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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 level
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

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
Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.
Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA
J Eur Acad Dermatol Venereol 2022 Jul;36(7):973-986. Epub 2022 Mar 15 doi: 10.1111/jdv.18043. PMID: 35238435Free 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

Progress in the field of hematopoietic stem cell-based therapies for inborn errors of immunity.
Arnold DE, Pai SY
Curr Opin Pediatr 2023 Dec 1;35(6):663-670. Epub 2023 Sep 21 doi: 10.1097/MOP.0000000000001292. PMID: 37732933Free PMC Article
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD
Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
Persistent SARS-CoV-2 PCR Positivity Despite Anti-viral Treatment in Immunodeficient Patients.
Chan M, Linn MMN, O'Hagan T, Guerra-Assunção JA, Lackenby A, Workman S, Dacre A, Burns SO, Breuer J, Hart J, Tadros S, Lowe DM
J Clin Immunol 2023 Aug;43(6):1083-1092. Epub 2023 May 6 doi: 10.1007/s10875-023-01504-9. PMID: 37148422Free PMC Article
HIV-1 in Pakistan: Where we stand? Where we will go?
Khan S, Abbas W
J Pak Med Assoc 2017 Nov;67(11):1730-1733. PMID: 29171569
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

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
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD
Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
Primary immunodeficiency in the neonate: Early diagnosis and management.
Walkovich K, Connelly JA
Semin Fetal Neonatal Med 2016 Feb;21(1):35-43. Epub 2016 Jan 8 doi: 10.1016/j.siny.2015.12.005. PMID: 26776073
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
Immunodeficiency overview.
Morimoto Y, Routes JM
Prim Care 2008 Mar;35(1):159-73, viii. doi: 10.1016/j.pop.2007.09.004. PMID: 18206723

Therapy

Single High Dose of Liposomal Amphotericin B in Human Immunodeficiency Virus/AIDS-Related Disseminated Histoplasmosis: A Randomized Trial.
Pasqualotto AC, Lana DD, Godoy CSM, Leitão TDMJS, Bay MB, Damasceno LS, Soares RBA, Kist R, Silva LR, Wiltgen D, Melo M, Guimarães TF, Guimarães MR, Vechi HT, de Mesquita JRL, Monteiro GRG, Adenis A, Bahr NC, Spec A, Boulware DR, Israelski D, Chiller T, Falci DR
Clin Infect Dis 2023 Oct 13;77(8):1126-1132. doi: 10.1093/cid/ciad313. PMID: 37232940Free PMC Article
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
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
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

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
HIV infection and its effects on the development of autoimmune disorders.
Vega LE, Espinoza LR
Pharmacol Res 2018 Mar;129:1-9. Epub 2018 Jan 10 doi: 10.1016/j.phrs.2018.01.005. PMID: 29331332
Cardiac Disease Associated with Human Immunodeficiency Virus Infection.
Bloomfield GS, Leung C
Cardiol Clin 2017 Feb;35(1):59-70. doi: 10.1016/j.ccl.2016.09.003. PMID: 27886790
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
Immunodeficiency overview.
Morimoto Y, Routes JM
Prim Care 2008 Mar;35(1):159-73, viii. doi: 10.1016/j.pop.2007.09.004. PMID: 18206723

Clinical prediction guides

Persistent SARS-CoV-2 PCR Positivity Despite Anti-viral Treatment in Immunodeficient Patients.
Chan M, Linn MMN, O'Hagan T, Guerra-Assunção JA, Lackenby A, Workman S, Dacre A, Burns SO, Breuer J, Hart J, Tadros S, Lowe DM
J Clin Immunol 2023 Aug;43(6):1083-1092. Epub 2023 May 6 doi: 10.1007/s10875-023-01504-9. PMID: 37148422Free PMC Article
Cytometric analysis and clinical features in a Moroccan cohort with severe combined immunodeficiency.
El Allam A, El Fakihi S, Tahoune H, Sahmoudi K, Bousserhane H, Bakri Y, El Hafidi N, Seghrouchni F
Hum Antibodies 2022;30(2):67-77. doi: 10.3233/HAB-211510. PMID: 35094990
Validation of the definitions of nursing diagnoses for individuals with Aids.
Souza Neto VL, Costa RTDS, Santos WND, Fernandes SF, Lima DM, Silva RARD
Rev Bras Enferm 2020;73(4):e20180915. Epub 2020 May 18 doi: 10.1590/0034-7167-2018-0915. PMID: 32428126
Altered DNA ligase activity in human disease.
Tomkinson AE, Naila T, Khattri Bhandari S
Mutagenesis 2020 Feb 13;35(1):51-60. doi: 10.1093/mutage/gez026. PMID: 31630206Free 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

Recent systematic reviews

Treatment-related adverse events of antibody-drug conjugates in clinical trials: A systematic review and meta-analysis.
Zhu Y, Liu K, Wang K, Zhu H
Cancer 2023 Jan 15;129(2):283-295. Epub 2022 Nov 21 doi: 10.1002/cncr.34507. PMID: 36408673Free PMC Article
Global prevalence of injecting drug use and sociodemographic characteristics and prevalence of HIV, HBV, and HCV in people who inject drugs: a multistage systematic review.
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
Topical capsaicin (high concentration) for chronic neuropathic pain in adults.
Derry S, Rice AS, Cole P, Tan T, Moore RA
Cochrane Database Syst Rev 2017 Jan 13;1(1):CD007393. doi: 10.1002/14651858.CD007393.pub4. PMID: 28085183Free 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
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

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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      Related information in PubMed Central Links
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