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Immunodeficiency 89 and autoimmunity(IMD89)

MedGen UID:
1794237
Concept ID:
C5562027
Disease or Syndrome
Synonyms: IMD89; IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
 
Gene (location): CARD10 (22q13.1)
 
Monarch Initiative: MONDO:0030484
OMIM®: 619632

Definition

Immunodeficiency-89 and autoimmunity (IMD89) is an autosomal recessive immune disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease (see 266600) (Yang et al., 2020). [from OMIM]

Clinical features

From HPO
Crohn disease
MedGen UID:
3664
Concept ID:
C0010346
Disease or Syndrome
A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
Hypochromic microcytic anemia
MedGen UID:
124413
Concept ID:
C0271901
Disease or Syndrome
A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Pulmonary bulla
MedGen UID:
537120
Concept ID:
C0241982
Disease or Syndrome
Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.
Pleural thickening
MedGen UID:
538648
Concept ID:
C0264545
Disease or Syndrome
An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.
Recurrent lower respiratory tract infections
MedGen UID:
756211
Concept ID:
C3163798
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Rheumatoid factor positive
MedGen UID:
56226
Concept ID:
C0151379
Laboratory or Test Result
The presence in the serum of an autoantibody directed against the Fc portion of IgG.
Antinuclear antibody positivity
MedGen UID:
101792
Concept ID:
C0151480
Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Increased circulating IgE level
MedGen UID:
116018
Concept ID:
C0236175
Finding
An abnormally increased overall level of immunoglobulin E in blood.
Increased circulating IgA level
MedGen UID:
66800
Concept ID:
C0239984
Finding
An abnormally increased level of immunoglobulin A in blood.
Decreased eosinophil count
MedGen UID:
1630945
Concept ID:
C0854104
Finding
Abnormal reduction in the count of eosinophils in the blood per volume.
Increased circulating IgG level
MedGen UID:
347032
Concept ID:
C1858977
Finding
An abnormally increased level of immunoglobulin G in blood.
Anti-thyroglobulin antibody positivity
MedGen UID:
1670955
Concept ID:
C4732836
Finding
The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.
Reduced circulating interleukin 10 concentration
MedGen UID:
1814327
Concept ID:
C5676758
Finding
An abnormally decreased concentration of interleukin 10 in the blood circulation.
Reduced circulating interleukin 21 concentration
MedGen UID:
1814329
Concept ID:
C5676760
Finding
An abnormally decreased concentration of interleukin 21 in the blood circulation.
Reduced circulating interleukin 22 concentration
MedGen UID:
1814332
Concept ID:
C5676763
Finding
An abnormally decreased concentration of interleukin 22 in the blood circulation.
Reduced circulating interleukin 23 concentration
MedGen UID:
1814335
Concept ID:
C5676766
Finding
An abnormally decreased concentration of interleukin 23 in the blood circulation.
Reduced circulating interleukin 27 concentration
MedGen UID:
1814338
Concept ID:
C5676769
Finding
An abnormally decreased concentration of interleukin 27 in the blood circulation.
Reduced circulating interleukin 17A concentration
MedGen UID:
1814341
Concept ID:
C5676772
Finding
An abnormally decreased concentration of interleukin 17A in the blood circulation.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Elevated circulating C-reactive protein concentration
MedGen UID:
892906
Concept ID:
C4023452
Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.

Professional guidelines

PubMed

Daza-Cajigal V, Segura-Guerrero M, López-Cueto M, Robles-Marhuenda Á, Camara C, Gerra-Galán T, Gómez-de-la-Torre R, Avendaño-Monje CL, Sánchez-Ramón S, Bosque-Lopez MJ, Quintero-Duarte A, Bonet-Vidal ML, Pons J
Front Immunol 2023;14:1197361. Epub 2023 Jun 5 doi: 10.3389/fimmu.2023.1197361. PMID: 37342345Free PMC Article
Calaprice D, Tona J, Murphy TK
J Child Adolesc Psychopharmacol 2018 Mar;28(2):92-103. Epub 2017 Aug 23 doi: 10.1089/cap.2017.0101. PMID: 28832181Free PMC Article
Wolach O, Bairey O, Lahav M
Medicine (Baltimore) 2010 Sep;89(5):308-318. doi: 10.1097/MD.0b013e3181f2caef. PMID: 20827108

Recent clinical studies

Etiology

Batlle-Masó L, Garcia-Prat M, Parra-Martínez A, Franco-Jarava C, Aguiló-Cucurull A, Velasco P, Antolín M, Rivière JG, Martín-Nalda A, Soler-Palacín P, Martínez-Gallo M, Colobran R
Front Immunol 2022;13:1014984. Epub 2022 Nov 18 doi: 10.3389/fimmu.2022.1014984. PMID: 36466883Free PMC Article
Popa C, Fischer R, Kurbitaeva S, Ravakhah K
South Med J 2022 Aug;115(8):593-596. doi: 10.14423/SMJ.0000000000001424. PMID: 35922044
Hogendorf A, Zieliński M, Constantinou M, Śmigiel R, Wierzba J, Wyka K, Wędrychowicz A, Jakubiuk-Tomaszuk A, Budzynska E, Piotrowicz M, Lipska-Ziętkiewicz BS, Kaczorowska E, Cieślikowska A, Kutkowska-Kaźmierczak A, Fijak-Moskal J, Kugaudo M, Kosińska-Urbańska M, Szadkowska A, Borowiec M, Niedźwiecki M, Trzonkowski P, Młynarski W
Front Immunol 2021;12:742834. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.742834. PMID: 34867966Free PMC Article
Suri D, Rikhi R, Jindal AK, Rawat A, Sudhakar M, Vignesh P, Gupta A, Kaur A, Sharma J, Ahluwalia J, Bhatia P, Khadwal A, Raj R, Uppuluri R, Desai M, Taur P, Pandrowala AA, Gowri V, Madkaikar MR, Lashkari HP, Bhattad S, Kumar H, Verma S, Imai K, Nonoyama S, Ohara O, Chan KW, Lee PP, Lau YL, Singh S
Front Immunol 2021;12:627651. Epub 2021 Apr 16 doi: 10.3389/fimmu.2021.627651. PMID: 33936041Free 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

Diagnosis

Torres-Valle A, Aragon L, Silva SL, Serrano C, Marcos M, Melero J, Bonroy C, Arenas-Caro PP, Casado DM, Olaizola PMR, Neirinck J, Hofmans M, de Arriba S, Jara M, Prieto C, Sousa AE, Prada Á, van Dongen JJM, Pérez-Andrés M, Orfao A
Front Immunol 2023;14:1285088. Epub 2023 Nov 15 doi: 10.3389/fimmu.2023.1285088. PMID: 38035080Free PMC Article
Batlle-Masó L, Garcia-Prat M, Parra-Martínez A, Franco-Jarava C, Aguiló-Cucurull A, Velasco P, Antolín M, Rivière JG, Martín-Nalda A, Soler-Palacín P, Martínez-Gallo M, Colobran R
Front Immunol 2022;13:1014984. Epub 2022 Nov 18 doi: 10.3389/fimmu.2022.1014984. PMID: 36466883Free PMC Article
Suri D, Rikhi R, Jindal AK, Rawat A, Sudhakar M, Vignesh P, Gupta A, Kaur A, Sharma J, Ahluwalia J, Bhatia P, Khadwal A, Raj R, Uppuluri R, Desai M, Taur P, Pandrowala AA, Gowri V, Madkaikar MR, Lashkari HP, Bhattad S, Kumar H, Verma S, Imai K, Nonoyama S, Ohara O, Chan KW, Lee PP, Lau YL, Singh S
Front Immunol 2021;12:627651. Epub 2021 Apr 16 doi: 10.3389/fimmu.2021.627651. PMID: 33936041Free 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
Voigt A, Semenova T, Yamamoto J, Etienne V, Nguyen CQ
Adv Exp Med Biol 2018;1068:89-102. doi: 10.1007/978-981-13-0502-3_8. PMID: 29943298Free PMC Article

Therapy

Suri D, Rikhi R, Jindal AK, Rawat A, Sudhakar M, Vignesh P, Gupta A, Kaur A, Sharma J, Ahluwalia J, Bhatia P, Khadwal A, Raj R, Uppuluri R, Desai M, Taur P, Pandrowala AA, Gowri V, Madkaikar MR, Lashkari HP, Bhattad S, Kumar H, Verma S, Imai K, Nonoyama S, Ohara O, Chan KW, Lee PP, Lau YL, Singh S
Front Immunol 2021;12:627651. Epub 2021 Apr 16 doi: 10.3389/fimmu.2021.627651. PMID: 33936041Free 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
Voigt A, Semenova T, Yamamoto J, Etienne V, Nguyen CQ
Adv Exp Med Biol 2018;1068:89-102. doi: 10.1007/978-981-13-0502-3_8. PMID: 29943298Free PMC Article
Vincent FB, Saulep-Easton D, Figgett WA, Fairfax KA, Mackay F
Cytokine Growth Factor Rev 2013 Jun;24(3):203-15. Epub 2013 May 15 doi: 10.1016/j.cytogfr.2013.04.003. PMID: 23684423Free PMC Article
Berkman SA, Lee ML, Gale RP
Ann Intern Med 1990 Feb 15;112(4):278-92. doi: 10.7326/0003-4819-112-4-278. PMID: 2404449

Prognosis

Daza-Cajigal V, Segura-Guerrero M, López-Cueto M, Robles-Marhuenda Á, Camara C, Gerra-Galán T, Gómez-de-la-Torre R, Avendaño-Monje CL, Sánchez-Ramón S, Bosque-Lopez MJ, Quintero-Duarte A, Bonet-Vidal ML, Pons J
Front Immunol 2023;14:1197361. Epub 2023 Jun 5 doi: 10.3389/fimmu.2023.1197361. PMID: 37342345Free PMC Article
Gaggiano C, Maselli A, Sfikakis PP, Laskari K, Ragab G, Hegazy MT, Laymouna AH, Lopalco G, Almaghlouth IA, Asfina KN, Alahmed O, Giardini Mayrink HA, Parente de Brito Antonelli I, Cattalini M, Piga M, Sota J, Gentileschi S, Maggio MC, Opris-Belinski D, Hatemi G, Insalaco A, Olivieri AN, Tufan A, Karadeniz H, Kardaş RC, La Torre F, Cardinale F, Marino A, Guerriero S, Ruscitti P, Tarsia M, Vitale A, Caggiano V, Telesca S, Iannone F, Parretti V, Frassi M, Aragona E, Ciccia F, Wiesik-Szewczyk E, Ionescu R, Şahin A, Akkoç N, Hinojosa-Azaola A, Tharwat S, Hernández-Rodríguez J, Espinosa G, Conti G, Del Giudice E, Govoni M, Emmi G, Fabiani C, Balistreri A, Frediani B, Rigante D, Cantarini L; AIDA Network
Intern Emerg Med 2023 Apr;18(3):743-754. Epub 2023 Mar 7 doi: 10.1007/s11739-023-03215-w. PMID: 36881285Free PMC Article
Popa C, Fischer R, Kurbitaeva S, Ravakhah K
South Med J 2022 Aug;115(8):593-596. doi: 10.14423/SMJ.0000000000001424. PMID: 35922044
Hogendorf A, Zieliński M, Constantinou M, Śmigiel R, Wierzba J, Wyka K, Wędrychowicz A, Jakubiuk-Tomaszuk A, Budzynska E, Piotrowicz M, Lipska-Ziętkiewicz BS, Kaczorowska E, Cieślikowska A, Kutkowska-Kaźmierczak A, Fijak-Moskal J, Kugaudo M, Kosińska-Urbańska M, Szadkowska A, Borowiec M, Niedźwiecki M, Trzonkowski P, Młynarski W
Front Immunol 2021;12:742834. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.742834. PMID: 34867966Free 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

Clinical prediction guides

Gurnari C, Pascale MR, Vitale A, Diral E, Tomelleri A, Galossi E, Falconi G, Bruno A, Crisafulli F, Frassi M, Cattaneo C, Bertoli D, Bernardi M, Condorelli A, Morsia E, Poloni A, Crisà E, Caravelli D, Triggianese P, Brussino L, Battipaglia G, Bindoli S, Sfriso P, Caroni F, Dragani M, Mallegni F, Pilo F, Firinu D, Curti A, Papayannidis C, Olivieri A, Kordasti S, Albano F, Pane F, Musto P, Bocchia M, Lugli E, Breccia M, Frigeni M, Dagna L, Greco R, Franceschini F, Campochiaro C, Cantarini L, Voso MT
Am J Hematol 2024 Feb;99(2):254-262. Epub 2023 Dec 18 doi: 10.1002/ajh.27169. PMID: 38108611
Ghannam A, Gharacholou SM, Ball CT, Pollak PM, Parikh PP, Landolfo C, Ali MT, Landolfo K
Am J Cardiol 2022 Jun 15;173:100-105. Epub 2022 Mar 30 doi: 10.1016/j.amjcard.2022.02.049. PMID: 35367046
Sefer AP, Abolhassani H, Ober F, Kayaoglu B, Bilgic Eltan S, Kara A, Erman B, Surucu Yilmaz N, Aydogmus C, Aydemir S, Charbonnier LM, Kolukisa B, Azizi G, Delavari S, Momen T, Aliyeva S, Kendir Demirkol Y, Tekin S, Kiykim A, Baser OF, Cokugras H, Gursel M, Karakoc-Aydiner E, Ozen A, Krappmann D, Chatila TA, Rezaei N, Baris S
J Clin Immunol 2022 Apr;42(3):634-652. Epub 2022 Jan 26 doi: 10.1007/s10875-021-01191-4. PMID: 35079916
Hogendorf A, Zieliński M, Constantinou M, Śmigiel R, Wierzba J, Wyka K, Wędrychowicz A, Jakubiuk-Tomaszuk A, Budzynska E, Piotrowicz M, Lipska-Ziętkiewicz BS, Kaczorowska E, Cieślikowska A, Kutkowska-Kaźmierczak A, Fijak-Moskal J, Kugaudo M, Kosińska-Urbańska M, Szadkowska A, Borowiec M, Niedźwiecki M, Trzonkowski P, Młynarski W
Front Immunol 2021;12:742834. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.742834. PMID: 34867966Free PMC Article
Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Stray-Pedersen A, Pedroza LA, Poli MC, Aldave-Becerra JC, McGhee SA, Al-Herz W, Chamdin A, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Cao TN, Hong DN, Gibbs RA, Lupski JR, Orange JS, McClain KL, Allen CE
Blood 2018 Jul 5;132(1):89-100. Epub 2018 Apr 9 doi: 10.1182/blood-2017-11-814244. PMID: 29632024Free PMC Article

Recent systematic reviews

Khalaji A, Behnoush AH, Shobeiri P, Saeedian B, Teixeira AL, Rezaei N
Sleep Breath 2023 Jun;27(3):829-841. Epub 2022 Sep 17 doi: 10.1007/s11325-022-02707-x. PMID: 36115874
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
Hessami A, Shamshirian A, Heydari K, Pourali F, Alizadeh-Navaei R, Moosazadeh M, Abrotan S, Shojaie L, Sedighi S, Shamshirian D, Rezaei N
Am J Emerg Med 2021 Aug;46:382-391. Epub 2020 Oct 16 doi: 10.1016/j.ajem.2020.10.022. PMID: 33268238Free PMC Article
Aryan Z, Rezaei N, Camargo CA Jr
Int Rev Immunol 2017 Jan 2;36(1):41-53. Epub 2017 Jan 19 doi: 10.1080/08830185.2016.1272600. PMID: 28102718
Wolach O, Bairey O, Lahav M
Medicine (Baltimore) 2010 Sep;89(5):308-318. doi: 10.1097/MD.0b013e3181f2caef. PMID: 20827108

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