U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Immunodeficiency 86(IMD86)

MedGen UID:
1794205
Concept ID:
C5561995
Disease or Syndrome
Synonyms: IMD86; Immunodeficiency 86, mycobacteriosis; Immunodeficiency 86, mycobacteriosis, autosomal recessive
 
Gene (location): SPPL2A (15q21.2)
 
Monarch Initiative: MONDO:0030448
OMIM®: 619549

Definition

Immunodeficiency-86 (IMD86) is an autosomal recessive immunologic disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Affected individuals usually develop localized mycobacterial lymphadenopathy that can be successfully treated without subsequent episodes (summary by Kong et al., 2018). [from OMIM]

Clinical features

From HPO
Increased circulating IgM level
MedGen UID:
333454
Concept ID:
C1839972
Finding
An abnormally increased level of immunoglobulin M in blood.
Impaired oxidative burst
MedGen UID:
898272
Concept ID:
C4280805
Laboratory or Test Result
In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.
BCGitis
MedGen UID:
1684722
Concept ID:
C5139070
Disease or Syndrome
Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.
Decreased circulating IgG level
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.

Professional guidelines

PubMed

Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA
J Eur Acad Dermatol Venereol 2022 Jul;36(7):973-986. Epub 2022 Mar 15 doi: 10.1111/jdv.18043. PMID: 35238435Free PMC Article
Tuddenham S, Hamill MM, Ghanem KG
JAMA 2022 Jan 11;327(2):161-172. doi: 10.1001/jama.2021.23487. PMID: 35015033
King JR, Hammarström L
J Clin Immunol 2018 Jan;38(1):56-66. Epub 2017 Nov 8 doi: 10.1007/s10875-017-0455-x. PMID: 29116556Free PMC Article

Recent clinical studies

Etiology

Borte M, Hanitsch LG, Mahlaoui N, Fasshauer M, Huscher D, Speletas M, Dimou M, Kamieniak M, Hermann C, Pittrow D, Milito C
J Clin Immunol 2023 Aug;43(6):1259-1271. Epub 2023 Apr 10 doi: 10.1007/s10875-023-01470-2. PMID: 37036560Free PMC Article
Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA
J Eur Acad Dermatol Venereol 2022 Jul;36(7):973-986. Epub 2022 Mar 15 doi: 10.1111/jdv.18043. PMID: 35238435Free PMC Article
Dimitrova D, Nademi Z, Maccari ME, Ehl S, Uzel G, Tomoda T, Okano T, Imai K, Carpenter B, Ip W, Rao K, Worth AJJ, Laberko A, Mukhina A, Néven B, Moshous D, Speckmann C, Warnatz K, Wehr C, Abolhassani H, Aghamohammadi A, Bleesing JJ, Dara J, Dvorak CC, Ghosh S, Kang HJ, Markelj G, Modi A, Bayer DK, Notarangelo LD, Schulz A, Garcia-Prat M, Soler-Palacín P, Karakükcü M, Yilmaz E, Gambineri E, Menconi M, Masmas TN, Holm M, Bonfim C, Prando C, Hughes S, Jolles S, Morris EC, Kapoor N, Koltan S, Paneesha S, Steward C, Wynn R, Duffner U, Gennery AR, Lankester AC, Slatter M, Kanakry JA
J Allergy Clin Immunol 2022 Jan;149(1):410-421.e7. Epub 2021 May 24 doi: 10.1016/j.jaci.2021.04.036. PMID: 34033842Free PMC Article
King JR, Hammarström L
J Clin Immunol 2018 Jan;38(1):56-66. Epub 2017 Nov 8 doi: 10.1007/s10875-017-0455-x. PMID: 29116556Free PMC Article
Duesberg PH
Proc Natl Acad Sci U S A 1989 Feb;86(3):755-64. doi: 10.1073/pnas.86.3.755. PMID: 2644642Free PMC Article

Diagnosis

Nishimura A, Uppuluri R, Raj R, Swaminathan VV, Cheng Y, Abu-Arja RF, Fu B, Laberko A, Albert MH, Hauck F, Bucciol G, Bigley V, Elcombe S, Kharya G, Pronk CJH, Wehr C, Neven B, Warnatz K, Meyts I, Morio T, Gennery AR, Kanegane H
J Clin Immunol 2023 Nov;43(8):1827-1839. Epub 2023 Jul 16 doi: 10.1007/s10875-023-01551-2. PMID: 37454339
Borte M, Hanitsch LG, Mahlaoui N, Fasshauer M, Huscher D, Speletas M, Dimou M, Kamieniak M, Hermann C, Pittrow D, Milito C
J Clin Immunol 2023 Aug;43(6):1259-1271. Epub 2023 Apr 10 doi: 10.1007/s10875-023-01470-2. PMID: 37036560Free PMC Article
Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA
J Eur Acad Dermatol Venereol 2022 Jul;36(7):973-986. Epub 2022 Mar 15 doi: 10.1111/jdv.18043. PMID: 35238435Free PMC Article
King JR, Hammarström L
J Clin Immunol 2018 Jan;38(1):56-66. Epub 2017 Nov 8 doi: 10.1007/s10875-017-0455-x. PMID: 29116556Free PMC Article
Sampaio AL, Mameri AC, Vargas TJ, Ramos-e-Silva M, Nunes AP, Carneiro SC
An Bras Dermatol 2011 Nov-Dec;86(6):1061-71; quiz 1072-4. doi: 10.1590/s0365-05962011000600002. PMID: 22281892

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
Borte M, Hanitsch LG, Mahlaoui N, Fasshauer M, Huscher D, Speletas M, Dimou M, Kamieniak M, Hermann C, Pittrow D, Milito C
J Clin Immunol 2023 Aug;43(6):1259-1271. Epub 2023 Apr 10 doi: 10.1007/s10875-023-01470-2. PMID: 37036560Free PMC Article
Craig TJ, Reshef A, Li HH, Jacobs JS, Bernstein JA, Farkas H, Yang WH, Stroes ESG, Ohsawa I, Tachdjian R, Manning ME, Lumry WR, Saguer IM, Aygören-Pürsün E, Ritchie B, Sussman GL, Anderson J, Kawahata K, Suzuki Y, Staubach P, Treudler R, Feuersenger H, Glassman F, Jacobs I, Magerl M
Lancet 2023 Apr 1;401(10382):1079-1090. Epub 2023 Feb 28 doi: 10.1016/S0140-6736(23)00350-1. PMID: 36868261
Dimitrova D, Nademi Z, Maccari ME, Ehl S, Uzel G, Tomoda T, Okano T, Imai K, Carpenter B, Ip W, Rao K, Worth AJJ, Laberko A, Mukhina A, Néven B, Moshous D, Speckmann C, Warnatz K, Wehr C, Abolhassani H, Aghamohammadi A, Bleesing JJ, Dara J, Dvorak CC, Ghosh S, Kang HJ, Markelj G, Modi A, Bayer DK, Notarangelo LD, Schulz A, Garcia-Prat M, Soler-Palacín P, Karakükcü M, Yilmaz E, Gambineri E, Menconi M, Masmas TN, Holm M, Bonfim C, Prando C, Hughes S, Jolles S, Morris EC, Kapoor N, Koltan S, Paneesha S, Steward C, Wynn R, Duffner U, Gennery AR, Lankester AC, Slatter M, Kanakry JA
J Allergy Clin Immunol 2022 Jan;149(1):410-421.e7. Epub 2021 May 24 doi: 10.1016/j.jaci.2021.04.036. PMID: 34033842Free PMC Article
Powderly WG
Mo Med 1989 Nov;86(11):741-3. PMID: 2682195

Prognosis

Bassat Q, Blau DM, Ogbuanu IU, Samura S, Kaluma E, Bassey IA, Sow S, Keita AM, Tapia MD, Mehta A, Kotloff KL, Rahman A, Islam KM, Alam M, El Arifeen S, Gurley ES, Baillie V, Mutevedzi P, Mahtab S, Thwala BN, Tippett Barr BA, Onyango D, Akelo V, Rogena E, Onyango P, Omore R, Mandomando I, Ajanovic S, Varo R, Sitoe A, Duran-Frigola M, Assefa N, Scott JAG, Madrid L, Tesfaye T, Dessie Y, Madewell ZJ, Breiman RF, Whitney CG, Madhi SA; Child Health and Mortality Prevention Surveillance (CHAMPS) Network
JAMA Netw Open 2023 Jul 3;6(7):e2322494. doi: 10.1001/jamanetworkopen.2023.22494. PMID: 37494044Free PMC Article
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
Szmulik-Misiurek K, Niedźwiedzka-Stadnik M, Rosińska M
Przegl Epidemiol 2020;74(2):223-238. doi: 10.32394/pe.74.18. PMID: 33112106
Del Rio C
Top Antivir Med 2016 Jul/Aug;24(2):86-89. PMID: 27841977Free PMC Article
Poorolajal J, Hooshmand E, Mahjub H, Esmailnasab N, Jenabi E
Public Health 2016 Oct;139:3-12. Epub 2016 Jun 24 doi: 10.1016/j.puhe.2016.05.004. PMID: 27349729

Clinical prediction guides

Zhao Q, Li NN, Chen YX, Zhao XY
Front Cell Infect Microbiol 2023;13:1107237. Epub 2023 May 26 doi: 10.3389/fcimb.2023.1107237. PMID: 37305416Free PMC Article
Borte M, Hanitsch LG, Mahlaoui N, Fasshauer M, Huscher D, Speletas M, Dimou M, Kamieniak M, Hermann C, Pittrow D, Milito C
J Clin Immunol 2023 Aug;43(6):1259-1271. Epub 2023 Apr 10 doi: 10.1007/s10875-023-01470-2. PMID: 37036560Free PMC Article
Soares C, Kwok M, Boucher KA, Haji M, Echouffo-Tcheugui JB, Longenecker CT, Bloomfield GS, Ross D, Jutkowtiz E, Sullivan JL, Rudolph JL, Wu WC, Erqou S
JAMA Cardiol 2023 Feb 1;8(2):139-149. doi: 10.1001/jamacardio.2022.4873. PMID: 36576812Free PMC Article
Alao MA, Ibrahim OR, Chan YH
Niger J Clin Pract 2022 Jan;25(1):105-109. doi: 10.4103/njcp.njcp_466_20. PMID: 35046203
Song W, Shen YZ, Wang ZY, Qi TK, Liu L, Zhang RF, Wang JR, Tang Y, Chen J, Sun JJ, Lu HZ
Chin Med J (Engl) 2020 Dec 5;133(23):2787-2795. doi: 10.1097/CM9.0000000000001191. PMID: 33273326Free PMC Article

Recent systematic reviews

Peer N, Nguyen KA, Hill J, Sumner AE, Cikomola JC, Nachega JB, Kengne AP
J Int AIDS Soc 2023 Mar;26(3):e26059. doi: 10.1002/jia2.26059. PMID: 36924213Free PMC Article
Wu S, Wang J, Guo Q, Lan H, Sun Y, Ren M, Liu Y, Wang P, Wang L, Su R, Zhang J, Chen Y, Li G
Clin Microbiol Infect 2023 Aug;29(8):1000-1007. Epub 2023 Mar 13 doi: 10.1016/j.cmi.2023.03.002. PMID: 36921717
Sultana ZZ, Hoque FU, Beyene J, Akhlak-Ul-Islam M, Khan MHR, Ahmed S, Hawlader DH, Hossain A
BMC Infect Dis 2021 Jan 11;21(1):51. doi: 10.1186/s12879-020-05749-2. PMID: 33430786Free PMC Article
Del Corpo O, Butler-Laporte G, Sheppard DC, Cheng MP, McDonald EG, Lee TC
Clin Microbiol Infect 2020 Sep;26(9):1137-1143. Epub 2020 May 30 doi: 10.1016/j.cmi.2020.05.024. PMID: 32479781
Müller M, Wandel S, Colebunders R, Attia S, Furrer H, Egger M; IeDEA Southern and Central Africa
Lancet Infect Dis 2010 Apr;10(4):251-61. doi: 10.1016/S1473-3099(10)70026-8. PMID: 20334848Free 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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...