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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.
Meningitis
MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
Inflammation of the meninges.
Sepsis
MedGen UID:
48626
Concept ID:
C0036690
Disease or Syndrome
Systemic inflammatory response to infection.
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.
Recurrent skin infections
MedGen UID:
377848
Concept ID:
C1853193
Disease or Syndrome
Infections of the skin that happen multiple times.
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.

Professional guidelines

PubMed

Böhm S, Wustrau K, Pachlopnik Schmid J, Prader S, Ahlmann M, Yacobovich J, Beier R, Speckmann C, Behnisch W, Ifversen M, Jordan M, Marsh R, Naumann-Bartsch N, Mauz-Körholz C, Hönig M, Schulz A, Malinowska I, Hines M, Nichols KE, Gil-Herrera J, Talano JA, Crooks B, Formankova R, Jorch N, Bakhtiar S, Kühnle I, Streiter M, Nathrath M, Russo A, Dürken M, Lang P, Lindemans C, Henter JI, Lehmberg K, Ehl S
Blood 2024 Mar 7;143(10):872-881. doi: 10.1182/blood.2023022281. PMID: 37992218
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
Gandhi V, Nurutdinova D, Milunka Kojic E, Aberg JA
Clin Infect Dis 2018 Mar 19;66(7):1152-1153. doi: 10.1093/cid/cix932. PMID: 29088381

Recent clinical studies

Etiology

Pattanaprichakul P, Leeyaphan C, Angkasekwinai N, Bunyaratavej S, Senawong S, Sereeaphinan C, Munprom K
Int J Dermatol 2023 Dec;62(12):1506-1510. Epub 2023 Oct 12 doi: 10.1111/ijd.16870. PMID: 37828737
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
Quraishi R, Sarkar S, Parmar A, Jain R, Das BK, Ambekar A
Indian J Public Health 2022 Jul-Sep;66(3):331-333. doi: 10.4103/ijph.ijph_1317_21. PMID: 36149115
Oertel FC, Sotirchos ES, Zimmermann HG, Motamedi S, Specovius S, Asseyer ES, Chien C, Cook L, Vasileiou E, Filippatou A, Calabresi PA, Saidha S, Pandit L, D'Cunha A, Outteryck O, Zéphir H, Pittock S, Flanagan EP, Bhatti MT, Rommer PS, Bsteh G, Zrzavy T, Kuempfel T, Aktas O, Ringelstein M, Albrecht P, Ayzenberg I, Pakeerathan T, Knier B, Aly L, Asgari N, Soelberg K, Marignier R, Tilikete CF, Cobo Calvo A, Villoslada P, Sanchez-Dalmau B, Martinez-Lapiscina EH, Llufriu S, Green AJ, Yeaman MR, Smith TJ, Brandt AU, Chen J, Paul F, Havla J; with the GJCF International Clinical Consortium for NMOSD and the CROCTINO study group
Ann Neurol 2022 Sep;92(3):476-485. Epub 2022 Jul 16 doi: 10.1002/ana.26440. PMID: 35703428
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

Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG
J Clin Immunol 2020 Jan;40(1):66-81. Epub 2020 Feb 11 doi: 10.1007/s10875-020-00758-x. PMID: 32048120Free PMC Article
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
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
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
Hermans PE, Ritts RE Jr, Gleich GJ
Postgrad Med 1973 Nov;54(5):66-75. doi: 10.1080/00325481.1973.11713611. PMID: 4593775

Therapy

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
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
Pettit AC, Phillips PPJ, Kurbatova E, Vernon A, Nahid P, Dawson R, Dooley KE, Sanne I, Waja Z, Mohapi L, Podany AT, Samaneka W, Savic RM, Johnson JL, Muzanyi G, Lalloo UG, Bryant K, Sizemore E, Scott N, Dorman SE, Chaisson RE, Swindells S; Tuberculosis Trials Consortium (TBTC) Study 31/AIDS Clinical Trials Group (ACTG) A5349 study team
Clin Infect Dis 2023 Feb 8;76(3):e580-e589. doi: 10.1093/cid/ciac707. PMID: 36041016Free PMC Article
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
Sri JC, Dubina MI, Kao GF, Rady PL, Tyring SK, Gaspari AA
J Am Acad Dermatol 2012 Feb;66(2):292-311. Epub 2011 May 14 doi: 10.1016/j.jaad.2010.12.011. PMID: 21571393

Prognosis

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
Shamu T, Rohner E, Chokunonga E, Spoerri A, Mandiriri A, Chimbetete C, Egger M, Bohlius J, Borok M
Cancer Rep (Hoboken) 2022 Oct;5(10):e1597. Epub 2021 Dec 7 doi: 10.1002/cnr2.1597. PMID: 34873875Free PMC Article
Makumbi FE, Ssempijja V, Sekasanvu J, Ssekubugu R, Kigozi G, Watya S, Nakigozi G, Serwadda D, Wawer M, Gray RH
AIDS 2016 Jun 19;30(10):1669-73. doi: 10.1097/QAD.0000000000001097. PMID: 27243775
Ludvigsson JF, Neovius M, Hammarström L
J Clin Immunol 2013 Nov;33(8):1317-24. doi: 10.1007/s10875-013-9948-4. PMID: 24122027
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

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
Richards VL, Leeman RF, Wang Y, Cook C, Prins C, Ennis N, Spencer EC, Cook RL
AIDS Behav 2022 Oct;26(10):3242-3253. Epub 2022 Apr 5 doi: 10.1007/s10461-022-03674-w. PMID: 35380289Free PMC Article
Heinrich T, Prowald C, Friedl R, Gottwald B, Kalb R, Neveling K, Herterich S, Hoehn H, Schindler D
Eur J Pediatr 2006 Apr;165(4):250-7. Epub 2006 Jan 13 doi: 10.1007/s00431-005-0037-4. PMID: 16411093
Thomsen M, Yacoub-Youssef H, Marcheix B
Tissue Antigens 2005 Aug;66(2):73-82. doi: 10.1111/j.1399-0039.2005.00409.x. PMID: 16029426
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

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
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
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
James C, Harfouche M, Welton NJ, Turner KM, Abu-Raddad LJ, Gottlieb SL, Looker KJ
Bull World Health Organ 2020 May 1;98(5):315-329. Epub 2020 Mar 25 doi: 10.2471/BLT.19.237149. PMID: 32514197Free PMC Article
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

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