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Immunodeficiency 125

MedGen UID:
1053596
Concept ID:
CN378160
Disease or Syndrome
Synonym: immunodeficiency 125
 
Gene (location): FLT3LG (19q13.33)
 
Monarch Initiative: MONDO:0975749
OMIM®: 620926

Definition

Immunodeficiency-125 (IMD125) is an autosomal recessive inborn error of immunity characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections. Notably, affected individuals have severe HPV infections with disseminated common warts and oral HSV infections. The bone marrow is hypoplastic with low levels of CD34+ hematopoietic stem cells. Laboratory studies show anemia, decreased B cells, severely decreased monocytes, and decreased dendritic cells (Momenilandi et al., 2024). [from OMIM]

Professional guidelines

PubMed

Kumi Smith M, Jewell BL, Hallett TB, Cohen MS
Adv Exp Med Biol 2018;1075:125-162. doi: 10.1007/978-981-13-0484-2_6. PMID: 30030792
Williams D, Geraci A, Simpson DM
Curr Pain Headache Rep 2002 Apr;6(2):125-30. doi: 10.1007/s11916-002-0008-7. PMID: 11872183
Stanton MJ, Maxted W
J Urol 1981 Feb;125(2):139-46. doi: 10.1016/s0022-5347(17)54940-x. PMID: 7009885

Recent clinical studies

Etiology

Sattwika PD, Subronto YW, Retnowulan H, Sattwika KA, Nurdiati DS
Infect Dis (Lond) 2023 Mar;55(3):221-233. Epub 2023 Jan 11 doi: 10.1080/23744235.2023.2165708. PMID: 36630310
Vargas-Pacherrez D, Cotrim HP, Pires L, Cunha V, Coelho V, Brites C, Daltro C
Curr HIV Res 2020;18(6):388-395. doi: 10.2174/1570162X18666200609115615. PMID: 32516101
Noubissi EC, Katte JC, Sobngwi E
Curr Diab Rep 2018 Oct 8;18(11):125. doi: 10.1007/s11892-018-1076-3. PMID: 30294763
Downing A, Garcia-Diaz JB
J Int Assoc Provid AIDS Care 2017 Jan/Feb;16(1):14-17. Epub 2016 Aug 19 doi: 10.1177/2325957416661423. PMID: 27496867
Iordache L, Launay O, Bouchaud O, Jeantils V, Goujard C, Boue F, Cacoub P, Hanslik T, Mahr A, Lambotte O, Fain O; Associated authors
Autoimmun Rev 2014 Aug;13(8):850-7. Epub 2014 Apr 18 doi: 10.1016/j.autrev.2014.04.005. PMID: 24747058

Diagnosis

Roos D
Br Med Bull 2016 Jun;118(1):50-63. Epub 2016 Mar 16 doi: 10.1093/bmb/ldw009. PMID: 26983962Free PMC Article
Jakimowicz T, Wojtaszek E, Augustine T, Grzejszczak A, Matuszkiewicz-Rowińska J
Pol Arch Med Wewn 2013;123(3):125-6. PMID: 23535858
Oliveira JB, Fleisher TA
J Allergy Clin Immunol 2010 Feb;125(2 Suppl 2):S297-305. Epub 2009 Dec 29 doi: 10.1016/j.jaci.2009.08.043. PMID: 20042230Free PMC Article
Notarangelo LD
J Allergy Clin Immunol 2010 Feb;125(2 Suppl 2):S182-94. Epub 2009 Dec 29 doi: 10.1016/j.jaci.2009.07.053. PMID: 20042228
Bull World Health Organ 1971;45(1):125-42. PMID: 5004396Free PMC Article

Therapy

Kumi Smith M, Jewell BL, Hallett TB, Cohen MS
Adv Exp Med Biol 2018;1075:125-162. doi: 10.1007/978-981-13-0484-2_6. PMID: 30030792
Jakimowicz T, Wojtaszek E, Augustine T, Grzejszczak A, Matuszkiewicz-Rowińska J
Pol Arch Med Wewn 2013;123(3):125-6. PMID: 23535858
Ferrara G, Zumla A, Maeurer M
Am J Med 2012 Oct;125(10):1036.e1-8. Epub 2012 May 16 doi: 10.1016/j.amjmed.2012.01.023. PMID: 22608788
Notarangelo LD
J Allergy Clin Immunol 2010 Feb;125(2 Suppl 2):S182-94. Epub 2009 Dec 29 doi: 10.1016/j.jaci.2009.07.053. PMID: 20042228
Williams D, Geraci A, Simpson DM
Curr Pain Headache Rep 2002 Apr;6(2):125-30. doi: 10.1007/s11916-002-0008-7. PMID: 11872183

Prognosis

Badali H, Alian S, Fakhim H, Falahatinejad M, Moradi A, Mohammad Davoudi M, Hagen F, Meis JF
Mycoses 2015 Dec;58(12):689-93. Epub 2015 Oct 7 doi: 10.1111/myc.12415. PMID: 26444438
Iordache L, Launay O, Bouchaud O, Jeantils V, Goujard C, Boue F, Cacoub P, Hanslik T, Mahr A, Lambotte O, Fain O; Associated authors
Autoimmun Rev 2014 Aug;13(8):850-7. Epub 2014 Apr 18 doi: 10.1016/j.autrev.2014.04.005. PMID: 24747058
Lockwood DN, Lambert SM
Dermatol Clin 2011 Jan;29(1):125-8. doi: 10.1016/j.det.2010.08.016. PMID: 21095536
Koksal Y, Caliskan U, Ucar C, Yurtcu M, Artac H, Ilerisoy-Yakut Z, Reisli I
Pediatr Hematol Oncol 2007 Sep;24(6):431-6. doi: 10.1080/08880010701451434. PMID: 17710660
Guillevin L, Cohen P
Curr Rheumatol Rep 2002 Feb;4(1):60-6. doi: 10.1007/s11926-002-0025-x. PMID: 11798984

Clinical prediction guides

Sattwika PD, Subronto YW, Retnowulan H, Sattwika KA, Nurdiati DS
Infect Dis (Lond) 2023 Mar;55(3):221-233. Epub 2023 Jan 11 doi: 10.1080/23744235.2023.2165708. PMID: 36630310
Hunt M, McNiff MM, Vincent AE, Sabin C, Winston A, Payne BAI
AIDS 2022 Nov 15;36(14):1927-1934. Epub 2022 Jul 15 doi: 10.1097/QAD.0000000000003334. PMID: 35848592Free PMC Article
Lécuyer R, Issa N, Tessoulin B, Lavergne RA, Morio F, Gabriel F, Canet E, Bressollette-Bodin C, Guillouzouic A, Boutoille D, Raffi F, Lecomte R, Le Turnier P, Deschanvres C, Camou F, Gaborit BJ; PRONOCYSTIS Study Group
J Infect Dis 2022 Mar 2;225(5):868-880. doi: 10.1093/infdis/jiab460. PMID: 34604908
Noubissi EC, Katte JC, Sobngwi E
Curr Diab Rep 2018 Oct 8;18(11):125. doi: 10.1007/s11892-018-1076-3. PMID: 30294763
Jackson TJ, Chow G, Suri M, Byrd P, Taylor MR, Whitehouse WP
Dev Med Child Neurol 2016 Jul;58(7):690-7. Epub 2016 Feb 19 doi: 10.1111/dmcn.13052. PMID: 26896183

Recent systematic reviews

Sattwika PD, Subronto YW, Retnowulan H, Sattwika KA, Nurdiati DS
Infect Dis (Lond) 2023 Mar;55(3):221-233. Epub 2023 Jan 11 doi: 10.1080/23744235.2023.2165708. PMID: 36630310
Blanco N, Lavoie MC, Koech E, Riedel DJ, Ngeno C, Adebajo S, Ludeman E, Stafford KA
AIDS Behav 2022 Jan;26(1):132-146. Epub 2021 Jul 10 doi: 10.1007/s10461-021-03365-y. PMID: 34245395
Lin C, Slama J, Gonzalez P, Goodman MT, Xia N, Kreimer AR, Wu T, Hessol NA, Shvetsov Y, Ortiz AP, Grinsztejn B, Moscicki AB, Heard I, Del Refugio González Losa M, Kojic EM, Schim van der Loeff MF, Wei F, Longatto-Filho A, Mbulawa ZA, Palefsky JM, Sohn AH, Hernandez BY, Robison K, Simpson S Jr, Conley LJ, de Pokomandy A, van der Sande MAB, Dube Mandishora RS, Volpini LPB, Pierangeli A, Romero B, Wilkin T, Franceschi S, Hidalgo-Tenorio C, Ramautarsing RA, Park IU, Tso FK, Godbole S, D'Hauwers KWM, Sehnal B, Menezes LJ, Heráclio SA, Clifford GM
Lancet Infect Dis 2019 Aug;19(8):880-891. Epub 2019 Jun 13 doi: 10.1016/S1473-3099(19)30164-1. PMID: 31204304Free PMC Article
Todd CS, Anderman TC, Long S, Myer L, Bekker LG, Petro GA, Jones HE
Contraception 2018 Jul;98(1):8-24. Epub 2018 Feb 9 doi: 10.1016/j.contraception.2018.02.002. PMID: 29432719Free PMC Article
Firestone R, Rowe CJ, Modi SN, Sievers D
Health Policy Plan 2017 Feb;32(1):110-124. Epub 2016 Jul 31 doi: 10.1093/heapol/czw088. PMID: 27476502

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