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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.
See: Feature record | Search on this feature
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.
See: Search on this feature
BCGitis
MedGen UID:
1684722
•Concept ID:
C5139070
•
Disease or Syndrome
Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.
See: Feature record | Search on this feature
Decreased circulating IgG concentration
MedGen UID:
1720114
•Concept ID:
C5234937
•
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation.
Böhm S, Wustrau K, Pachlopnik Schmid J, Prader S, Ahlmann M, Yacobovich J, Beier R, Speckmann C, Behnisch W, Ifversen M, Jordan M, Marsh R, Naumann-Bartsch N, Mauz-Körholz C, Hönig M, Schulz A, Malinowska I, Hines M, Nichols KE, Gil-Herrera J, Talano JA, Crooks B, Formankova R, Jorch N, Bakhtiar S, Kühnle I, Streiter M, Nathrath M, Russo A, Dürken M, Lang P, Lindemans C, Henter JI, Lehmberg K, Ehl S
Blood 2024 Mar 7;143(10):872-881. doi: 10.1182/blood.2023022281. PMID: 37992218
Diagnosis and Treatment of Sexually Transmitted Infections: A Review.
Tuddenham S, Hamill MM, Ghanem KG
JAMA 2022 Jan 11;327(2):161-172. doi: 10.1001/jama.2021.23487. PMID: 35015033
Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.
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

Cellular immune response to SARS-CoV-2 in patients with primary antibody deficiencies.
Mizera D, Dziedzic R, Drynda A, Gradzikiewicz A, Jakieła B, Celińska-Löwenhoff M, Padjas A, Matyja-Bednarczyk A, Zaręba L, Bazan-Socha S
Front Immunol 2023;14:1275892. Epub 2023 Oct 12 doi: 10.3389/fimmu.2023.1275892. PMID: 37901210Free PMC Article
Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.
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
Survival rate of AIDS disease and mortality in HIV-infected patients: a meta-analysis.
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
Preoperative alcoholism and postoperative morbidity.
Tonnesen H, Kehlet H
Br J Surg 1999 Jul;86(7):869-74. doi: 10.1046/j.1365-2168.1999.01181.x. PMID: 10417555
Human immunodeficiency virus and acquired immunodeficiency syndrome: correlation but not causation.
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

An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.
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
Survival rate of AIDS disease and mortality in HIV-infected patients: a meta-analysis.
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
Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.
Fang M, Abolhassani H, Lim CK, Zhang J, Hammarström L
J Clin Immunol 2016 May;36 Suppl 1:68-75. Epub 2016 Mar 18 doi: 10.1007/s10875-016-0260-y. PMID: 26993986
Seborrheic dermatitis.
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
Pneumocystis carinii pneumonia.
Charles MA, Schwarz MI
Postgrad Med 1973 Apr;53(4):86-92. doi: 10.1080/00325481.1973.11713420. PMID: 4632995

Therapy

Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention (VANGUARD): a global, multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
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
New choices for treatment with subcutaneous immunoglobulins.
Pleguezuelo DE, Sánchez-Ramón S
Med Clin (Barc) 2017 Jan 20;148(2):86-90. Epub 2016 Dec 2 doi: 10.1016/j.medcli.2016.09.037. PMID: 27919413
Survival rate of AIDS disease and mortality in HIV-infected patients: a meta-analysis.
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
Granulocyte colony-stimulating factor.
Tabbara IA
South Med J 1993 Mar;86(3):350-5. doi: 10.1097/00007611-199303000-00020. PMID: 7680827
Pneumocystis carinii pneumonia.
Charles MA, Schwarz MI
Postgrad Med 1973 Apr;53(4):86-92. doi: 10.1080/00325481.1973.11713420. PMID: 4632995

Prognosis

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH
Blood 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. PMID: 38579284
Longitudinal trends in causes of death among adults with HIV on antiretroviral therapy in Europe and North America from 1996 to 2020: a collaboration of cohort studies.
Trickey A, McGinnis K, Gill MJ, Abgrall S, Berenguer J, Wyen C, Hessamfar M, Reiss P, Kusejko K, Silverberg MJ, Imaz A, Teira R, d'Arminio Monforte A, Zangerle R, Guest JL, Papastamopoulos V, Crane H, Sterling TR, Grabar S, Ingle SM, Sterne JAC
Lancet HIV 2024 Mar;11(3):e176-e185. Epub 2024 Jan 24 doi: 10.1016/S2352-3018(23)00272-2. PMID: 38280393
Causes of Death Among Infants and Children in the Child Health and Mortality Prevention Surveillance (CHAMPS) Network.
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
HIV Infection in Hard-to-Reach Populations.
Del Rio C
Top Antivir Med 2016 Jul/Aug;24(2):86-89. PMID: 27841977Free PMC Article
Survival rate of AIDS disease and mortality in HIV-infected patients: a meta-analysis.
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

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH
Blood 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. PMID: 38579284
Clinical features of Cytomegalovirus retinitis in patients with acquired immunodeficiency syndrome and efficacy of the current therapy.
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
Facilitated Subcutaneous Immunoglobulin Treatment in Patients with Immunodeficiencies: the FIGARO Study.
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
Performance of Cardiovascular Risk Prediction Models Among People Living With HIV: A Systematic Review and Meta-analysis.
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
Clinical features and treatment outcomes of human immunodeficiency virus-associated cryptococcal meningitis: a 2-year retrospective analysis.
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

Prevalence of human immunodeficiency virus, syphilis, and hepatitis B and C virus infections in pregnant women: a systematic review and meta-analysis.
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
HIV infection and multidrug resistant tuberculosis: a systematic review and meta-analysis.
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
Diagnostic accuracy of serum (1-3)-β-D-glucan for Pneumocystis jirovecii pneumonia: a systematic review and meta-analysis.
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
Systematic review and meta-analysis of cannabinoids in palliative medicine.
Mücke M, Weier M, Carter C, Copeland J, Degenhardt L, Cuhls H, Radbruch L, Häuser W, Conrad R
J Cachexia Sarcopenia Muscle 2018 Apr;9(2):220-234. Epub 2018 Feb 5 doi: 10.1002/jcsm.12273. PMID: 29400010Free PMC Article
Immune reconstitution inflammatory syndrome in patients starting antiretroviral therapy for HIV infection: a systematic review and meta-analysis.
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

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    • ClinVar
      Related medical variations
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      Related information in NCBI Gene
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      Related records in OMIM
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