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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

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
HIV/AIDS prevention and treatment.
Goemaere E, Ford N, Benatar SR
Lancet 2002 Jul 6;360(9326):86-7; author reply 87-8. doi: 10.1016/S0140-6736(02)09343-1. PMID: 12114064
HIV/AIDS prevention and treatment.
Piot P, Zewdie D, Türmen T
Lancet 2002 Jul 6;360(9326):86; author reply 87-8. doi: 10.1016/S0140-6736(02)09342-X. PMID: 12114063

Recent clinical studies

Etiology

Effectiveness of eHealth Interventions for HIV Prevention and Management in Sub-Saharan Africa: Systematic Review and Meta-analyses.
Manby L, Aicken C, Delgrange M, Bailey JV
AIDS Behav 2022 Feb;26(2):457-469. Epub 2021 Aug 24 doi: 10.1007/s10461-021-03402-w. PMID: 34427813Free 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
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
Malignancies in the setting of primary immunodeficiency: Implications for hematologists/oncologists.
Shapiro RS
Am J Hematol 2011 Jan;86(1):48-55. doi: 10.1002/ajh.21903. PMID: 21120868
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

Diagnosis

A HIV diagnosis and treatment cascade for Aboriginal and Torres Strait Islander peoples of Australia.
Stephens JH, Gray RT, Guy R, Vickers T, Ward J
AIDS Care 2023 Jan;35(1):83-90. Epub 2021 Nov 16 doi: 10.1080/09540121.2021.2001416. PMID: 34783623
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

Cancer in people with multidrug-resistant HIV.
Clemente T, Pontillo D, Malagnino V, Calza L, Di Biagio A, Cenderello G, Lolatto R, Manzillo E, Moioli MC, De Socio GV, Castagna A, Spagnuolo V; PRESTIGIO Study Group
AIDS 2024 Oct 1;38(12):1801-1806. Epub 2024 Aug 29 doi: 10.1097/QAD.0000000000003952. PMID: 39206886
Universal test and treat in Cameroon: a comparative retrospective analysis of mortality and loss to follow-up before and after a strategic change in approach to HIV care.
Bekolo CE, Ndeso SA, Moifo LL, Mangala N, Yimdjo TD, Ateudjieu J, Kouanfack C, Djam A, Tabah EN, Whegang S, Mapa-Tassou C, Tendongfor N, Nsagha DS, Choukem SP
Pan Afr Med J 2023;45:191. Epub 2023 Aug 31 doi: 10.11604/pamj.2023.45.191.40448. PMID: 38020352Free PMC Article
Herpes zoster associated with stroke incidence in people living with human immunodeficiency virus: a nested case-control study.
Ku HC, Wu YL, Yip HT, Hsieh CY, Li CY, Ou HT, Chen YC, Ko NY
BMC Infect Dis 2023 Sep 28;23(1):636. doi: 10.1186/s12879-023-08628-8. PMID: 37770849Free PMC Article
Staged HIV transmission and treatment in a dynamic model with long-term partnerships.
Gurski K, Hoffman K
J Math Biol 2023 Apr 13;86(5):74. doi: 10.1007/s00285-023-01885-w. PMID: 37052718Free 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

Estimation of Improvements in Mortality in Spectrum Among Adults With HIV Receiving Antiretroviral Therapy in High-Income Countries.
Trickey A, Glaubius R, Pantazis N, Zangerle R, Wittkop L, Vehreschild J, Grabar S, Cavassini M, Teira R, d'Arminio Monforte A, Casabona J, van Sighem A, Jarrin I, Ingle SM, Sterne JAC, Imai-Eaton JW, Johnson LF
J Acquir Immune Defic Syndr 2024 Jan 1;95(1S):e89-e96. Epub 2024 Jan 4 doi: 10.1097/QAI.0000000000003326. PMID: 38180742Free PMC Article
Examining pharmacies' ability to increase pre-exposure prophylaxis access for black men who have sex with men in the United States.
Alohan DI, Evans G, Sanchez T, Harrington KRV, Quamina A, Young HN, Crawford ND
J Am Pharm Assoc (2003) 2023 Mar-Apr;63(2):547-554. Epub 2022 Nov 13 doi: 10.1016/j.japh.2022.11.004. PMID: 36470733Free PMC Article
Prevalence of Good Condom Usage and Its Association with Condom Use Self-Efficacy among Youth Attending HIV/STDs Clinics in Primary-Care Settings in Malaysia.
Hamid NC, Malek KA, Mat-Nasir N, Mohamad M, Nasir NM
Int J Environ Res Public Health 2022 Sep 26;19(19) doi: 10.3390/ijerph191912179. PMID: 36231478Free PMC Article
High proportion of HIV serodiscordance among HIV-affected married couples in northern Vietnam.
Sawada I, Tanuma J, Do CD, Doan TT, Luu QP, Nguyen LA, Vu TV, Nguyen TQ, Tsuchiya N, Shiino T, Yoshida LM, Pham TT, Ariyoshi K, Oka S
PLoS One 2015;10(4):e0125299. Epub 2015 Apr 21 doi: 10.1371/journal.pone.0125299. PMID: 25898138Free PMC Article
HIV prevention research for men who have sex with men: a systematic review and meta-analysis.
Johnson WD, Hedges LV, Ramirez G, Semaan S, Norman LR, Sogolow E, Sweat MD, Diaz RM
J Acquir Immune Defic Syndr 2002 Jul 1;30 Suppl 1:S118-29. PMID: 12107365

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
Effects of Vitamin D Supplementation on Bone Health and Bone-related Parameters in HIV-infected Patients: A Systematic Review and Meta-analysis.
Rezamand G, Estêvão MD, Morvaridzadeh M, Akbari A, Tabaeian SP, Pizarro AB, Malekahmadi M, Hasani M, Roffey DM, Mirzaei A, Heshmati J
Clin Ther 2022 Feb;44(2):e11-25.e8. Epub 2022 Mar 5 doi: 10.1016/j.clinthera.2021.12.012. PMID: 35256212
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
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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      Related information in NCBI Gene
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