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Immunodeficiency 35(IMD35)

MedGen UID:
409751
•Concept ID:
C1969086
•
Disease or Syndrome
Synonyms: Familial Atypical Mycobacteriosis, TYK2-Related; HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; IMD35; Susceptibility to infection due to TYK2 deficiency; TYK2 DEFICIENCY; Tyrosine kinase 2 deficiency
SNOMED CT: Autosomal recessive hyper-IgE (immunoglobulin E) syndrome due to TYK2 deficiency (1197415001); Susceptibility to infection due to TYK2 deficiency (1197415001); Susceptibility to infection due to tyrosine kinase 2 deficiency (1197415001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): TYK2 (19p13.2)
 
Monarch Initiative: MONDO:0012682
OMIM®: 611521
Orphanet: ORPHA331226

Definition

Immunodeficiency-35 (IMD35) is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Fungal infections are not observed. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways (summary by Kreins et al., 2015). [from OMIM]

Clinical features

From HPO
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.
See: Feature record | Search on this feature
Immunodeficiency
MedGen UID:
7034
•Concept ID:
C0021051
•
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
See: Feature record | Search on this feature
Increased circulating IgE concentration
MedGen UID:
116018
•Concept ID:
C0236175
•
Finding
An abnormally increased overall level of immunoglobulin E in blood.
See: Feature record | Search on this feature
Recurrent viral infections
MedGen UID:
332357
•Concept ID:
C1837066
•
Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
See: Feature record | Search on this feature
Recurrent fungal infections
MedGen UID:
336166
•Concept ID:
C1844384
•
Disease or Syndrome
Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
See: Feature record | Search on this feature
Recurrent mycobacterial infections
MedGen UID:
869021
•Concept ID:
C4023438
•
Finding
Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency 35
Follow this link to review classifications for Immunodeficiency 35 in Orphanet.

Professional guidelines

PubMed

International Anal Neoplasia Society's consensus guidelines for anal cancer screening.
Stier EA, Clarke MA, Deshmukh AA, Wentzensen N, Liu Y, Poynten IM, Cavallari EN, Fink V, Barroso LF, Clifford GM, Cuming T, Goldstone SE, Hillman RJ, Rosa-Cunha I, La Rosa L, Palefsky JM, Plotzker R, Roberts JM, Jay N
Int J Cancer 2024 May 15;154(10):1694-1702. Epub 2024 Jan 31 doi: 10.1002/ijc.34850. PMID: 38297406
Diagnosis and treatment of tuberculosis in adults with HIV.
Yang Q, Han J, Shen J, Peng X, Zhou L, Yin X
Medicine (Baltimore) 2022 Sep 2;101(35):e30405. doi: 10.1097/MD.0000000000030405. PMID: 36107594Free PMC Article
Megestrol acetate for treatment of anorexia-cachexia syndrome.
Ruiz Garcia V, López-Briz E, Carbonell Sanchis R, Gonzalvez Perales JL, Bort-Marti S
Cochrane Database Syst Rev 2013 Mar 28;2013(3):CD004310. doi: 10.1002/14651858.CD004310.pub3. PMID: 23543530Free PMC Article

Recent clinical studies

Etiology

Association between primary immunodeficiency and asthma exacerbation in adult asthmatics.
Lee SH, Ban GY, Kim SC, Chung CG, Lee HY, Lee JH, Park HS
Korean J Intern Med 2020 Mar;35(2):449-456. Epub 2019 Jun 14 doi: 10.3904/kjim.2018.413. PMID: 31185709Free PMC Article
The NEW ESID online database network.
Scheible R, Rusch S, Guzman D, Mahlaoui N, Ehl S, Kindle G
Bioinformatics 2019 Dec 15;35(24):5367-5369. doi: 10.1093/bioinformatics/btz525. PMID: 31263866
Rheumatologic manifestations of primary immunodeficiency diseases.
Dimitriades VR, Sorensen R
Clin Rheumatol 2016 Apr;35(4):843-50. Epub 2016 Mar 14 doi: 10.1007/s10067-016-3229-6. PMID: 26971790
Primary Immunodeficiency Masquerading as Allergic Disease.
Chan SK, Gelfand EW
Immunol Allergy Clin North Am 2015 Nov;35(4):767-78. Epub 2015 Sep 4 doi: 10.1016/j.iac.2015.07.008. PMID: 26454318
Common Variable Immunodeficiency: Diagnosis, Management, and Treatment.
Abbott JK, Gelfand EW
Immunol Allergy Clin North Am 2015 Nov;35(4):637-58. Epub 2015 Sep 4 doi: 10.1016/j.iac.2015.07.009. PMID: 26454311

Diagnosis

Newborn screening for severe combined immunodeficiency and inborn errors of immunity.
Lev A, Somech R, Somekh I
Curr Opin Pediatr 2023 Dec 1;35(6):692-702. Epub 2023 Sep 14 doi: 10.1097/MOP.0000000000001291. PMID: 37707504
Severe Combined Immunodeficiency Disorders.
Chinn IK, Shearer WT
Immunol Allergy Clin North Am 2015 Nov;35(4):671-94. doi: 10.1016/j.iac.2015.07.002. PMID: 26454313
Specific Antibody Deficiencies.
Wall LA, Dimitriades VR, Sorensen RU
Immunol Allergy Clin North Am 2015 Nov;35(4):659-70. Epub 2015 Aug 25 doi: 10.1016/j.iac.2015.07.003. PMID: 26454312
Common Variable Immunodeficiency: Diagnosis, Management, and Treatment.
Abbott JK, Gelfand EW
Immunol Allergy Clin North Am 2015 Nov;35(4):637-58. Epub 2015 Sep 4 doi: 10.1016/j.iac.2015.07.009. PMID: 26454311
Overview of Immunodeficiency Disorders.
Raje N, Dinakar C
Immunol Allergy Clin North Am 2015 Nov;35(4):599-623. Epub 2015 Aug 25 doi: 10.1016/j.iac.2015.07.001. PMID: 26454309Free PMC Article

Therapy

The Question of HIV Vaccine: Why Is a Solution Not Yet Available?
Libera M, Caputo V, Laterza G, Moudoud L, Soggiu A, Bonizzi L, Diotti RA
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HIV/AIDS Vaccines: 2018.
Robinson HL
Clin Pharmacol Ther 2018 Dec;104(6):1062-1073. Epub 2018 Oct 9 doi: 10.1002/cpt.1208. PMID: 30099743Free PMC Article
Safety and efficacy of cladribine tablets in patients with relapsing-remitting multiple sclerosis: Results from the randomized extension trial of the CLARITY study.
Giovannoni G, Soelberg Sorensen P, Cook S, Rammohan K, Rieckmann P, Comi G, Dangond F, Adeniji AK, Vermersch P
Mult Scler 2018 Oct;24(12):1594-1604. Epub 2017 Sep 5 doi: 10.1177/1352458517727603. PMID: 28870107
Skeletal health in adults with HIV infection.
Bolland MJ, Grey A, Reid IR
Lancet Diabetes Endocrinol 2015 Jan;3(1):63-74. Epub 2014 Feb 26 doi: 10.1016/S2213-8587(13)70181-5. PMID: 24731663
Megestrol acetate for treatment of anorexia-cachexia syndrome.
Ruiz Garcia V, López-Briz E, Carbonell Sanchis R, Gonzalvez Perales JL, Bort-Marti S
Cochrane Database Syst Rev 2013 Mar 28;2013(3):CD004310. doi: 10.1002/14651858.CD004310.pub3. PMID: 23543530Free PMC Article

Prognosis

Cancer in people with multidrug-resistant HIV.
Clemente T, Pontillo D, Malagnino V, Calza L, Di Biagio A, Cenderello G, Lolatto R, Manzillo E, Moioli MC, De Socio GV, Castagna A, Spagnuolo V; PRESTIGIO Study Group
AIDS 2024 Oct 1;38(12):1801-1806. Epub 2024 Aug 29 doi: 10.1097/QAD.0000000000003952. PMID: 39206886
Overview of Immunodeficiency Disorders.
Raje N, Dinakar C
Immunol Allergy Clin North Am 2015 Nov;35(4):599-623. Epub 2015 Aug 25 doi: 10.1016/j.iac.2015.07.001. PMID: 26454309Free PMC Article
Global epidemiology of HIV.
Fettig J, Swaminathan M, Murrill CS, Kaplan JE
Infect Dis Clin North Am 2014 Sep;28(3):323-37. doi: 10.1016/j.idc.2014.05.001. PMID: 25151559Free PMC Article
Oral manifestation of HIV/AIDS.
Arotiba JT, Arowojolu MO, Fasola AO, Denloye OO, Obiechina AE
Afr J Med Med Sci 2006 Dec;35 Suppl:13-8. PMID: 18050772
HIV-1/AIDS and maternal and child health in Africa.
Dabis F, Ekpini ER
Lancet 2002 Jun 15;359(9323):2097-104. doi: 10.1016/S0140-6736(02)08909-2. PMID: 12086778

Clinical prediction guides

A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome.
Badolato R, Alsina L, Azar A, Bertrand Y, Bolyard AA, Dale D, Deyà-Martínez À, Dickerson KE, Ezra N, Hasle H, Kang HJ, Kiani-Alikhan S, Kuijpers TW, Kulagin A, Langguth D, Levin C, Neth O, Olbrich P, Peake J, Rodina Y, Rutten CE, Shcherbina A, Tarrant TK, Vossen MG, Wysocki CA, Belschner A, Bridger GJ, Chen K, Dubuc S, Hu Y, Jiang H, Li S, MacLeod R, Stewart M, Taveras AG, Yan T, Donadieu J
Blood 2024 Jul 4;144(1):35-45. doi: 10.1182/blood.2023022658. PMID: 38643510Free PMC Article
Meaning in life, goals, and adherence to antiretroviral treatment in people living with HIV.
Rosas-Santiago FJ, Rodríguez-Pérez V, Lagunes-Córdoba R, López-Suárez Ana Delia, Marván ML
AIDS Care 2023 Jul;35(7):995-1000. Epub 2022 Nov 11 doi: 10.1080/09540121.2022.2142929. PMID: 36367188
Community-Based HIV Testing for Urban Youth in Western Kenya.
Truong HM, Guzé MA, Ouma D, Bushman D, Mocello AR, Kadede K, Bukusi EA, Odhiambo F, Cohen CR
AIDS Behav 2022 Mar;26(3):814-821. Epub 2021 Sep 14 doi: 10.1007/s10461-021-03441-3. PMID: 34518938Free PMC Article
Efficacy and Safety of Subcutaneous Belimumab in Systemic Lupus Erythematosus: A Fifty-Two-Week Randomized, Double-Blind, Placebo-Controlled Study.
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
Transfusion-associated (T-A)-AIDS in the United States.
Ward JW
Dev Biol Stand 1993;81:41-3. PMID: 8174818

Recent systematic reviews

The Global, Regional, and National Burden of Adult Lip, Oral, and Pharyngeal Cancer in 204 Countries and Territories: A Systematic Analysis for the Global Burden of Disease Study 2019.
GBD 2019 Lip, Oral, and Pharyngeal Cancer Collaborators, Cunha ARD, Compton K, Xu R, Mishra R, Drangsholt MT, Antunes JLF, Kerr AR, Acheson AR, Lu D, Wallace LE, Kocarnik JM, Fu W, Dean FE, Pennini A, Henrikson HJ, Alam T, Ababneh E, Abd-Elsalam S, Abdoun M, Abidi H, Abubaker Ali H, Abu-Gharbieh E, Adane TD, Addo IY, Ahmad A, Ahmad S, Ahmed Rashid T, Akonde M, Al Hamad H, Alahdab F, Alimohamadi Y, Alipour V, Al-Maweri SA, Alsharif U, Ansari-Moghaddam A, Anwar SL, Anyasodor AE, Arabloo J, Aravkin AY, Aruleba RT, Asaad M, Ashraf T, Athari SS, Attia S, Azadnajafabad S, Azangou-Khyavy M, Badar M, Baghcheghi N, Banach M, Bardhan M, Barqawi HJ, Bashir NZ, Bashiri A, Benzian H, Bernabe E, Bhagat DS, Bhojaraja VS, Bjørge T, Bouaoud S, Braithwaite D, Briko NI, Calina D, Carreras G, Chakraborty PA, Chattu VK, Chaurasia A, Chen MX, Cho WCS, Chu DT, Chukwu IS, Chung E, Cruz-Martins N, Dadras O, Dai X, Dandona L, Dandona R, Daneshpajouhnejad P, Darvishi Cheshmeh Soltani R, Darwesh AM, Debela SA, Derbew Molla M, Dessalegn FN, Dianati-Nasab M, Digesa LE, Dixit SG, Dixit A, Djalalinia S, El Sayed I, El Tantawi M, Enyew DB, Erku DA, Ezzeddini R, Fagbamigbe AF, Falzone L, Fetensa G, Fukumoto T, Gaewkhiew P, Gallus S, Gebrehiwot M, Ghashghaee A, Gill PS, Golechha M, Goleij P, Gomez RS, Gorini G, Guimaraes ALS, Gupta B, Gupta S, Gupta VB, Gupta VK, Haj-Mirzaian A, Halboub ES, Halwani R, Hanif A, Hariyani N, Harorani M, Hasani H, Hassan AM, Hassanipour S, Hassen MB, Hay SI, Hayat K, Herrera-Serna BY, Holla R, Horita N, Hosseinzadeh M, Hussain S, Ilesanmi OS, Ilic IM, Ilic MD, Isola G, Jaiswal A, Jani CT, Javaheri T, Jayarajah U, Jayaram S, Joseph N, Kadashetti V, Kandaswamy E, Karanth SD, Karaye IM, Kauppila JH, Kaur H, Keykhaei M, Khader YS, Khajuria H, Khanali J, Khatib MN, Khayat Kashani HR, Khazeei Tabari MA, Kim MS, Kompani F, Koohestani HR, Kumar GA, Kurmi OP, La Vecchia C, Lal DK, Landires I, Lasrado S, Ledda C, Lee YH, Libra M, Lim SS, Listl S, Lopukhov PD, Mafi AR, Mahumud RA, Malik AA, Mathur MR, Maulud SQ, Meena JK, Mehrabi Nasab E, Mestrovic T, Mirfakhraie R, Misganaw A, Misra S, Mithra P, Mohammad Y, Mohammadi M, Mohammadi E, Mokdad AH, Moni MA, Moraga P, Morrison SD, Mozaffari HR, Mubarik S, Murray CJL, Nair TS, Narasimha Swamy S, Narayana AI, Nassereldine H, Natto ZS, Nayak BP, Negru SM, Nggada HA, Nouraei H, Nuñez-Samudio V, Oancea B, Olagunju AT, Omar Bali A, Padron-Monedero A, Padubidri JR, Pandey A, Pardhan S, Patel J, Pezzani R, Piracha ZZ, Rabiee N, Radhakrishnan V, Radhakrishnan RA, Rahmani AM, Rahmanian V, Rao CR, Rao SJ, Rath GK, Rawaf DL, Rawaf S, Rawassizadeh R, Razeghinia MS, Rezaei N, Rezaei N, Rezaei N, Rezapour A, Riad A, Roberts TJ, Romero-Rodríguez E, Roshandel G, S M, S N C, Saddik B, Saeb MR, Saeed U, Safaei M, Sahebazzamani M, Sahebkar A, Salek Farrokhi A, Samy AM, Santric-Milicevic MM, Sathian B, Satpathy M, Šekerija M, Senthilkumaran S, Seylani A, Shafaat O, Shahsavari HR, Shamsoddin E, Sharew MM, Sharifi-Rad J, Shetty JK, Shivakumar KM, Shobeiri P, Shorofi SA, Shrestha S, Siddappa Malleshappa SK, Singh P, Singh JA, Singh G, Sinha DN, Solomon Y, Suleman M, Suliankatchi Abdulkader R, Taheri Abkenar Y, Talaat IM, Tan KK, Tbakhi A, Thiyagarajan A, Tiyuri A, Tovani-Palone MR, Unnikrishnan B, Vo B, Volovat SR, Wang C, Westerman R, Wickramasinghe ND, Xiao H, Yu C, Yuce D, Yunusa I, Zadnik V, Zare I, Zhang ZJ, Zoladl M, Force LM, Hugo FN
JAMA Oncol 2023 Oct 1;9(10):1401-1416. doi: 10.1001/jamaoncol.2023.2960. PMID: 37676656Free PMC Article
Treatment-related adverse events of antibody-drug conjugates in clinical trials: A systematic review and meta-analysis.
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Cancer 2023 Jan 15;129(2):283-295. Epub 2022 Nov 21 doi: 10.1002/cncr.34507. PMID: 36408673Free PMC Article
Safety of cotrimoxazole in pregnancy: a systematic review and meta-analysis.
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J Acquir Immune Defic Syndr 2014 Aug 15;66(5):512-21. doi: 10.1097/QAI.0000000000000211. PMID: 24853309Free PMC Article
Megestrol acetate for treatment of anorexia-cachexia syndrome.
Ruiz Garcia V, López-Briz E, Carbonell Sanchis R, Gonzalvez Perales JL, Bort-Marti S
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Systematic review and meta-analysis of Saccharomyces boulardii in adult patients.
McFarland LV
World J Gastroenterol 2010 May 14;16(18):2202-22. doi: 10.3748/wjg.v16.i18.2202. PMID: 20458757Free PMC Article

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