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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): Gene(s) directly associated with this condition or phenotype.	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.

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Failure to thrive in infancy

MedGen UID:: 358083
•Concept ID:: C1867873
•: Finding

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Tube feeding

MedGen UID:: 8641
•Concept ID:: C0014327
•: Therapeutic or Preventive Procedure

Feeding problem necessitating food and nutrient delivery via a tube.

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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.

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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.

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Villous atrophy

MedGen UID:: 154306
•Concept ID:: C0554101
•: Finding

The enteric villi are atrophic or absent.

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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.

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Pulmonary fibrosis

MedGen UID:: 11028
•Concept ID:: C0034069
•: Disease or Syndrome

Replacement of normal lung tissues by fibroblasts and collagen.

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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.

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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.

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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.

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Lymphopenia

MedGen UID:: 7418
•Concept ID:: C0024312
•: Disease or Syndrome

A reduced number of lymphocytes in the blood.

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Decreased circulating IgA concentration

MedGen UID:: 57934
•Concept ID:: C0162538
•: Disease or Syndrome

Decreased levels of immunoglobulin A (IgA).

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Decreased circulating total IgM

MedGen UID:: 116095
•Concept ID:: C0239989
•: Finding

An abnormally decreased level of immunoglobulin M (IgM) in blood.

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Decreased circulating IgE concentration

MedGen UID:: 1714318
•Concept ID:: C0853668
•: Finding

An abnormally decreased level of immunoglobulin E (IgE) in blood.

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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.

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T lymphocytopenia

MedGen UID:: 419385
•Concept ID:: C2931322
•: Finding

An abnormally low count of T cells.

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Persistent EBV viremia

MedGen UID:: 767466
•Concept ID:: C3554552
•: Finding

Persistent presence of Epstein-Barr virus in the blood.

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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).

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Decreased circulating IgG concentration

MedGen UID:: 1720114
•Concept ID:: C5234937
•: Finding

An abnormally decreased level of immunoglobulin G (IgG) in blood.

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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.

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Abnormality of the digestive system
Abnormality of the immune system
Abnormality of the musculoskeletal system
- Oligoarthritis
Abnormality of the respiratory system
- Pulmonary fibrosis
- Recurrent respiratory infections
Growth abnormality
- Failure to thrive in infancy
- Growth delay

Professional guidelines

PubMed

Infectious encephalitis: Management without etiological diagnosis 48hours after onset.

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: 28314470 Free PMC Article

Approach to the Management of Autoimmunity in Primary Immunodeficiency.

Azizi G, Ziaee V, Tavakol M, Alinia T, Yazdai R, Mohammadi H, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):13-29. doi: 10.1111/sji.12506. PMID: 27862144

Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.

Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681

See all (13)

Recent clinical studies

Etiology

Comparative Study of Paraneoplastic and Nonparaneoplastic Autoimmune Encephalitis With GABA(B)R Antibodies.

Lamblin F, Kerstens J, Muñiz-Castrillo S, Vogrig A, Goncalves D, Rogemond V, Picard G, Villard M, Pinto AL, Van Coevorden-Hameete MH, De Bruijn MA, De Vries JM, Schreurs M, Tyvaert L, Hopes L, Aupy J, Marchal C, Psimaras D, Kremer L, Bourg V, Antoine JG, Wang A, Kahane P, Demeret S, Ahle G, Sempere VP, Timestit N, Nourredine M, Maureille A, Benaiteau M, Joubert B, Mignot E, Titulaer MJ, Honnorat J
Neurol Neuroimmunol Neuroinflamm 2024 May;11(3):e200229. Epub 2024 Apr 24 doi: 10.1212/NXI.0000000000200229. PMID: 38657198 Free PMC Article

Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry.

Vitale A, Caggiano V, Martin-Nares E, Frassi M, Dagna L, Hissaria P, Sfriso P, Hernández-Rodríguez J, Ruiz-Irastorza G, Monti S, Tufan A, Piga M, Giardini HAM, Lopalco G, Viapiana O, De Paulis A, Triggianese P, Vitetta R, de-la-Torre A, Fonollosa A, Caroni F, Sota J, Conticini E, Sbalchiero J, Renieri A, Casamassima G, Wiesik-Szewczyk E, Yildirim D, Hinojosa-Azaola A, Crisafulli F, Franceschini F, Campochiaro C, Tomelleri A, Callisto A, Beecher M, Bindoli S, Baggio C, Gómez-Caverzaschi V, Pelegrín L, Soto-Peleteiro A, Milanesi A, Vasi I, Cauli A, Antonelli IPB, Iannone F, Bixio R, Casa FD, Mormile I, Gurnari C, Fiorenza A, Mejia-Salgado G, Kawakami-Campos PA, Ragab G, Ciccia F, Ruscitti P, Bocchia M, Balistreri A, Tosi GM, Frediani B, Cantarini L, Fabiani C
Semin Arthritis Rheum 2024 Jun;66:152430. Epub 2024 Mar 18 doi: 10.1016/j.semarthrit.2024.152430. PMID: 38554594

Alveolar echinococcosis in immunocompromised hosts.

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

A meta-analysis of anal cancer incidence by risk group: Toward a unified anal cancer risk scale.

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: 32621759 Free PMC Article

Prognostic Factors in Syphilitic Uveitis.

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

See all (77)

Diagnosis

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

Bianchi C, Margot H, Fernandes H, Pasquet M, Priqueler L, Roy-Peaud F, Bauduer F, Bayart S, Garnier N, Fain O, Van Gils J, Joly SB, Rialland F, Paillard C, Deparis M, Lambilliotte A, Leblanc T, Fahd M, Leverger G, Héritier S, Geneviève D, Rieux-Laucat F, Picard C, Neyraud C, Aladjidi N
Br J Haematol 2024 May;204(5):1899-1907. Epub 2024 Mar 3 doi: 10.1111/bjh.19387. PMID: 38432067

Alveolar echinococcosis in immunocompromised hosts.

A meta-analysis of anal cancer incidence by risk group: Toward a unified anal cancer risk scale.

Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.

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

Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.

Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681

See all (87)

Therapy

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

Clinical, Radiologic, and Immunologic Features of Patients With CTLA4 Deficiency With Neurologic Involvement.

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: 37487754 Free PMC Article

A meta-analysis of anal cancer incidence by risk group: Toward a unified anal cancer risk scale.

Prognostic Factors in Syphilitic Uveitis.

Infectious encephalitis: Management without etiological diagnosis 48hours after onset.

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: 28314470 Free PMC Article

See all (42)

Prognosis

Comparative Study of Paraneoplastic and Nonparaneoplastic Autoimmune Encephalitis With GABA(B)R Antibodies.

Circular RNAs as prognostic and diagnostic biomarkers in renal cell carcinoma.

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: 35989533 Free PMC Article

A meta-analysis of anal cancer incidence by risk group: Toward a unified anal cancer risk scale.

Prognostic Factors in Syphilitic Uveitis.

Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.

Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681

See all (42)

Clinical prediction guides

Comparative Study of Paraneoplastic and Nonparaneoplastic Autoimmune Encephalitis With GABA(B)R Antibodies.

Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry.

Common variable immunodeficiency disorder-related liver disease is common and results in portal hypertension and an increased risk of death.

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: 38099861 Free PMC Article

Clinical, Radiologic, and Immunologic Features of Patients With CTLA4 Deficiency With Neurologic Involvement.

Prognostic Factors in Syphilitic Uveitis.

See all (42)

Recent systematic reviews

Immune checkpoint inhibitors plus chemotherapy versus chemotherapy alone as first-line therapy for advanced gastric and esophageal cancers: A systematic review and meta-analysis.

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

Immunogenicity of COVID-19 mRNA vaccines in immunocompromised patients: a systematic review and meta-analysis.

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: 35151362 Free PMC Article

Long non-coding RNAs (lncRNAs) as prognostic and diagnostic biomarkers in multiple myeloma: A systematic review and meta-analysis.

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

Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: A systematic review.

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

Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.

See all (5)

MedGen

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Immunodeficiency 85 and autoimmunity(IMD85)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Recent activity