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Immunodeficiency 85 and autoimmunity(IMD85)

MedGen UID:
1794186
Concept ID:
C5561976
Disease or Syndrome
Synonyms: IMD85; IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
 
Gene (location): TOM1 (22q12.3)
 
Monarch Initiative: MONDO:0030428
OMIM®: 619510

Definition

Immunodeficiency-85 and autoimmunity (IMD85) is an autosomal dominant immunologic disorder characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life. Affected individuals also develop autoimmune enteropathy with vomiting, diarrhea, and poor overall growth. More variable features may include autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies show hypogammaglobulinemia and abnormal T-cell function, consistent with a combined immunodeficiency (Keskitalo et al., 2019). [from OMIM]

Clinical features

From HPO
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive in infancy
MedGen UID:
358083
Concept ID:
C1867873
Finding
Tube feeding
MedGen UID:
8641
Concept ID:
C0014327
Therapeutic or Preventive Procedure
Feeding problem necessitating food and nutrient delivery via a tube.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Villous atrophy
MedGen UID:
154306
Concept ID:
C0554101
Finding
The enteric villi are atrophic or absent.
Oligoarthritis
MedGen UID:
856143
Concept ID:
C3892044
Disease or Syndrome
A type of arthritis that affects up to four joints in the first six months of disease.
Pulmonary fibrosis
MedGen UID:
11028
Concept ID:
C0034069
Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
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.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Eczematoid dermatitis
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.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Decreased circulating IgA level
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Decreased circulating IgE
MedGen UID:
1714318
Concept ID:
C0853668
Finding
An abnormally decreased level of immunoglobulin E (IgE) in blood.
Reduced natural killer cell count
MedGen UID:
383765
Concept ID:
C1855767
Finding
Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
T lymphocytopenia
MedGen UID:
419385
Concept ID:
C2931322
Finding
An abnormally low count of T cells.
Persistent EBV viremia
MedGen UID:
767466
Concept ID:
C3554552
Finding
Persistent presence of Epstein-Barr virus in the blood.
Decreased proportion of memory B cells
MedGen UID:
893145
Concept ID:
C4072913
Finding
A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
Decreased circulating IgG level
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Decreased proportion of CD4-positive helper T cells
MedGen UID:
1719772
Concept ID:
C5235140
Finding
A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.

Professional guidelines

PubMed

Roelandt P, De Looze D, De Schepper H, Ledouble V, Surmont M, Cuming T
Acta Gastroenterol Belg 2022 Oct-Dec;85(4):625-631. doi: 10.51821/85.4.10820. PMID: 36566372
Fillatre P, Crabol Y, Morand P, Piroth L, Honnorat J, Stahl JP, Lecuit M
Med Mal Infect 2017 May;47(3):236-251. Epub 2017 Mar 15 doi: 10.1016/j.medmal.2017.02.004. PMID: 28314470Free PMC Article
Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681

Recent clinical studies

Etiology

Kose H, Karali Z, Bodur M, Cekic S, Kilic SS
Allergol Immunopathol (Madr) 2024;52(1):85-92. Epub 2024 Jan 1 doi: 10.15586/aei.v52i1.961. PMID: 38186198
Autier B, Gottstein B, Millon L, Ramharter M, Gruener B, Bresson-Hadni S, Dion S, Robert-Gangneux F
Clin Microbiol Infect 2023 May;29(5):593-599. Epub 2022 Dec 15 doi: 10.1016/j.cmi.2022.12.010. PMID: 36528295
Kreins AY, Maio S, Dhalla F
Semin Immunopathol 2021 Feb;43(1):85-100. Epub 2020 Nov 30 doi: 10.1007/s00281-020-00826-9. PMID: 33257998Free PMC Article
Clifford GM, Georges D, Shiels MS, Engels EA, Albuquerque A, Poynten IM, de Pokomandy A, Easson AM, Stier EA
Int J Cancer 2021 Jan 1;148(1):38-47. Epub 2020 Jul 29 doi: 10.1002/ijc.33185. PMID: 32621759Free PMC Article
Turvey SE, Bonilla FA, Junker AK
Postgrad Med J 2009 Dec;85(1010):660-6. doi: 10.1136/pgmj.2009.080630. PMID: 20075404

Diagnosis

Autier B, Gottstein B, Millon L, Ramharter M, Gruener B, Bresson-Hadni S, Dion S, Robert-Gangneux F
Clin Microbiol Infect 2023 May;29(5):593-599. Epub 2022 Dec 15 doi: 10.1016/j.cmi.2022.12.010. PMID: 36528295
Clifford GM, Georges D, Shiels MS, Engels EA, Albuquerque A, Poynten IM, de Pokomandy A, Easson AM, Stier EA
Int J Cancer 2021 Jan 1;148(1):38-47. Epub 2020 Jul 29 doi: 10.1002/ijc.33185. PMID: 32621759Free PMC Article
Jamee M, Moniri S, Zaki-Dizaji M, Olbrich P, Yazdani R, Jadidi-Niaragh F, Aghamahdi F, Abolhassani H, Condliffe AM, Aghamohammadi A, Azizi G
Clin Rev Allergy Immunol 2020 Dec;59(3):323-333. doi: 10.1007/s12016-019-08738-9. PMID: 31111319
Fillatre P, Crabol Y, Morand P, Piroth L, Honnorat J, Stahl JP, Lecuit M
Med Mal Infect 2017 May;47(3):236-251. Epub 2017 Mar 15 doi: 10.1016/j.medmal.2017.02.004. PMID: 28314470Free PMC Article
Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681

Therapy

Noori M, Mahjoubfar A, Azizi S, Fayyaz F, Rezaei N
Int Immunopharmacol 2022 Dec;113(Pt A):109317. Epub 2022 Oct 14 doi: 10.1016/j.intimp.2022.109317. PMID: 36252494
Clifford GM, Georges D, Shiels MS, Engels EA, Albuquerque A, Poynten IM, de Pokomandy A, Easson AM, Stier EA
Int J Cancer 2021 Jan 1;148(1):38-47. Epub 2020 Jul 29 doi: 10.1002/ijc.33185. PMID: 32621759Free PMC Article
Chaiteerakij R, Sanpawat A, Avihingsanon A, Treeprasertsuk S
World J Gastroenterol 2019 Sep 21;25(35):5388-5402. doi: 10.3748/wjg.v25.i35.5388. PMID: 31558881Free PMC Article
Hoogewoud F, Frumholtz L, Loubet P, Charlier C, Blanche P, Lebeaux D, Benhaddou N, Sedira N, Coutte L, Vanhaecke C, Launay O, Le Jeunne C, Héron E, Monnet D, Lortholary O, Sahel JA, Dupin N, Brézin A, Errera MH, Salah S, Groh M
Ophthalmology 2017 Dec;124(12):1808-1816. Epub 2017 Aug 2 doi: 10.1016/j.ophtha.2017.06.003. PMID: 28779905
Fillatre P, Crabol Y, Morand P, Piroth L, Honnorat J, Stahl JP, Lecuit M
Med Mal Infect 2017 May;47(3):236-251. Epub 2017 Mar 15 doi: 10.1016/j.medmal.2017.02.004. PMID: 28314470Free PMC Article

Prognosis

Rashedi S, Mardani M, Rafati A, Khavandi MM, Mohammadi F, Javanshir S, Sarallah R, Dolatshahi M, Sabahi M, Azadnajafabad S, Tavolinejad H, Rezaei N
J Clin Lab Anal 2022 Oct;36(10):e24670. Epub 2022 Aug 21 doi: 10.1002/jcla.24670. PMID: 35989533Free PMC Article
Clifford GM, Georges D, Shiels MS, Engels EA, Albuquerque A, Poynten IM, de Pokomandy A, Easson AM, Stier EA
Int J Cancer 2021 Jan 1;148(1):38-47. Epub 2020 Jul 29 doi: 10.1002/ijc.33185. PMID: 32621759Free PMC Article
Hoogewoud F, Frumholtz L, Loubet P, Charlier C, Blanche P, Lebeaux D, Benhaddou N, Sedira N, Coutte L, Vanhaecke C, Launay O, Le Jeunne C, Héron E, Monnet D, Lortholary O, Sahel JA, Dupin N, Brézin A, Errera MH, Salah S, Groh M
Ophthalmology 2017 Dec;124(12):1808-1816. Epub 2017 Aug 2 doi: 10.1016/j.ophtha.2017.06.003. PMID: 28779905
Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681
Kino T, De Martino MU, Charmandari E, Mirani M, Chrousos GP
J Steroid Biochem Mol Biol 2003 Jun;85(2-5):457-67. doi: 10.1016/s0960-0760(03)00218-8. PMID: 12943736

Clinical prediction guides

Halliday N, Eden N, Somers H, Burke N, Silva H, Brito CG, Hall A, Quaglia A, Burns SO, Lowe DM, Thorburn D
Hepatol Commun 2024 Jan 1;8(1) Epub 2023 Dec 15 doi: 10.1097/HC9.0000000000000322. PMID: 38099861Free PMC Article
Ciacci C, Bai JC, Holmes G, Al-Toma A, Biagi F, Carroccio A, Ciccocioppo R, Di Sabatino A, Gingold-Belfer R, Jinga M, Makharia G, Niveloni S, Norman GL, Rostami K, Sanders DS, Smecuol E, Villanacci V, Vivas S, Zingone F; Bi.A.CeD study group
Lancet Gastroenterol Hepatol 2023 Nov;8(11):1005-1014. Epub 2023 Sep 9 doi: 10.1016/S2468-1253(23)00205-4. PMID: 37696284
Coustal C, Goulabchand R, Labauge P, Guilpain P, Carra-Dallière C, Januel E, Jeziorski E, Salle V, Viallard JF, Boutboul D, Fieschi C, Gobert D, Aladjidi N, Rullier P, Graveleau J, Piel-Julian M, Suarez F, Neven B, Mahlaoui N, Ayrignac X
Neurology 2023 Oct 10;101(15):e1560-e1566. Epub 2023 Jul 24 doi: 10.1212/WNL.0000000000207609. PMID: 37487754Free PMC Article
Manisha AM, Shangali AR, Mfinanga SG, Mbugi EV
BMC Endocr Disord 2022 Jul 8;22(1):175. doi: 10.1186/s12902-022-01089-1. PMID: 35804315Free PMC Article
Hoogewoud F, Frumholtz L, Loubet P, Charlier C, Blanche P, Lebeaux D, Benhaddou N, Sedira N, Coutte L, Vanhaecke C, Launay O, Le Jeunne C, Héron E, Monnet D, Lortholary O, Sahel JA, Dupin N, Brézin A, Errera MH, Salah S, Groh M
Ophthalmology 2017 Dec;124(12):1808-1816. Epub 2017 Aug 2 doi: 10.1016/j.ophtha.2017.06.003. PMID: 28779905

Recent systematic reviews

Noori M, Mahjoubfar A, Azizi S, Fayyaz F, Rezaei N
Int Immunopharmacol 2022 Dec;113(Pt A):109317. Epub 2022 Oct 14 doi: 10.1016/j.intimp.2022.109317. PMID: 36252494
Mehrabi Nejad MM, Moosaie F, Dehghanbanadaki H, Haji Ghadery A, Shabani M, Tabary M, Aryannejad A, SeyedAlinaghi S, Rezaei N
Eur J Med Res 2022 Feb 12;27(1):23. doi: 10.1186/s40001-022-00648-5. PMID: 35151362Free PMC Article
Mardani M, Rashedi S, Keykhaei M, Farrokhpour H, Azadnajafabad S, Tavolinejad H, Rezaei N
Pathol Res Pract 2022 Jan;229:153726. Epub 2021 Nov 29 doi: 10.1016/j.prp.2021.153726. PMID: 34942515
Hafezi N, Zaki-Dizaji M, Nirouei M, Asadi G, Sharifinejad N, Jamee M, Erfan Rasouli S, Hamedifar H, Sabzevari A, Chavoshzadeh Z, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Pediatr Allergy Immunol 2021 Oct;32(7):1519-1532. Epub 2021 May 27 doi: 10.1111/pai.13535. PMID: 33963613
Jamee M, Moniri S, Zaki-Dizaji M, Olbrich P, Yazdani R, Jadidi-Niaragh F, Aghamahdi F, Abolhassani H, Condliffe AM, Aghamohammadi A, Azizi G
Clin Rev Allergy Immunol 2020 Dec;59(3):323-333. doi: 10.1007/s12016-019-08738-9. PMID: 31111319

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