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Immunodeficiency 66(IMD66)

MedGen UID:
1717128
•Concept ID:
C5394265
•
Disease or Syndrome
Synonyms: IMD66; IMMUNODEFICIENCY 66
 
Gene (location): MRTFA (22q13.1-13.2)
 
Monarch Initiative: MONDO:0030013
OMIM®: 618847

Definition

Immunodeficiency-66 (IMD66) is an autosomal recessive primary immune disorder caused by defective immune cell migration and chemotaxis resulting from defects in cytoskeletal actin dynamics. Neutrophils are primarily affected, although there may be defects in dendritic cells and T and B cells. The phenotype is characterized by onset of recurrent bacterial infections in infancy. Laboratory studies show normal levels of myeloid and lymphoid cells, but there may be mild thrombocytopenia (summary by Record et al., 2015). [from OMIM]

Clinical features

From HPO
Otitis externa
MedGen UID:
10505
•Concept ID:
C0029878
•
Disease or Syndrome
Inflammation or infection of the external auditory canal (EAC), the auricle, or both.
See: Feature record | Search on this feature
Meningitis
MedGen UID:
6298
•Concept ID:
C0025289
•
Disease or Syndrome
Inflammation of the meninges.
See: Feature record | Search on this feature
Sepsis
MedGen UID:
48626
•Concept ID:
C0036690
•
Disease or Syndrome
Systemic inflammatory response to infection.
See: Feature record | Search on this feature
Pustule
MedGen UID:
488804
•Concept ID:
C0241157
•
Finding
A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.
See: Feature record | Search on this feature
Recurrent skin infections
MedGen UID:
377848
•Concept ID:
C1853193
•
Disease or Syndrome
Infections of the skin that happen multiple times.
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
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Professional guidelines

PubMed

Commentary on Perinatal Peril: Diagnosis of HIV in a Newborn.
Duchon JM
Clin Chem 2020 Jul 1;66(7):882. doi: 10.1093/clinchem/hvaa058. PMID: 32628758
A retrospective review on successful management of Penicillium marneffei infections in patients with advanced HIV in Hospital Sungai Buloh.
Nor-Hayati S, Sahlawati M, Suresh-Kumar C, Lee KC
Med J Malaysia 2012 Feb;67(1):66-70. PMID: 22582551
The management of cytomegalovirus retinitis in AIDS.
Dhillon B
Br J Ophthalmol 1994 Jan;78(1):66-9. doi: 10.1136/bjo.78.1.66. PMID: 8110704Free PMC Article

Recent clinical studies

Etiology

The DoDo experience: an alternative antiretroviral 2-drug regimen of doravirine and dolutegravir.
Sammet S, Touzeau-Römer V, Wolf E, Schenk-Westkamp P, Romano B, Gersbacher E, Kastenbauer U, Boesecke C, Rockstroh J, Scholten S, Schneeweiss S, Roider J, Seybold U
Infection 2023 Dec;51(6):1823-1829. Epub 2023 Aug 1 doi: 10.1007/s15010-023-02075-y. PMID: 37526898Free PMC Article
UnPrEPed for HIV prevention services: Hesitancy among US primary care providers.
Spence AB, Wang C, Michel KG, Merenstein D, Kharfen M, Goparaju L, Kassaye S
Medicine (Baltimore) 2022 Oct 28;101(43):e31242. doi: 10.1097/MD.0000000000031242. PMID: 36316940Free PMC Article
HIV/AIDS: trends in the Middle East and North Africa region.
Gökengin D, Doroudi F, Tohme J, Collins B, Madani N
Int J Infect Dis 2016 Mar;44:66-73. doi: 10.1016/j.ijid.2015.11.008. PMID: 26948920
Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome.
McLean-Tooke A, Spickett GP, Gennery AR
Scand J Immunol 2007 Jul;66(1):1-7. doi: 10.1111/j.1365-3083.2007.01949.x. PMID: 17587340
Uncertainty in illness across the HIV/AIDS trajectory.
Brashers DE, Neidig JL, Reynolds NR, Haas SM
J Assoc Nurses AIDS Care 1998 Jan-Feb;9(1):66-77. doi: 10.1016/S1055-3290(98)80078-2. PMID: 9436169

Diagnosis

Newborn Screening for Severe Combined Immunodeficiency.
Taki M, Miah T, Secord E
Pediatr Clin North Am 2019 Oct;66(5):913-923. doi: 10.1016/j.pcl.2019.06.007. PMID: 31466681
Humoral Immune Deficiencies of Childhood.
El-Bohy M, Poowuttikul P, Secord E
Pediatr Clin North Am 2019 Oct;66(5):897-903. doi: 10.1016/j.pcl.2019.06.010. PMID: 31466679
Uncertainty in illness across the HIV/AIDS trajectory.
Brashers DE, Neidig JL, Reynolds NR, Haas SM
J Assoc Nurses AIDS Care 1998 Jan-Feb;9(1):66-77. doi: 10.1016/S1055-3290(98)80078-2. PMID: 9436169
Immunodeficiency as a component of recognizable syndromes.
Ming JE, Stiehm ER, Graham JM Jr
Am J Med Genet 1996 Dec 30;66(4):378-98. doi: 10.1002/(SICI)1096-8628(19961230)66:4<378::AID-AJMG2>3.0.CO;2-H. PMID: 8989455
Pediatric AIDS.
Amodio JB, Abramson S, Berdon WE, Levy J
Semin Roentgenol 1987 Jan;22(1):66-76. doi: 10.1016/0037-198x(87)90023-x. PMID: 3547680

Therapy

Long-Term Protective Effect of Tuberculosis Preventive Therapy in a Medium/High Tuberculosis Incidence Setting.
Teixeira LAA, Santos B, Correia MG, Valiquette C, Bastos ML, Menzies D, Trajman A
Clin Infect Dis 2024 May 15;78(5):1321-1327. doi: 10.1093/cid/ciae101. PMID: 38407417
The DoDo experience: an alternative antiretroviral 2-drug regimen of doravirine and dolutegravir.
Sammet S, Touzeau-Römer V, Wolf E, Schenk-Westkamp P, Romano B, Gersbacher E, Kastenbauer U, Boesecke C, Rockstroh J, Scholten S, Schneeweiss S, Roider J, Seybold U
Infection 2023 Dec;51(6):1823-1829. Epub 2023 Aug 1 doi: 10.1007/s15010-023-02075-y. PMID: 37526898Free PMC Article
Prevention of alcohol consumption and transmission of human immunodeficiency virus: randomized clinical trial.
Mendez-Ruiz MD, Villegas-Pantoja MA, Alarcón-Luna NS, Villegas N, Cianelli R, Peragallo-Montano N
Rev Lat Am Enfermagem 2020;28:e3262. Epub 2020 May 11 doi: 10.1590/1518-8345.3393.3262. PMID: 32401905Free PMC Article
Biologic Agents and Secondary Immune Deficiency.
Axelrod H, Adams M
Pediatr Clin North Am 2019 Oct;66(5):1007-1020. Epub 2019 Aug 5 doi: 10.1016/j.pcl.2019.06.009. PMID: 31466676
Enhancing reporting of behavior change intervention evaluations.
Abraham C, Johnson BT, de Bruin M, Luszczynska A
J Acquir Immune Defic Syndr 2014 Aug 15;66 Suppl 3:S293-9. doi: 10.1097/QAI.0000000000000231. PMID: 25007199

Prognosis

Long-Term Protective Effect of Tuberculosis Preventive Therapy in a Medium/High Tuberculosis Incidence Setting.
Teixeira LAA, Santos B, Correia MG, Valiquette C, Bastos ML, Menzies D, Trajman A
Clin Infect Dis 2024 May 15;78(5):1321-1327. doi: 10.1093/cid/ciae101. PMID: 38407417
Second primary malignancy risk after Hodgkin lymphoma treatment among HIV-uninfected and HIV-infected survivors.
Abrahão R, Brunson AM, Kahn JM, Li QW, Wun T, Keegan THM
Leuk Lymphoma 2022 May;63(5):1091-1101. Epub 2022 Jan 6 doi: 10.1080/10428194.2021.2020775. PMID: 34989283Free PMC Article
Maternal mortality from COVID 19 among South African pregnant women.
Basu JK, Chauke L, Magoro T
J Matern Fetal Neonatal Med 2022 Dec;35(25):5932-5934. Epub 2021 Mar 22 doi: 10.1080/14767058.2021.1902501. PMID: 33752563
Gastrointestinal and hepatic manifestations of primary immune deficiency diseases.
Al-Muhsen SZ
Saudi J Gastroenterol 2010 Apr-Jun;16(2):66-74. doi: 10.4103/1319-3767.61230. PMID: 20339173Free PMC Article
Uncertainty in illness across the HIV/AIDS trajectory.
Brashers DE, Neidig JL, Reynolds NR, Haas SM
J Assoc Nurses AIDS Care 1998 Jan-Feb;9(1):66-77. doi: 10.1016/S1055-3290(98)80078-2. PMID: 9436169

Clinical prediction guides

The DoDo experience: an alternative antiretroviral 2-drug regimen of doravirine and dolutegravir.
Sammet S, Touzeau-Römer V, Wolf E, Schenk-Westkamp P, Romano B, Gersbacher E, Kastenbauer U, Boesecke C, Rockstroh J, Scholten S, Schneeweiss S, Roider J, Seybold U
Infection 2023 Dec;51(6):1823-1829. Epub 2023 Aug 1 doi: 10.1007/s15010-023-02075-y. PMID: 37526898Free PMC Article
Predictors of in-hospital mortality in HIV-infected patients with COVID-19.
Moreno-Torres V, de Mendoza C, Martínez-Urbistondo M, Mills P, Treviño A, de la Fuente S, Díaz de Santiago A, Calderón-Parra J, Pintos-Pascual I, Corpas M, Soriano V
QJM 2023 Feb 14;116(1):57-62. doi: 10.1093/qjmed/hcac215. PMID: 36047831
Ocular Manifestations in Patients of HIV(Human Immunodeficiency Virus) Infection on Combined Anti-Retroviral Therapy (CART).
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
Interrater agreement of anal cytology.
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
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

COVID-19 Vaccine Acceptance and Hesitancy among People Living with HIV: Review and Meta-Analysis.
Pereira M, Santos Aleluia IR, de Castro CT, de Almeida Oliveira T, Cunha MS, Magno L, Dourado I, Barreto F, Natividade M, Appiah SCY, Abade E, Paixao ES, de Souza MLT
AIDS Behav 2024 Jul;28(7):2193-2204. Epub 2024 May 7 doi: 10.1007/s10461-024-04351-w. PMID: 38713281
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
Estimates of the global burden of cervical cancer associated with HIV.
Stelzle D, Tanaka LF, Lee KK, Ibrahim Khalil A, Baussano I, Shah ASV, McAllister DA, Gottlieb SL, Klug SJ, Winkler AS, Bray F, Baggaley R, Clifford GM, Broutet N, Dalal S
Lancet Glob Health 2021 Feb;9(2):e161-e169. Epub 2020 Nov 16 doi: 10.1016/S2214-109X(20)30459-9. PMID: 33212031Free PMC Article
Safety of cotrimoxazole in pregnancy: a systematic review and meta-analysis.
Ford N, Shubber Z, Jao J, Abrams EJ, Frigati L, Mofenson L
J Acquir Immune Defic Syndr 2014 Aug 15;66(5):512-21. doi: 10.1097/QAI.0000000000000211. PMID: 24853309Free PMC Article
Risk factors associated with recent transmission of tuberculosis: systematic review and meta-analysis.
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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      Related information in NCBI Gene
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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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