PMID: 26666337
Gao Y, Workman S, Gadola S, Elliott T, Grimbacher B, Williams AP
J Allergy Clin Immunol 2014 May;133(5):1420-8, 1428.e1. Epub 2014 Feb 26 doi: 10.1016/j.jaci.2013.10.059. PMID: 24582167
Ramírez-Vargas N, Arablin-Oropeza SE, Mojica-Martínez D, Yamazaki-Nakashimada MA, de la Luz García-Cruz M, Terán-Juárez LM, Cortés-Grimaldo RM, Torres-Lozano C, Madrigal-Beas I, Ortega-Cisneros M, Vargas-Camaño ME, Staines-Boone T, Pietropaolo-Cienfuegos D, Berrón-Ruiz L, Espinosa-Rosales FJ, Guevara-Cruz M, Blancas-Galicia L
Allergol Immunopathol (Madr) 2014 May-Jun;42(3):235-40. Epub 2013 Apr 8 doi: 10.1016/j.aller.2013.01.007. PMID: 23578780
Yim HE, Yoo KH
J Korean Med Sci 2012 Nov;27(11):1436-8. Epub 2012 Oct 30 doi: 10.3346/jkms.2012.27.11.1436. PMID: 23166431Free PMC Article

Prognosis

Zdziarski P, Gamian A, Dworacki G
Medicine (Baltimore) 2017 Jun;96(23):e7031. doi: 10.1097/MD.0000000000007031. PMID: 28591035Free PMC Article
Hartono S, Motosue MS, Khan S, Rodriguez V, Iyer VN, Divekar R, Joshi AY
Ann Allergy Asthma Immunol 2017 May;118(5):614-620. Epub 2017 Feb 20 doi: 10.1016/j.anai.2017.01.004. PMID: 28254202
Mannina A, Chung JH, Swigris JJ, Solomon JJ, Huie TJ, Yunt ZX, Truong TQ, Brown KK, Achcar RD, Olson AL, Cox CW, Kligerman SJ, Curran-Everett D, Fernández Pérez ER
Ann Am Thorac Soc 2016 Jul;13(7):1042-9. doi: 10.1513/AnnalsATS.201511-728OC. PMID: 27064856
Tseng CW, Lai KL, Chen DY, Lin CH, Chen HH
PLoS One 2015;10(10):e0140473. Epub 2015 Oct 13 doi: 10.1371/journal.pone.0140473. PMID: 26461272Free PMC Article
Urm SH, Yun HD, Fenta YA, Yoo KH, Abraham RS, Hagan J, Juhn YJ
Mayo Clin Proc 2013 Aug;88(8):813-21. doi: 10.1016/j.mayocp.2013.05.021. PMID: 23910409Free PMC Article

Clinical prediction guides

Zdziarski P, Gamian A, Dworacki G
Medicine (Baltimore) 2017 Jun;96(23):e7031. doi: 10.1097/MD.0000000000007031. PMID: 28591035Free PMC Article
Ebbo M, Gérard L, Carpentier S, Vély F, Cypowyj S, Farnarier C, Vince N, Malphettes M, Fieschi C, Oksenhendler E, Schleinitz N, Vivier E; DEFI Study Group.
EBioMedicine 2016 Apr;6:222-230. Epub 2016 Mar 2 doi: 10.1016/j.ebiom.2016.02.025. PMID: 27211564Free PMC Article
Mannina A, Chung JH, Swigris JJ, Solomon JJ, Huie TJ, Yunt ZX, Truong TQ, Brown KK, Achcar RD, Olson AL, Cox CW, Kligerman SJ, Curran-Everett D, Fernández Pérez ER
Ann Am Thorac Soc 2016 Jul;13(7):1042-9. doi: 10.1513/AnnalsATS.201511-728OC. PMID: 27064856
Berrón-Ruiz L, López-Herrera G, Vargas-Hernández A, Santos-Argumedo L, López-Macías C, Isibasi A, Segura-Méndez NH, Bonifaz L
Clin Immunol 2016 May;166-167:19-26. Epub 2016 Apr 4 doi: 10.1016/j.clim.2016.03.013. PMID: 27057998
Gao Y, Workman S, Gadola S, Elliott T, Grimbacher B, Williams AP
J Allergy Clin Immunol 2014 May;133(5):1420-8, 1428.e1. Epub 2014 Feb 26 doi: 10.1016/j.jaci.2013.10.059. PMID: 24582167

Recent systematic reviews

Schwitzguébel AJ, Jandus P, Lacroix JS, Seebach JD, Harr T
J Allergy Clin Immunol 2015 Dec;136(6):1523-1531. Epub 2015 Aug 29 doi: 10.1016/j.jaci.2015.07.016. PMID: 26329513
Levy R, Mahévas M, Galicier L, Boutboul D, Moroch J, Loustau V, Guillaud C, Languille L, Fain O, Bierling P, Khellaf M, Michel M, Oksenhendler E, Godeau B
Autoimmun Rev 2014 Oct;13(10):1055-63. Epub 2014 Aug 27 doi: 10.1016/j.autrev.2014.08.036. PMID: 25183241
Freed EO
Somat Cell Mol Genet 2001 Nov;26(1-6):13-33. PMID: 12465460

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