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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.
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 concentration
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.

Professional guidelines

PubMed

Tuddenham S, Hamill MM, Ghanem KG
JAMA 2022 Jan 11;327(2):161-172. doi: 10.1001/jama.2021.23487. PMID: 35015033
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
Tashima KT, Mitty JA
Curr HIV/AIDS Rep 2006 Jul;3(2):86-92. doi: 10.1007/s11904-006-0023-0. PMID: 16608665

Recent clinical studies

Etiology

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
Kimball J, Zhu Y, Wyatt D, Trabue CH, Talbot HK
J Infect Dis 2021 Jul 15;224(2):288-293. doi: 10.1093/infdis/jiaa757. PMID: 33340042
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
Shapiro RS
Am J Hematol 2011 Jan;86(1):48-55. doi: 10.1002/ajh.21903. PMID: 21120868
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

Barron K, Omiunu A, Celidonio J, Cruz-Mullane A, Din-Lovinescu C, Chemas-Velez MM, Baredes S, Eloy JA, Fang CH
Otolaryngol Head Neck Surg 2023 Mar;168(3):269-281. Epub 2023 Jan 24 doi: 10.1177/01945998221105059. PMID: 35671149
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
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
Gertner E, Thurn JR, Williams DN, Simpson M, Balfour HH Jr, Rhame F, Henry K
Am J Med 1989 Jun;86(6 Pt 2):814-8. doi: 10.1016/0002-9343(89)90478-6. PMID: 2729341
Charles MA, Schwarz MI
Postgrad Med 1973 Apr;53(4):86-92. doi: 10.1080/00325481.1973.11713420. PMID: 4632995

Therapy

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
Anderson PL, García-Lerma JG, Heneine W
Curr Opin HIV AIDS 2016 Jan;11(1):94-101. doi: 10.1097/COH.0000000000000213. PMID: 26633641Free PMC Article
Tabbara IA
South Med J 1993 Mar;86(3):350-5. doi: 10.1097/00007611-199303000-00020. PMID: 7680827
Gertner E, Thurn JR, Williams DN, Simpson M, Balfour HH Jr, Rhame F, Henry K
Am J Med 1989 Jun;86(6 Pt 2):814-8. doi: 10.1016/0002-9343(89)90478-6. PMID: 2729341
Charles MA, Schwarz MI
Postgrad Med 1973 Apr;53(4):86-92. doi: 10.1080/00325481.1973.11713420. PMID: 4632995

Prognosis

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
Nishiura H, Fujiwara S, Imamura A, Shirasaka T
Math Biosci Eng 2024 Feb 29;21(4):4874-4885. doi: 10.3934/mbe.2024215. PMID: 38872518
Cranston K, John B, Fukuda HD, Randall LM, Mermin J, Mayer KH, DeMaria A Jr
Am J Public Health 2017 May;107(5):794-799. doi: 10.2105/AJPH.2017.303697. PMID: 28398778Free PMC Article
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

Arora R, Sandhu N, Dokania P, Subramanian A
Ocul Immunol Inflamm 2022 Aug;30(6):1399-1407. Epub 2021 Apr 1 doi: 10.1080/09273948.2021.1881562. PMID: 33793390
Varricchi G, Pecoraro A, Crescenzi L, Marone G, Travaglino A, D'Armiento FP, Genovese A, Spadaro G
Curr Pharm Biotechnol 2018;19(9):734-741. doi: 10.2174/1389201019666181010170630. PMID: 30336770
Darragh TM, Tokugawa D, Castle PE, Follansbee S, Borgonovo S, LaMere BJ, Schwartz L, Gage JC, Fetterman B, Lorey T, Wentzensen N
Cancer Cytopathol 2013 Feb;121(2):72-8. Epub 2012 Jul 18 doi: 10.1002/cncy.21218. PMID: 22811048Free PMC Article
Islam FM, Wu J, Jansson J, Wilson DP
BMC Public Health 2012 Mar 23;12:234. doi: 10.1186/1471-2458-12-234. PMID: 22439731Free PMC Article
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

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
Barron K, Omiunu A, Celidonio J, Cruz-Mullane A, Din-Lovinescu C, Chemas-Velez MM, Baredes S, Eloy JA, Fang CH
Otolaryngol Head Neck Surg 2023 Mar;168(3):269-281. Epub 2023 Jan 24 doi: 10.1177/01945998221105059. PMID: 35671149
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
Gonzalez-Angulo Y, Wiysonge CS, Geldenhuys H, Hanekom W, Mahomed H, Hussey G, Hatherill M
Eur J Clin Microbiol Infect Dis 2012 Jul;31(7):1619-30. Epub 2011 Nov 18 doi: 10.1007/s10096-011-1485-6. PMID: 22095153
Nava-Aguilera E, Andersson N, Harris E, Mitchell S, Hamel C, Shea B, López-Vidal Y, Villegas-Arrizón A, Morales-Pérez A
Int J Tuberc Lung Dis 2009 Jan;13(1):17-26. PMID: 19105874

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