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Immunodeficiency 84(IMD84)

MedGen UID:
1794150
•Concept ID:
C5561940
•
Disease or Syndrome
Synonyms: IMD84; IMMUNODEFICIENCY 84
 
Gene (location): IKZF3 (17q12-21.1)
 
Monarch Initiative: MONDO:0030333
OMIM®: 619437

Definition

Immunodeficiency-84 (IMD84) is an autosomal dominant primary immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. There may also be variable T-cell abnormalities. Patients with IMD84 have increased susceptibility to infection with Epstein-Barr virus (EBV) and may develop lymphoma in adulthood (summary by Yamashita et al., 2021). [from OMIM]

Clinical features

From HPO
B-cell lymphoma
MedGen UID:
86953
•Concept ID:
C0079731
•
Neoplastic Process
A type of lymphoma that originates in B-cells.
See: Feature record | Search on this feature
Perianal abscess
MedGen UID:
14677
•Concept ID:
C0031019
•
Disease or Syndrome
The presence of an abscess located around the anus.
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Recurrent bacterial infections
MedGen UID:
334943
•Concept ID:
C1844383
•
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
See: Feature record | Search on this feature
B lymphocytopenia
MedGen UID:
340780
•Concept ID:
C1855067
•
Finding
An abnormal decrease from the normal count of B cells.
See: Feature record | Search on this feature
Persistent EBV viremia
MedGen UID:
767466
•Concept ID:
C3554552
•
Finding
Persistent presence of Epstein-Barr virus in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Newborn screening for severe combined immunodeficiency: changing the landscape of post-transplantation survival.
Barzaghi F, Aiuti A
Lancet 2023 Jul 8;402(10396):84-85. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)01057-7. PMID: 37352884
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B
J Allergy Clin Immunol 2018 Dec;142(6):1932-1946. Epub 2018 May 4 doi: 10.1016/j.jaci.2018.02.055. PMID: 29729943Free PMC Article
NeuroAIDS: diagnosis and management.
McArthur JC
Hosp Pract (1995) 1997 Aug 15;32(8):73-4, 77-9, 84 passim. doi: 10.1080/21548331.1997.11443542. PMID: 9275962

Recent clinical studies

Etiology

Trends in HIV post-exposure prophylaxis following sexual exposure in Brazil (2011-2019).
Crepalde-Ribeiro K, de Oliveira Costa J, Pearson SA, Silveira MR, Mendes JC, Dos Santos SF, Cruz MA, Braga MDG
AIDS Behav 2022 Dec;26(12):4115-4125. Epub 2022 Jul 16 doi: 10.1007/s10461-022-03737-y. PMID: 35841464
Efficacy and Safety of Subcutaneous Belimumab in Systemic Lupus Erythematosus: A Fifty-Two-Week Randomized, Double-Blind, Placebo-Controlled Study.
Stohl W, Schwarting A, Okada M, Scheinberg M, Doria A, Hammer AE, Kleoudis C, Groark J, Bass D, Fox NL, Roth D, Gordon D
Arthritis Rheumatol 2017 May;69(5):1016-1027. Epub 2017 Apr 7 doi: 10.1002/art.40049. PMID: 28118533Free PMC Article
AIDS denial in Asia: dimensions and roots.
Nepal B
Health Policy 2007 Dec;84(2-3):133-41. Epub 2007 Jun 4 doi: 10.1016/j.healthpol.2007.04.011. PMID: 17548124Free PMC Article
Increased mortality in cartilage-hair hypoplasia.
Mäkitie O, Pukkala E, Kaitila I
Arch Dis Child 2001 Jan;84(1):65-67. doi: 10.1136/adc.84.1.65. PMID: 11124791Free PMC Article
AIDS in Brazil.
Addiction 1995 Feb;90(2):296-7. PMID: 7703827

Diagnosis

Chronic Granulomatous Disease: a Comprehensive Review.
Yu HH, Yang YH, Chiang BL
Clin Rev Allergy Immunol 2021 Oct;61(2):101-113. doi: 10.1007/s12016-020-08800-x. PMID: 32524254
HIV/AIDS Review.
Moss JA
Radiol Technol 2013 Jan-Feb;84(3):247-67; quiz p.268-70. PMID: 23322863
Personalized therapeutics: HIV treatment in adolescents.
Rakhmanina NY, Capparelli EV, van den Anker JN
Clin Pharmacol Ther 2008 Dec;84(6):734-40. Epub 2008 Oct 1 doi: 10.1038/clpt.2008.187. PMID: 18830226Free PMC Article
Severe combined immunodeficiency--molecular pathogenesis and diagnosis.
Gaspar HB, Gilmour KC, Jones AM
Arch Dis Child 2001 Feb;84(2):169-73. doi: 10.1136/adc.84.2.169. PMID: 11159300Free PMC Article
NeuroAIDS: diagnosis and management.
McArthur JC
Hosp Pract (1995) 1997 Aug 15;32(8):73-4, 77-9, 84 passim. doi: 10.1080/21548331.1997.11443542. PMID: 9275962

Therapy

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
Predictors of cure among HIV co-infected multidrug-resistant TB patients at Sizwe Tropical Disease Hospital Johannesburg, South Africa.
Umanah TA, Ncayiyana JR, Nyasulu PS
Trans R Soc Trop Med Hyg 2015 May;109(5):340-8. Epub 2015 Mar 18 doi: 10.1093/trstmh/trv025. PMID: 25787727
Rilpivirine.
Sanford M
Drugs 2012 Mar 5;72(4):525-41. doi: 10.2165/11208590-000000000-00000. PMID: 22356290
Personalized therapeutics: HIV treatment in adolescents.
Rakhmanina NY, Capparelli EV, van den Anker JN
Clin Pharmacol Ther 2008 Dec;84(6):734-40. Epub 2008 Oct 1 doi: 10.1038/clpt.2008.187. PMID: 18830226Free PMC Article
NeuroAIDS: diagnosis and management.
McArthur JC
Hosp Pract (1995) 1997 Aug 15;32(8):73-4, 77-9, 84 passim. doi: 10.1080/21548331.1997.11443542. PMID: 9275962

Prognosis

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
Reinfection rate of hepatitis C in HIV-1 positive men who have sex with men: A systematic review and meta-analysis.
Wan Z, Sun P, Dzakah EE, Huang L, Shuai P, Liu Y
Front Public Health 2022;10:855989. Epub 2022 Jul 29 doi: 10.3389/fpubh.2022.855989. PMID: 35968434Free PMC Article
SARS-CoV-2 incidence, testing rates, and severe COVID-19 outcomes among people with and without HIV.
Spinelli MA, Brown LB, Glidden DV, Hunter K, Martin-Tuite P, Zheng J, Sera C, Havlir D, Buchbinder SP, Gandhi M
AIDS 2021 Dec 1;35(15):2545-2547. doi: 10.1097/QAD.0000000000003075. PMID: 34870933Free PMC Article
Increased mortality in cartilage-hair hypoplasia.
Mäkitie O, Pukkala E, Kaitila I
Arch Dis Child 2001 Jan;84(1):65-67. doi: 10.1136/adc.84.1.65. PMID: 11124791Free PMC Article
Use of the ganciclovir implant in the treatment of recurrent cytomegalovirus retinitis.
Marx JL, Kapusta MA, Patel SS, LaBree LD, Walonker F, Rao NA, Chong LP
Arch Ophthalmol 1996 Jul;114(7):815-20. doi: 10.1001/archopht.1996.01100140029003. PMID: 8660164

Clinical prediction guides

Trends in HIV post-exposure prophylaxis following sexual exposure in Brazil (2011-2019).
Crepalde-Ribeiro K, de Oliveira Costa J, Pearson SA, Silveira MR, Mendes JC, Dos Santos SF, Cruz MA, Braga MDG
AIDS Behav 2022 Dec;26(12):4115-4125. Epub 2022 Jul 16 doi: 10.1007/s10461-022-03737-y. PMID: 35841464
Community-Based HIV Testing for Urban Youth in Western Kenya.
Truong HM, Guzé MA, Ouma D, Bushman D, Mocello AR, Kadede K, Bukusi EA, Odhiambo F, Cohen CR
AIDS Behav 2022 Mar;26(3):814-821. Epub 2021 Sep 14 doi: 10.1007/s10461-021-03441-3. PMID: 34518938Free PMC Article
Efficacy and Safety of Subcutaneous Belimumab in Systemic Lupus Erythematosus: A Fifty-Two-Week Randomized, Double-Blind, Placebo-Controlled Study.
Stohl W, Schwarting A, Okada M, Scheinberg M, Doria A, Hammer AE, Kleoudis C, Groark J, Bass D, Fox NL, Roth D, Gordon D
Arthritis Rheumatol 2017 May;69(5):1016-1027. Epub 2017 Apr 7 doi: 10.1002/art.40049. PMID: 28118533Free PMC Article
Predictors of cure among HIV co-infected multidrug-resistant TB patients at Sizwe Tropical Disease Hospital Johannesburg, South Africa.
Umanah TA, Ncayiyana JR, Nyasulu PS
Trans R Soc Trop Med Hyg 2015 May;109(5):340-8. Epub 2015 Mar 18 doi: 10.1093/trstmh/trv025. PMID: 25787727
Septicaemia in patients with AIDS.
Shanson DC
Trans R Soc Trop Med Hyg 1990;84 Suppl 1:14-6. doi: 10.1016/0035-9203(90)90449-o. PMID: 2201108

Recent systematic reviews

The Prevalence of HIV Infection in Minority Indigenous Populations of the South-East Asia and Western Pacific Regions: A Systematic Review and Meta-analysis.
Gilmour B, Alene KA, Atalell KA, Clements ACA
AIDS Behav 2023 Jul;27(7):2226-2242. Epub 2022 Dec 22 doi: 10.1007/s10461-022-03954-5. PMID: 36543946Free PMC Article
Xpert MTB/RIF Ultra assay for tuberculosis disease and rifampicin resistance in children.
Kay AW, Ness T, Verkuijl SE, Viney K, Brands A, Masini T, González Fernández L, Eisenhut M, Detjen AK, Mandalakas AM, Steingart KR, Takwoingi Y
Cochrane Database Syst Rev 2022 Sep 6;9(9):CD013359. doi: 10.1002/14651858.CD013359.pub3. PMID: 36065889Free 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
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
Systematic review and meta-analysis of Saccharomyces boulardii in adult patients.
McFarland LV
World J Gastroenterol 2010 May 14;16(18):2202-22. doi: 10.3748/wjg.v16.i18.2202. PMID: 20458757Free PMC Article

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