U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Immunodeficiency 37(IMD37)

MedGen UID:
863632
Concept ID:
C4015195
Disease or Syndrome
Synonym: IMD37
 
Gene (location): BCL10 (1p22.3)
 
Monarch Initiative: MONDO:0014491
OMIM®: 616098

Definition

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene. [from MONDO]

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.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Status epilepticus
MedGen UID:
11586
Concept ID:
C0038220
Disease or Syndrome
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Infectious encephalitis
MedGen UID:
108917
Concept ID:
C0596773
Disease or Syndrome
A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.
Decreased circulating antibody level
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
Decreased proportion of central memory CD4-positive, alpha-beta T cells
MedGen UID:
1697420
Concept ID:
C5139549
Finding
A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.

Professional guidelines

PubMed

Marin S, Quiñones C, Codina-Jiménez C, Valls E, Terricabras E, Estrada L, Cardona G, Andreu À
AIDS Rev 2023;25(1):27-40. doi: 10.24875/AIDSRev.M23000059. PMID: 36952662
Etemad B, Sun X, Li Y, Melberg M, Moisi D, Gottlieb R, Ahmed H, Aga E, Bosch RJ, Acosta EP, Yuki Y, Martin MP, Carrington M, Gandhi RT, Jacobson JM, Volberding P, Connick E, Mitsuyasu R, Frank I, Saag M, Eron JJ, Skiest D, Margolis DM, Havlir D, Schooley RT, Lederman MM, Yu XG, Li JZ
Proc Natl Acad Sci U S A 2023 Mar 14;120(11):e2218960120. Epub 2023 Mar 6 doi: 10.1073/pnas.2218960120. PMID: 36877848Free PMC Article
Galiè N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M; ESC Scientific Document Group
Eur Heart J 2016 Jan 1;37(1):67-119. Epub 2015 Aug 29 doi: 10.1093/eurheartj/ehv317. PMID: 26320113

Recent clinical studies

Etiology

Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Sepännen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
Faulhaber JR, Baffoe-Bonnie AW, Oursler KK, Vasudeva SS
Infect Dis Clin North Am 2023 Mar;37(1):153-173. doi: 10.1016/j.idc.2022.11.006. PMID: 36805011
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Ayano G, Demelash S, Abraha M, Tsegay L
AIDS Res Ther 2021 Apr 27;18(1):23. doi: 10.1186/s12981-021-00351-1. PMID: 33906698Free PMC Article
Deeks SG, Overbaugh J, Phillips A, Buchbinder S
Nat Rev Dis Primers 2015 Oct 1;1:15035. doi: 10.1038/nrdp.2015.35. PMID: 27188527

Diagnosis

Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Ayano G, Demelash S, Abraha M, Tsegay L
AIDS Res Ther 2021 Apr 27;18(1):23. doi: 10.1186/s12981-021-00351-1. PMID: 33906698Free PMC Article
LaFon DC, Nahm MH
J Immunol Methods 2018 Oct;461:37-43. Epub 2018 Aug 8 doi: 10.1016/j.jim.2018.08.002. PMID: 30098317Free PMC Article
Brooks JP, Ghaffari G
Allergy Asthma Proc 2016 Nov;37(6):501-504. doi: 10.2500/aap.2016.37.3992. PMID: 27931306
Freeman AF, Olivier KN
Clin Chest Med 2016 Sep;37(3):557-67. Epub 2016 Jun 10 doi: 10.1016/j.ccm.2016.04.016. PMID: 27514600Free PMC Article

Therapy

Pasqualotto AC, Lana DD, Godoy CSM, Leitão TDMJS, Bay MB, Damasceno LS, Soares RBA, Kist R, Silva LR, Wiltgen D, Melo M, Guimarães TF, Guimarães MR, Vechi HT, de Mesquita JRL, Monteiro GRG, Adenis A, Bahr NC, Spec A, Boulware DR, Israelski D, Chiller T, Falci DR
Clin Infect Dis 2023 Oct 13;77(8):1126-1132. doi: 10.1093/cid/ciad313. PMID: 37232940Free PMC Article
Ayano G, Demelash S, Abraha M, Tsegay L
AIDS Res Ther 2021 Apr 27;18(1):23. doi: 10.1186/s12981-021-00351-1. PMID: 33906698Free PMC Article
Deeks SG, Overbaugh J, Phillips A, Buchbinder S
Nat Rev Dis Primers 2015 Oct 1;1:15035. doi: 10.1038/nrdp.2015.35. PMID: 27188527
Anderson MS, Mackay F
Curr Opin Immunol 2015 Dec;37:v-vii. Epub 2015 Oct 25 doi: 10.1016/j.coi.2015.10.004. PMID: 26510378
Dinarello CA, Mier JW
Annu Rev Med 1986;37:173-8. doi: 10.1146/annurev.me.37.020186.001133. PMID: 3518604

Prognosis

Du M, Wang Y, Qin C, Mi D, Liu M, Liu J
AIDS 2023 Sep 1;37(11):1747-1756. Epub 2023 Jun 21 doi: 10.1097/QAD.0000000000003632. PMID: 37352496Free PMC Article
Weyenga H, Onyango E, Katana AK, Pathmanathan I, Sidibe K, Shah NS, Ngugi EW, Waruingi RN, Ng Ang A L, De Cock KM
Int J Tuberc Lung Dis 2022 Jul 1;26(7):623-628. doi: 10.5588/ijtld.21.0408. PMID: 35768918
Grabovac I, Veronese N, Stefanac S, Haider S, Jackson SE, Koyanagi A, Meilinger M, Stubbs B, Firth J, Soysal P, Di Gennaro F, Demurtas J, McDermott DT, Abbs AD, Yang L, Smith L
Clin Infect Dis 2020 Apr 15;70(9):1809-1815. doi: 10.1093/cid/ciz539. PMID: 31401650Free PMC Article
Wójtowicz A, Bochud PY
Semin Immunopathol 2015 Mar;37(2):173-86. Epub 2014 Nov 18 doi: 10.1007/s00281-014-0468-y. PMID: 25404122
Mathers CD, Loncar D
PLoS Med 2006 Nov;3(11):e442. doi: 10.1371/journal.pmed.0030442. PMID: 17132052Free PMC Article

Clinical prediction guides

Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Sepännen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
Rao VK, Kulm E, Šedivá A, Plebani A, Schuetz C, Shcherbina A, Dalm VA, Trizzino A, Zharankova Y, Webster S, Orpia A, Körholz J, Lougaris V, Rodina Y, Radford K, Bradt J, Relan A, Holland SM, Lenardo MJ, Uzel G
J Allergy Clin Immunol 2024 Jan;153(1):265-274.e9. Epub 2023 Oct 4 doi: 10.1016/j.jaci.2023.09.032. PMID: 37797893Free PMC Article
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Han H, Guo W, Guo H, Wei X, Xiao X, Ruan Y, Wu C, Cao Y, He J
Dig Dis Sci 2021 May;66(5):1683-1692. Epub 2020 May 28 doi: 10.1007/s10620-020-06355-7. PMID: 32468227
Wójtowicz A, Bochud PY
Semin Immunopathol 2015 Mar;37(2):173-86. Epub 2014 Nov 18 doi: 10.1007/s00281-014-0468-y. PMID: 25404122

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
Hoste L, Van Paemel R, Haerynck F
Eur J Pediatr 2021 Jul;180(7):2019-2034. Epub 2021 Feb 18 doi: 10.1007/s00431-021-03993-5. PMID: 33599835Free PMC Article
Peebles K, Velloza J, Balkus JE, McClelland RS, Barnabas RV
Sex Transm Dis 2019 May;46(5):304-311. doi: 10.1097/OLQ.0000000000000972. PMID: 30624309
Dimitrova A, Murchison C, Oken B
J Altern Complement Med 2017 Mar;23(3):164-179. Epub 2017 Jan 23 doi: 10.1089/acm.2016.0155. PMID: 28112552Free PMC Article
Liu AY, Nabel CS, Finkelman BS, Ruth JR, Kurzrock R, van Rhee F, Krymskaya VP, Kelleher D, Rubenstein AH, Fajgenbaum DC
Lancet Haematol 2016 Apr;3(4):e163-75. Epub 2016 Mar 17 doi: 10.1016/S2352-3026(16)00006-5. PMID: 27063975

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...