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Candidiasis, familial, 1(CANDF1)

MedGen UID:
414015
Concept ID:
C2751429
Disease or Syndrome
Synonyms: CANDF1; CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT, WITH OR WITHOUT THYROID DISEASE
 
Monarch Initiative: MONDO:0007257
OMIM®: 114580

Definition

Chronic mucocutaneous candidiasis (CMC) includes a group of rare disorders with altered immune responses, selective against Candida, characterized by persistent and/or recurrent infections of the skin, nails, and mucous membranes, caused by organisms of the genus Candida, mainly Candida albicans (Zuccarello et al., 2002). Isolated familial chronic mucocutaneous candidiasis is distinct from candidiasis with endocrinopathy (240300). In myeloperoxidase deficiency (254600), susceptibility to candidiasis may be increased. Genetic Heterogeneity of Candidiasis Familial candidiasis-1 (CANDF1) maps to chromosome 2p. CANDF2 (212050) is caused by mutation in the CARD9 gene (607212) on chromosome 9q34.3. CANDF3 (607644), a form restricted to nails of the hands and feet, maps to chromosome 11. CANDF4 (613108) is caused by mutation in the CLEC7A gene (606264) on chromosome 12p13. CANDF6 (613956) is caused by mutation in the IL17F gene (606496) on chromosome 6p12. CANDF7 (614162) is caused by mutation in the STAT1 gene (600555) on chromosome 2q32. CANDF8 (615527) is caused by mutation in the TRAF3IP2 gene (607043) on chromosome 6q21. CANDF9 (616445) is caused by mutation in the IL17RC gene (610925) on chromosome 3p25. A form of familial candidiasis, previously thought to be isolated and designated CANDF5, has been found to be part of a primary immune deficiency (IMD51; 613953) that includes Staphylococcal skin infections and increased susceptibility to chronic bacterial respiratory infections. [from OMIM]

Clinical features

From HPO
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.
Recurrent viral infections
MedGen UID:
332357
Concept ID:
C1837066
Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
Cutaneous anergy
MedGen UID:
344575
Concept ID:
C1855781
Finding
Inability to react to a delayed hypersensitivity skin test.
Premature loss of teeth
MedGen UID:
66678
Concept ID:
C0232513
Finding
Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Abnormality of the endocrine system
MedGen UID:
893021
Concept ID:
C4025823
Anatomical Abnormality
An abnormality of the endocrine system.

Professional guidelines

PubMed

Benedict K, Moret R, Molinari NAM, Jackson BR
PLoS One 2022;17(12):e0278630. Epub 2022 Dec 30 doi: 10.1371/journal.pone.0278630. PMID: 36584109Free PMC Article
Benedict K, Lyman M, Jackson BR
PLoS One 2022;17(4):e0267866. Epub 2022 Apr 28 doi: 10.1371/journal.pone.0267866. PMID: 35482794Free PMC Article
Chascsa DM, Ferré EMN, Hadjiyannis Y, Alao H, Natarajan M, Quinones M, Kleiner DE, Simcox TL, Chitsaz E, Rose SR, Hallgren A, Kampe O, Marko J, Ali RO, Auh S, Koh C, Belkaid Y, Lionakis MS, Heller T
Hepatology 2021 Mar;73(3):1088-1104. doi: 10.1002/hep.31421. PMID: 32557834Free PMC Article

Recent clinical studies

Etiology

Winthrop KL, Mariette X, Silva JT, Benamu E, Calabrese LH, Dumusc A, Smolen JS, Aguado JM, Fernández-Ruiz M
Clin Microbiol Infect 2018 Jun;24 Suppl 2:S21-S40. Epub 2018 Feb 12 doi: 10.1016/j.cmi.2018.02.002. PMID: 29447987
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198
Silk H
Prim Care 2014 Mar;41(1):75-90. doi: 10.1016/j.pop.2013.10.011. PMID: 24439882
Stiehm ER
Pediatr Res 1993 Jan;33(1 Suppl):S2-7; discussion S7-8. doi: 10.1203/00006450-199305001-00007. PMID: 8433870
Maccato ML, Kaufman RH
Curr Opin Obstet Gynecol 1991 Dec;3(6):849-52. PMID: 1818723

Diagnosis

Kraut R, Carvallo FD, Golonka R, Campbell SM, Rehmani A, Babenko O, Lee MC, Vieira-Baptista P
PLoS One 2023;18(1):e0280954. Epub 2023 Jan 26 doi: 10.1371/journal.pone.0280954. PMID: 36701339Free PMC Article
Fisher BT, Boge CLK, Xiao R, Shuster S, Chin-Quee D, Allen J, Shaheen S, Hayden R, Suganda S, Zaoutis TE, Chang YC, Yin DE, Huppler AR, Danziger-Isakov L, Muller WJ, Roilides E, Romero J, Sue PK, Berman D, Wattier RL, Halasa N, Pong A, Maron G, Soler-Palacin P, Hutto SC, Gonzalez BE, Salvatore CM, Rajan S, Green M, Doby Knackstedt E, Hauger SB, Steinbach WJ
Clin Infect Dis 2022 Aug 25;75(2):248-259. doi: 10.1093/cid/ciab928. PMID: 35134165Free PMC Article
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198
Silk H
Prim Care 2014 Mar;41(1):75-90. doi: 10.1016/j.pop.2013.10.011. PMID: 24439882
Fleming AF
Baillieres Clin Haematol 1990 Jan;3(1):177-205. doi: 10.1016/s0950-3536(05)80087-3. PMID: 2182139

Therapy

Winthrop KL, Mariette X, Silva JT, Benamu E, Calabrese LH, Dumusc A, Smolen JS, Aguado JM, Fernández-Ruiz M
Clin Microbiol Infect 2018 Jun;24 Suppl 2:S21-S40. Epub 2018 Feb 12 doi: 10.1016/j.cmi.2018.02.002. PMID: 29447987
Guillot B
Expert Opin Drug Saf 2002 Nov;1(4):325-9. doi: 10.1517/14740338.1.4.325. PMID: 12904132
Hassan E, Creatsas G, Gravanis A, Georgoulias V, Psychoyos A
Ann N Y Acad Sci 1997 Jun 17;816:451-6. doi: 10.1111/j.1749-6632.1997.tb52175.x. PMID: 9238301
Maccato ML, Kaufman RH
Curr Opin Obstet Gynecol 1991 Dec;3(6):849-52. PMID: 1818723
Wilson E
Practitioner 1988 Jan;232(1441):32-6. PMID: 2975377

Prognosis

Cranston T, Boon H, Olesen MK, Ryan FJ, Shears D, London R, Rostom H, Elajnaf T, Thakker RV, Hannan FM
Eur J Endocrinol 2022 May 24;187(1):111-122. doi: 10.1530/EJE-21-0730. PMID: 35521792Free PMC Article
Fisher BT, Boge CLK, Xiao R, Shuster S, Chin-Quee D, Allen J, Shaheen S, Hayden R, Suganda S, Zaoutis TE, Chang YC, Yin DE, Huppler AR, Danziger-Isakov L, Muller WJ, Roilides E, Romero J, Sue PK, Berman D, Wattier RL, Halasa N, Pong A, Maron G, Soler-Palacin P, Hutto SC, Gonzalez BE, Salvatore CM, Rajan S, Green M, Doby Knackstedt E, Hauger SB, Steinbach WJ
Clin Infect Dis 2022 Aug 25;75(2):248-259. doi: 10.1093/cid/ciab928. PMID: 35134165Free PMC Article
Alkhars N, Zeng Y, Alomeir N, Al Jallad N, Wu TT, Aboelmagd S, Youssef M, Jang H, Fogarty C, Xiao J
J Dent Res 2022 Jan;101(1):54-62. Epub 2021 May 21 doi: 10.1177/00220345211012385. PMID: 34018817Free PMC Article
Low A, Gavriilidis G, Larke N, B-Lajoie MR, Drouin O, Stover J, Muhe L, Easterbrook P
Clin Infect Dis 2016 Jun 15;62(12):1595-1603. Epub 2016 Mar 6 doi: 10.1093/cid/ciw125. PMID: 26951573Free PMC Article
Anderson MR, Klink K, Cohrssen A
JAMA 2004 Mar 17;291(11):1368-79. doi: 10.1001/jama.291.11.1368. PMID: 15026404

Clinical prediction guides

Kraut R, Carvallo FD, Golonka R, Campbell SM, Rehmani A, Babenko O, Lee MC, Vieira-Baptista P
PLoS One 2023;18(1):e0280954. Epub 2023 Jan 26 doi: 10.1371/journal.pone.0280954. PMID: 36701339Free PMC Article
Cranston T, Boon H, Olesen MK, Ryan FJ, Shears D, London R, Rostom H, Elajnaf T, Thakker RV, Hannan FM
Eur J Endocrinol 2022 May 24;187(1):111-122. doi: 10.1530/EJE-21-0730. PMID: 35521792Free PMC Article
Winthrop KL, Mariette X, Silva JT, Benamu E, Calabrese LH, Dumusc A, Smolen JS, Aguado JM, Fernández-Ruiz M
Clin Microbiol Infect 2018 Jun;24 Suppl 2:S21-S40. Epub 2018 Feb 12 doi: 10.1016/j.cmi.2018.02.002. PMID: 29447987
Anderson MR, Klink K, Cohrssen A
JAMA 2004 Mar 17;291(11):1368-79. doi: 10.1001/jama.291.11.1368. PMID: 15026404
Stiehm ER
Pediatr Res 1993 Jan;33(1 Suppl):S2-7; discussion S7-8. doi: 10.1203/00006450-199305001-00007. PMID: 8433870

Recent systematic reviews

Chan J, Flynn DM, Gordon M, Parmar R, Moolenschot K, Jackman L, Gaynor E, Epstein J, Cordell A, Kannappan H, Furman M, Thompson J, Gasparetto M, Auth MKH
BMJ Paediatr Open 2024 May 23;8(1) doi: 10.1136/bmjpo-2023-002467. PMID: 38782481Free PMC Article
Shen Loo Y, Yee Wong T, Veettil SK, Se Wong P, Gopinath D, Mooi Ching S, Kunnath Menon R
Oral Dis 2021 Oct;27(7):1631-1643. Epub 2020 Sep 28 doi: 10.1111/odi.13588. PMID: 32762108
Wong TY, Loo YS, Veettil SK, Wong PS, Divya G, Ching SM, Menon RK
Sci Rep 2020 Sep 3;10(1):14575. doi: 10.1038/s41598-020-71571-0. PMID: 32884060Free PMC Article
Kahwati LC, Clark R, Berkman N, Urrutia R, Patel SV, Zeng J, Viswanathan M
JAMA 2020 Apr 7;323(13):1293-1309. doi: 10.1001/jama.2020.0233. PMID: 32259235
Low A, Gavriilidis G, Larke N, B-Lajoie MR, Drouin O, Stover J, Muhe L, Easterbrook P
Clin Infect Dis 2016 Jun 15;62(12):1595-1603. Epub 2016 Mar 6 doi: 10.1093/cid/ciw125. PMID: 26951573Free PMC Article

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