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Immunodeficiency 60(BRIDA; IMD60)

MedGen UID:
1681890
Concept ID:
C5193072
Disease or Syndrome
Synonyms: IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMMUNODEFICIENCY AND AUTOIMMUNITY, BACH2-RELATED
 
Gene (location): BACH2 (6q15)
 
Monarch Initiative: MONDO:0032723
OMIM®: 618394

Definition

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). [from OMIM]

Clinical features

From HPO
Colitis
MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.
Ulcerative colitis
MedGen UID:
3532
Concept ID:
C0009324
Disease or Syndrome
A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.
Crohn disease
MedGen UID:
3664
Concept ID:
C0010346
Disease or Syndrome
A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Pulmonary fibrosis
MedGen UID:
11028
Concept ID:
C0034069
Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
Pulmonary infiltrates
MedGen UID:
116009
Concept ID:
C0235896
Finding
A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.
Recurrent sinopulmonary infections
MedGen UID:
339549
Concept ID:
C1846546
Finding
An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Decreased circulating IgA level
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Decreased circulating IgE
MedGen UID:
1714318
Concept ID:
C0853668
Finding
An abnormally decreased level of immunoglobulin E (IgE) in blood.
Decreased basophil count
MedGen UID:
1630957
Concept ID:
C0855987
Finding
An abnormally reduced count of basophils per volume in the blood circulation.
Decreased proportion of memory B cells
MedGen UID:
893145
Concept ID:
C4072913
Finding
A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
Perinuclear antineutrophil antibody positivity
MedGen UID:
1696202
Concept ID:
C5139209
Laboratory or Test Result
The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.
Decreased circulating IgG level
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.

Professional guidelines

PubMed

Oodit R, Biccard BM, Panieri E, Alvarez AO, Sioson MRS, Maswime S, Thomas V, Kluyts HL, Peden CJ, de Boer HD, Brindle M, Francis NK, Nelson G, Gustafsson UO, Ljungqvist O
World J Surg 2022 Aug;46(8):1826-1843. Epub 2022 May 31 doi: 10.1007/s00268-022-06587-w. PMID: 35641574Free PMC Article
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR
J Allergy Clin Immunol 2017 Jan;139(1):232-245. Epub 2016 Jul 16 doi: 10.1016/j.jaci.2016.05.042. PMID: 27577878Free PMC Article
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714

Recent clinical studies

Etiology

Padole PS, Padhiyar RN, Yadav DS, Chavan SA
J Assoc Physicians India 2023 Jun;71(6):11-12. doi: 10.5005/japi-11001-0272. PMID: 37355842
Dangerfield DT 2nd, Davis G, Pandian V, Anderson JN
Prev Sci 2023 Oct;24(7):1365-1375. Epub 2023 May 30 doi: 10.1007/s11121-023-01554-w. PMID: 37249729Free PMC Article
Sherwood J, Lankiewicz E, Castellanos E, O'Connor N, Theron L, Restar A
J Int AIDS Soc 2021 Nov;24(11):e25837. doi: 10.1002/jia2.25837. PMID: 34761871Free PMC Article
Romberg N, Lawrence MG
Ann Allergy Asthma Immunol 2019 Nov;123(5):461-467. Epub 2019 Aug 2 doi: 10.1016/j.anai.2019.07.027. PMID: 31382019
Abbott JK, Gelfand EW
Immunol Allergy Clin North Am 2015 Nov;35(4):637-58. Epub 2015 Sep 4 doi: 10.1016/j.iac.2015.07.009. PMID: 26454311

Diagnosis

Romberg N, Lawrence MG
Ann Allergy Asthma Immunol 2019 Nov;123(5):461-467. Epub 2019 Aug 2 doi: 10.1016/j.anai.2019.07.027. PMID: 31382019
Aksamit TR, O'Donnell AE, Barker A, Olivier KN, Winthrop KL, Daniels MLA, Johnson M, Eden E, Griffith D, Knowles M, Metersky M, Salathe M, Thomashow B, Tino G, Turino G, Carretta B, Daley CL; Bronchiectasis Research Registry Consortium
Chest 2017 May;151(5):982-992. Epub 2016 Nov 23 doi: 10.1016/j.chest.2016.10.055. PMID: 27889361Free PMC Article
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR
J Allergy Clin Immunol 2017 Jan;139(1):232-245. Epub 2016 Jul 16 doi: 10.1016/j.jaci.2016.05.042. PMID: 27577878Free PMC Article
Abbott JK, Gelfand EW
Immunol Allergy Clin North Am 2015 Nov;35(4):637-58. Epub 2015 Sep 4 doi: 10.1016/j.iac.2015.07.009. PMID: 26454311
McGuinness G, Gruden JF, Bhalla M, Harkin TJ, Jagirdar JS, Naidich DP
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Therapy

Alexander S, Aupérin A, Bomken S, Csóka M, Kazanowska B, Chiang AK, Andres M, Uyttebroeck A, Burke GAA, Zsiros J, Pillon M, Bollard CM, Mussolin L, Verdu-Amoros J, Neven B, Barkauskas DA, Wheatley K, Patte C, Gross TG, Minard-Colin V; Children's Oncology Group; European Intergroup for Childhood Non-Hodgkin's Lymphoma
Lancet Haematol 2023 Jun;10(6):e445-e457. Epub 2023 Apr 21 doi: 10.1016/S2352-3026(23)00062-5. PMID: 37094596Free PMC Article
Shillitoe BMJ, Gennery AR
Curr Opin Allergy Clin Immunol 2019 Dec;19(6):571-577. doi: 10.1097/ACI.0000000000000584. PMID: 31464718
Zhang W, Sun H, Atiquzzaman M, Sou J, Anis AH, Cooper C
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Prognosis

Vermund SH
Curr HIV/AIDS Rep 2022 Dec;19(6):471-473. doi: 10.1007/s11904-022-00631-z. PMID: 36478080Free PMC Article
Szczawinska-Poplonyk A, Schwartzmann E, Bukowska-Olech E, Biernat M, Gattner S, Korobacz T, Nowicki F, Wiczuk-Wiczewska M
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Clinical prediction guides

Correa-Jimenez O, Restrepo-Gualteros S, Nino G, Cunningham-Rundles C, Sullivan KE, Fuleihan RL, Gutierrez MJ
J Clin Immunol 2023 Nov;43(8):2208-2220. Epub 2023 Nov 7 doi: 10.1007/s10875-023-01593-6. PMID: 37932514
Cabañero-Navalon MD, Garcia-Bustos V, Nuñez-Beltran M, Císcar Fernández P, Mateu L, Solanich X, Carrillo-Linares JL, Robles-Marhuenda Á, Puchades-Gimeno F, Pelaez Ballesta A, López-Osle N, Torralba-Cabeza MÁ, Bielsa Masdeu AM, Diego Gil J, Tornador Gaya N, Pascual Castellanos G, Sánchez-Martínez R, Barragán-Casas JM, González-García A, Patier de la Peña JL, López-Wolf D, Mora Rufete A, Canovas Mora A, Forner Giner MJ, Moral Moral P
Front Immunol 2022;13:1033666. Epub 2022 Oct 28 doi: 10.3389/fimmu.2022.1033666. PMID: 36389743Free PMC Article
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M
Front Immunol 2019;10:23. Epub 2019 Feb 4 doi: 10.3389/fimmu.2019.00023. PMID: 30778343Free PMC Article
Kanariou M, Spanou K, Tantou S
Curr Opin Hematol 2018 Jan;25(1):7-12. doi: 10.1097/MOH.0000000000000396. PMID: 29135572
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR
J Allergy Clin Immunol 2017 Jan;139(1):232-245. Epub 2016 Jul 16 doi: 10.1016/j.jaci.2016.05.042. PMID: 27577878Free PMC Article

Recent systematic reviews

Mirbeyk M, Saghazadeh A, Rezaei N
Arch Gynecol Obstet 2021 Jul;304(1):5-38. Epub 2021 Apr 2 doi: 10.1007/s00404-021-06049-z. PMID: 33797605Free PMC Article
McKay SL, Guo A, Pergam SA, Dooling K
Clin Infect Dis 2020 Oct 23;71(7):e125-e134. doi: 10.1093/cid/ciz1090. PMID: 31677266Free PMC Article
Pankhurst CL
BMJ Clin Evid 2013 Nov 8;2013:1304. PMID: 24209593Free PMC Article
Pankhurst CL
BMJ Clin Evid 2012 Feb 20;2012 PMID: 22348417Free PMC Article
Singh JA, Wells GA, Christensen R, Tanjong Ghogomu E, Maxwell L, Macdonald JK, Filippini G, Skoetz N, Francis D, Lopes LC, Guyatt GH, Schmitt J, La Mantia L, Weberschock T, Roos JF, Siebert H, Hershan S, Lunn MP, Tugwell P, Buchbinder R
Cochrane Database Syst Rev 2011 Feb 16;2011(2):CD008794. doi: 10.1002/14651858.CD008794.pub2. PMID: 21328309Free PMC Article

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