U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Immunodeficiency 51(IMD51)

MedGen UID:
934770
Concept ID:
C4310803
Disease or Syndrome
Synonyms: CANDIDIASIS, FAMILIAL, 5; IMD51
 
Gene (location): IL17RA (22q11.1)
 
Monarch Initiative: MONDO:0013500
OMIM®: 613953

Definition

Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (603149), IL17F (606496), IL17A/F, and IL17E (IL25; 605658) (summary by Levy et al., 2016). [from OMIM]

Clinical features

From HPO
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Chronic mucocutaneous candidiasis
MedGen UID:
2426
Concept ID:
C0006845
Disease or Syndrome
Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
Eczema
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.
Folliculitis
MedGen UID:
4752
Concept ID:
C0016436
Disease or Syndrome
Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Pustular rash
MedGen UID:
43222
Concept ID:
C0085641
Sign or Symptom
A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis
Cutaneous abscess
MedGen UID:
450991
Concept ID:
C0149777
Pathologic Function
A circumscribed area of pus or necrotic debris in the skin.
Abnormal lymphocyte morphology
MedGen UID:
66370
Concept ID:
C0221277
Finding
An abnormality of lymphocytes.
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 otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Recurrent skin infections
MedGen UID:
377848
Concept ID:
C1853193
Disease or Syndrome
Infections of the skin that happen multiple times.
Recurrent Staphylococcus aureus infections
MedGen UID:
392925
Concept ID:
C2673462
Finding
Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.
Recurrent cutaneous fungal infections
MedGen UID:
868980
Concept ID:
C4023394
Finding
Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.
Chronic furunculosis
MedGen UID:
869103
Concept ID:
C4023521
Disease or Syndrome
A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.
Chronic oral candidiasis
MedGen UID:
870166
Concept ID:
C4024599
Disease or Syndrome
Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.
Abnormal lymphocyte physiology
MedGen UID:
1627345
Concept ID:
C4531142
Cell or Molecular Dysfunction
Any anomaly of lymphocyte function.

Professional guidelines

PubMed

Chen W, Xia C, Zheng R, Zhou M, Lin C, Zeng H, Zhang S, Wang L, Yang Z, Sun K, Li H, Brown MD, Islami F, Bray F, Jemal A, He J
Lancet Glob Health 2019 Feb;7(2):e257-e269. doi: 10.1016/S2214-109X(18)30488-1. PMID: 30683243
Jellinger PS, Handelsman Y, Rosenblit PD, Bloomgarden ZT, Fonseca VA, Garber AJ, Grunberger G, Guerin CK, Bell DSH, Mechanick JI, Pessah-Pollack R, Wyne K, Smith D, Brinton EA, Fazio S, Davidson M
Endocr Pract 2017 Apr;23(Suppl 2):1-87. doi: 10.4158/EP171764.APPGL. PMID: 28437620
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul-Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785

Recent clinical studies

Etiology

Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Bosticardo M, Pala F, Notarangelo LD
Eur J Immunol 2021 May;51(5):1028-1038. Epub 2021 Mar 22 doi: 10.1002/eji.202048880. PMID: 33682138Free PMC Article
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
Wong M
J Paediatr Child Health 2015 Feb;51(2):135-9. doi: 10.1111/jpc.12834. PMID: 25677480
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E
J Allergy Clin Immunol 2012 Jul;130(1):177-83. Epub 2012 Jun 2 doi: 10.1016/j.jaci.2012.04.029. PMID: 22664165

Diagnosis

Mitjà O, Alemany A, Marks M, Lezama Mora JI, Rodríguez-Aldama JC, Torres Silva MS, Corral Herrera EA, Crabtree-Ramirez B, Blanco JL, Girometti N, Mazzotta V, Hazra A, Silva M, Montenegro-Idrogo JJ, Gebo K, Ghosn J, Peña Vázquez MF, Matos Prado E, Unigwe U, Villar-García J, Wald-Dickler N, Zucker J, Paredes R, Calmy A, Waters L, Galvan-Casas C, Walmsley S, Orkin CM; SHARE-NET writing group
Lancet 2023 Mar 18;401(10380):939-949. Epub 2023 Feb 21 doi: 10.1016/S0140-6736(23)00273-8. PMID: 36828001
Sobrino S, Magnani A, Semeraro M, Martignetti L, Cortal A, Denis A, Couzin C, Picard C, Bustamante J, Magrin E, Joseph L, Roudaut C, Gabrion A, Soheili T, Cordier C, Lortholary O, Lefrere F, Rieux-Laucat F, Casanova JL, Bodard S, Boddaert N, Thrasher AJ, Touzot F, Taque S, Suarez F, Marcais A, Guilloux A, Lagresle-Peyrou C, Galy A, Rausell A, Blanche S, Cavazzana M, Six E
Cell Rep Med 2023 Feb 21;4(2):100919. Epub 2023 Jan 26 doi: 10.1016/j.xcrm.2023.100919. PMID: 36706754Free PMC Article
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul-Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E
J Allergy Clin Immunol 2012 Jul;130(1):177-83. Epub 2012 Jun 2 doi: 10.1016/j.jaci.2012.04.029. PMID: 22664165

Therapy

Sobrino S, Magnani A, Semeraro M, Martignetti L, Cortal A, Denis A, Couzin C, Picard C, Bustamante J, Magrin E, Joseph L, Roudaut C, Gabrion A, Soheili T, Cordier C, Lortholary O, Lefrere F, Rieux-Laucat F, Casanova JL, Bodard S, Boddaert N, Thrasher AJ, Touzot F, Taque S, Suarez F, Marcais A, Guilloux A, Lagresle-Peyrou C, Galy A, Rausell A, Blanche S, Cavazzana M, Six E
Cell Rep Med 2023 Feb 21;4(2):100919. Epub 2023 Jan 26 doi: 10.1016/j.xcrm.2023.100919. PMID: 36706754Free PMC Article
Jarrar D, Song GY
Thorac Surg Clin 2018 Feb;28(1):105-108. doi: 10.1016/j.thorsurg.2017.09.005. PMID: 29150032
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
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
Stephens HA
Infect Genet Evol 2012 Oct;12(7):1481-91. Epub 2012 May 7 doi: 10.1016/j.meegid.2012.04.011. PMID: 22575339

Prognosis

Du M, Wang Y, Qin C, Mi D, Liu M, Liu J
AIDS 2023 Sep 1;37(11):1747-1756. Epub 2023 Jun 21 doi: 10.1097/QAD.0000000000003632. PMID: 37352496Free PMC Article
Mallart E, Françoise U, Driessen M, Blanche S, Lortholary O, Lefort A, Caseris M, Fischer A, Mahlaoui N, Charlier C; PREPI study group
J Allergy Clin Immunol 2023 Sep;152(3):760-770. Epub 2023 May 18 doi: 10.1016/j.jaci.2023.05.006. PMID: 37210041
Zhang J, Ma B, Han X, Ding S, Li Y
Lancet Child Adolesc Health 2022 Nov;6(11):763-776. Epub 2022 Sep 13 doi: 10.1016/S2352-4642(22)00219-X. PMID: 36108664
Senefeld JW, Klassen SA, Ford SK, Senese KA, Wiggins CC, Bostrom BC, Thompson MA, Baker SE, Nicholson WT, Johnson PW, Carter RE, Henderson JP, Hartman WR, Pirofski LA, Wright RS, Fairweather L, Bruno KA, Paneth NS, Casadevall A, Joyner MJ
Transfusion 2021 Aug;61(8):2503-2511. Epub 2021 Jun 1 doi: 10.1111/trf.16525. PMID: 34036587Free PMC Article
Guo H, Liu J, Pu L, Hao J, Yin N, Liu Y, Xiong H, Li A
BMC Nephrol 2020 Mar 11;21(1):95. doi: 10.1186/s12882-020-01754-4. PMID: 32160882Free PMC Article

Clinical prediction guides

Sobrino S, Magnani A, Semeraro M, Martignetti L, Cortal A, Denis A, Couzin C, Picard C, Bustamante J, Magrin E, Joseph L, Roudaut C, Gabrion A, Soheili T, Cordier C, Lortholary O, Lefrere F, Rieux-Laucat F, Casanova JL, Bodard S, Boddaert N, Thrasher AJ, Touzot F, Taque S, Suarez F, Marcais A, Guilloux A, Lagresle-Peyrou C, Galy A, Rausell A, Blanche S, Cavazzana M, Six E
Cell Rep Med 2023 Feb 21;4(2):100919. Epub 2023 Jan 26 doi: 10.1016/j.xcrm.2023.100919. PMID: 36706754Free PMC Article
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul-Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785
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
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E
J Allergy Clin Immunol 2012 Jul;130(1):177-83. Epub 2012 Jun 2 doi: 10.1016/j.jaci.2012.04.029. PMID: 22664165

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
O Murchu E, Marshall L, Teljeur C, Harrington P, Hayes C, Moran P, Ryan M
BMJ Open 2022 May 11;12(5):e048478. doi: 10.1136/bmjopen-2020-048478. PMID: 35545381Free PMC Article
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
Sultana ZZ, Hoque FU, Beyene J, Akhlak-Ul-Islam M, Khan MHR, Ahmed S, Hawlader DH, Hossain A
BMC Infect Dis 2021 Jan 11;21(1):51. doi: 10.1186/s12879-020-05749-2. PMID: 33430786Free PMC Article
Degenhardt L, Peacock A, Colledge S, Leung J, Grebely J, Vickerman P, Stone J, Cunningham EB, Trickey A, Dumchev K, Lynskey M, Griffiths P, Mattick RP, Hickman M, Larney S
Lancet Glob Health 2017 Dec;5(12):e1192-e1207. Epub 2017 Oct 23 doi: 10.1016/S2214-109X(17)30375-3. PMID: 29074409Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...