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Immunodeficiency 96(IMD96)

MedGen UID:
1810465
•Concept ID:
C5676930
•
Disease or Syndrome
Synonym: IMD96
 
Gene (location): LIG1 (19q13.33)
 
Monarch Initiative: MONDO:0030693
OMIM®: 619774

Definition

Immunodeficiency-96 (IMD96) is an autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair (summary by Maffucci et al., 2018). [from OMIM]

Clinical features

From HPO
Multicystic kidney dysplasia
MedGen UID:
811388
•Concept ID:
C3714581
•
Disease or Syndrome
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
See: Feature record | Search on this feature
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
See: Feature record | Search on this feature
Motor delay
MedGen UID:
381392
•Concept ID:
C1854301
•
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
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Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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Increased mean corpuscular volume
MedGen UID:
81303
•Concept ID:
C0302845
•
Finding
Larger than normal size of erythrocytes.
See: Feature record | Search on this feature
Recurrent lower respiratory tract infections
MedGen UID:
756211
•Concept ID:
C3163798
•
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
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Eczematoid dermatitis
MedGen UID:
3968
•Concept ID:
C0013595
•
Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
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Decreased circulating IgA concentration
MedGen UID:
57934
•Concept ID:
C0162538
•
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
See: Feature record | Search on this feature
Decreased circulating total IgM
MedGen UID:
116095
•Concept ID:
C0239989
•
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
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Recurrent infections
MedGen UID:
65998
•Concept ID:
C0239998
•
Finding
Increased susceptibility to infections.
See: Feature record | Search on this feature
Recurrent otitis media
MedGen UID:
155436
•Concept ID:
C0747085
•
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
See: Feature record | Search on this feature
Defective T cell proliferation
MedGen UID:
868165
•Concept ID:
C4022557
•
Cell or Molecular Dysfunction
A reduced ability of a T cell population to expand by cell division following T cell activation.
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
Increased proportion of gamma-delta T cells
MedGen UID:
1712401
•Concept ID:
C5398019
•
Finding
Increased proportion of gamma-delta T cells relative to the total number of T cells.
See: Feature record | Search on this feature
Conjunctival telangiectasia
MedGen UID:
66780
•Concept ID:
C0239105
•
Disease or Syndrome
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
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Professional guidelines

PubMed

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD
Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
Doravirine: its role in HIV treatment.
Stockdale AJ, Khoo S
Curr Opin HIV AIDS 2022 Jan 1;17(1):4-14. doi: 10.1097/COH.0000000000000709. PMID: 34740228
HIV treatment as prevention and HPTN 052.
Cohen MS, McCauley M, Gamble TR
Curr Opin HIV AIDS 2012 Mar;7(2):99-105. doi: 10.1097/COH.0b013e32834f5cf2. PMID: 22227585Free PMC Article

Recent clinical studies

Etiology

Cryptococcal Antigen in Serum and Cerebrospinal Fluid for Detecting Cryptococcal Meningitis in Adults Living With Human Immunodeficiency Virus: Systematic Review and Meta-Analysis of Diagnostic Test Accuracy Studies.
Temfack E, Rim JJB, Spijker R, Loyse A, Chiller T, Pappas PG, Perfect J, Sorell TC, Harrison TS, Cohen JF, Lortholary O
Clin Infect Dis 2021 Apr 8;72(7):1268-1278. doi: 10.1093/cid/ciaa1243. PMID: 32829406Free PMC Article
Type I interferon-mediated autoinflammation and autoimmunity.
Kretschmer S, Lee-Kirsch MA
Curr Opin Immunol 2017 Dec;49:96-102. Epub 2017 Nov 10 doi: 10.1016/j.coi.2017.09.003. PMID: 29128691
HIV-Associated Complications: A Systems-Based Approach.
Chu C, Pollock LC, Selwyn PA
Am Fam Physician 2017 Aug 1;96(3):161-169. PMID: 28762691
Nanomaterials and Optical Diagnosis of HIV.
Valizadeh A
Artif Cells Nanomed Biotechnol 2016 Sep;44(6):1383-90. Epub 2015 Jun 23 doi: 10.3109/21691401.2015.1052469. PMID: 26099718
Preventing HIV infection.
Coates TJ, Collins C
Sci Am 1998 Jul;279(1):96-7. doi: 10.1038/scientificamerican0798-96. PMID: 9648304

Diagnosis

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD
Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
Cryptococcal Antigen in Serum and Cerebrospinal Fluid for Detecting Cryptococcal Meningitis in Adults Living With Human Immunodeficiency Virus: Systematic Review and Meta-Analysis of Diagnostic Test Accuracy Studies.
Temfack E, Rim JJB, Spijker R, Loyse A, Chiller T, Pappas PG, Perfect J, Sorell TC, Harrison TS, Cohen JF, Lortholary O
Clin Infect Dis 2021 Apr 8;72(7):1268-1278. doi: 10.1093/cid/ciaa1243. PMID: 32829406Free PMC Article
Gender and ethnic differences in rates of immune reconstitution, AIDS diagnosis, and survival.
Nduaguba SO, Ford KH, Wilson JP, Lawson KA
AIDS Care 2021 Mar;33(3):285-289. Epub 2019 Dec 15 doi: 10.1080/09540121.2019.1703890. PMID: 31838894
HIV-Associated Complications: A Systems-Based Approach.
Chu C, Pollock LC, Selwyn PA
Am Fam Physician 2017 Aug 1;96(3):161-169. PMID: 28762691
Nanomaterials and Optical Diagnosis of HIV.
Valizadeh A
Artif Cells Nanomed Biotechnol 2016 Sep;44(6):1383-90. Epub 2015 Jun 23 doi: 10.3109/21691401.2015.1052469. PMID: 26099718

Therapy

The effectiveness of e-health on reducing stigma, improving social support and quality of life among people living with HIV: A systematic review and meta-analysis of randomized controlled trials.
Zhang L, Ni Z, Liu Y, Chen H
Int J Nurs Stud 2023 Dec;148:104606. Epub 2023 Sep 17 doi: 10.1016/j.ijnurstu.2023.104606. PMID: 37801937
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
Cryptococcal Antigen in Serum and Cerebrospinal Fluid for Detecting Cryptococcal Meningitis in Adults Living With Human Immunodeficiency Virus: Systematic Review and Meta-Analysis of Diagnostic Test Accuracy Studies.
Temfack E, Rim JJB, Spijker R, Loyse A, Chiller T, Pappas PG, Perfect J, Sorell TC, Harrison TS, Cohen JF, Lortholary O
Clin Infect Dis 2021 Apr 8;72(7):1268-1278. doi: 10.1093/cid/ciaa1243. PMID: 32829406Free PMC Article
School-based interventions for preventing HIV, sexually transmitted infections, and pregnancy in adolescents.
Mason-Jones AJ, Sinclair D, Mathews C, Kagee A, Hillman A, Lombard C
Cochrane Database Syst Rev 2016 Nov 8;11(11):CD006417. doi: 10.1002/14651858.CD006417.pub3. PMID: 27824221Free PMC Article
Antiretroviral Therapy for the Prevention of HIV-1 Transmission.
Cohen MS, Chen YQ, McCauley M, Gamble T, Hosseinipour MC, Kumarasamy N, Hakim JG, Kumwenda J, Grinsztejn B, Pilotto JH, Godbole SV, Chariyalertsak S, Santos BR, Mayer KH, Hoffman IF, Eshleman SH, Piwowar-Manning E, Cottle L, Zhang XC, Makhema J, Mills LA, Panchia R, Faesen S, Eron J, Gallant J, Havlir D, Swindells S, Elharrar V, Burns D, Taha TE, Nielsen-Saines K, Celentano DD, Essex M, Hudelson SE, Redd AD, Fleming TR; HPTN 052 Study Team
N Engl J Med 2016 Sep 1;375(9):830-9. Epub 2016 Jul 18 doi: 10.1056/NEJMoa1600693. PMID: 27424812Free PMC Article

Prognosis

Trends in Mortality in People With HIV From 1999 through 2020: A Multicohort Collaboration.
Tusch E, Ryom L, Pelchen-Matthews A, Mocroft A, Elbirt D, Oprea C, Günthard HF, Staehelin C, Zangerle R, Suarez I, Vehreschild JJ, Wit F, Menozzi M, d'Arminio Monforte A, Spagnuolo V, Pradier C, Carlander C, Suanzes P, Wasmuth JC, Carr A, Petoumenos K, Borgans F, Bonnet F, De Wit S, El-Sadr W, Neesgaard B, Jaschinski N, Greenberg L, Hosein SR, Gallant J, Vannappagari V, Young L, Sabin C, Lundgren J, Peters L, Reekie J; D:A:D cohort study; RESPOND cohort study
Clin Infect Dis 2024 Nov 22;79(5):1242-1257. doi: 10.1093/cid/ciae228. PMID: 38663013
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
Acute extensive myocardial calcification.
Glick Y, Dubin I, Schattner A
Postgrad Med J 2020 Nov;96(1141):719. Epub 2020 Jan 5 doi: 10.1136/postgradmedj-2019-137211. PMID: 31907226
Prevention of HIV Transmission and the HPTN 052 Study.
Cohen MS, Gamble T, McCauley M
Annu Rev Med 2020 Jan 27;71:347-360. Epub 2019 Oct 25 doi: 10.1146/annurev-med-110918-034551. PMID: 31652410
Antiretroviral Therapy for the Prevention of HIV-1 Transmission.
Cohen MS, Chen YQ, McCauley M, Gamble T, Hosseinipour MC, Kumarasamy N, Hakim JG, Kumwenda J, Grinsztejn B, Pilotto JH, Godbole SV, Chariyalertsak S, Santos BR, Mayer KH, Hoffman IF, Eshleman SH, Piwowar-Manning E, Cottle L, Zhang XC, Makhema J, Mills LA, Panchia R, Faesen S, Eron J, Gallant J, Havlir D, Swindells S, Elharrar V, Burns D, Taha TE, Nielsen-Saines K, Celentano DD, Essex M, Hudelson SE, Redd AD, Fleming TR; HPTN 052 Study Team
N Engl J Med 2016 Sep 1;375(9):830-9. Epub 2016 Jul 18 doi: 10.1056/NEJMoa1600693. PMID: 27424812Free PMC Article

Clinical prediction guides

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
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
Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades' Experience.
Benhsaien I, Ailal F, El Bakkouri J, Jeddane L, Ouair H, Admou B, Bouskraoui M, Hbibi M, Hida M, Amenzoui N, Jouhadi Z, El Hafidi N, Rada N, Benajiba N, Abilkassem R, Badou A, Bousfiha AA
J Clin Immunol 2021 Apr;41(3):631-638. Epub 2021 Jan 7 doi: 10.1007/s10875-020-00960-x. PMID: 33411152
Antiretroviral therapy for prevention of HIV transmission in HIV-discordant couples.
Anglemyer A, Rutherford GW, Horvath T, Baggaley RC, Egger M, Siegfried N
Cochrane Database Syst Rev 2013 Apr 30;2013(4):CD009153. doi: 10.1002/14651858.CD009153.pub3. PMID: 23633367Free PMC Article
Screening for HIV: systematic review to update the 2005 U.S. Preventive Services Task Force recommendation.
Chou R, Selph S, Dana T, Bougatsos C, Zakher B, Blazina I, Korthuis PT
Ann Intern Med 2012 Nov 20;157(10):706-18. doi: 10.7326/0003-4819-157-10-201211200-00007. PMID: 23165662

Recent systematic reviews

The effectiveness of e-health on reducing stigma, improving social support and quality of life among people living with HIV: A systematic review and meta-analysis of randomized controlled trials.
Zhang L, Ni Z, Liu Y, Chen H
Int J Nurs Stud 2023 Dec;148:104606. Epub 2023 Sep 17 doi: 10.1016/j.ijnurstu.2023.104606. PMID: 37801937
Safety and Efficacy of Long-Acting Injectable Agents for HIV-1: Systematic Review and Meta-Analysis.
Wang W, Zhao S, Wu Y, Duan W, Li S, Li Z, Guo C, Wang W, Zhang T, Wu H, Huang X
JMIR Public Health Surveill 2023 Jul 27;9:e46767. doi: 10.2196/46767. PMID: 37498645Free PMC Article
Treatment-related adverse events of antibody-drug conjugates in clinical trials: A systematic review and meta-analysis.
Zhu Y, Liu K, Wang K, Zhu H
Cancer 2023 Jan 15;129(2):283-295. Epub 2022 Nov 21 doi: 10.1002/cncr.34507. PMID: 36408673Free PMC Article
Non-invasive diagnosis of Pneumocystis jirovecii pneumonia: a systematic review and meta-analysis.
Senécal J, Smyth E, Del Corpo O, Hsu JM, Amar-Zifkin A, Bergeron A, Cheng MP, Butler-Laporte G, McDonald EG, Lee TC
Clin Microbiol Infect 2022 Jan;28(1):23-30. Epub 2021 Aug 28 doi: 10.1016/j.cmi.2021.08.017. PMID: 34464734
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

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    • ClinVar
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      Clinical tests in GTR
    • OMIM
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    • OMIM(Genes)
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