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Immunodeficiency 70(IMD70)

MedGen UID:
1740270
Concept ID:
C5436501
Disease or Syndrome
Synonyms: IMD70; IMMUNODEFICIENCY 70
 
Gene (location): IVNS1ABP (1q25.3)
 
Monarch Initiative: MONDO:0033542
OMIM®: 618969

Definition

Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections, such as sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia has also been observed (summary by Thaventhiran et al., 2020). [from OMIM]

Clinical features

From HPO
Chronic fatigue
MedGen UID:
760077
Concept ID:
C0518656
Finding
Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.
Verrucae
MedGen UID:
777120
Concept ID:
C3665596
Finding
Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
Palmar warts
MedGen UID:
1715513
Concept ID:
C5397992
Disease or Syndrome
Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).
Colitis
MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.
Achalasia
MedGen UID:
5023
Concept ID:
C0014848
Disease or Syndrome
A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Celiac disease
MedGen UID:
3291
Concept ID:
C0007570
Disease or Syndrome
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.
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.
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Furuncle
MedGen UID:
66060
Concept ID:
C0242301
Disease or Syndrome
An infection of a hair follicle that extends subcutaneously, forming an abscess.
B lymphocytopenia
MedGen UID:
340780
Concept ID:
C1855067
Finding
An abnormal decrease from the normal count of B cells.
Decreased circulating total IgA
MedGen UID:
871140
Concept ID:
C4025611
Finding
Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).
Decreased circulating antibody level
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
Decreased circulating total IgG
MedGen UID:
1692727
Concept ID:
C5139151
Finding
A reduction beneath the normal level of total immunoglobulin G (IgG) in the 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.
Plantar wart
MedGen UID:
53003
Concept ID:
C0042548
Disease or Syndrome
Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).
Retinal vasculitis
MedGen UID:
57503
Concept ID:
C0152026
Disease or Syndrome
Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion.

Professional guidelines

Recent clinical studies

Etiology

SeyedAlinaghi S, Karimi A, Barzegary A, Mojdeganlou H, Vahedi F, Mirghaderi SP, Shobeiri P, Ramezani M, Yousefi Konjdar P, Mirzapour P, Tantuoyir MM, Mehraeen E, Dadras O, Voltarelli F
Eur J Med Res 2022 Oct 8;27(1):195. doi: 10.1186/s40001-022-00824-7. PMID: 36209202Free PMC Article
Christou EAA, Giardino G, Stefanaki E, Ladomenou F
Int Rev Immunol 2019;38(2):70-78. Epub 2019 Apr 2 doi: 10.1080/08830185.2019.1588267. PMID: 30939053
Suarez-Cuartin G, Chalmers JD, Sibila O
Respir Med 2016 Jul;116:70-7. Epub 2016 May 17 doi: 10.1016/j.rmed.2016.05.014. PMID: 27296824
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E
J Allergy Clin Immunol 2012 Jul;130(1):177-83. Epub 2012 Jun 2 doi: 10.1016/j.jaci.2012.04.029. PMID: 22664165
Klimas N, Koneru AO, Fletcher MA
Psychosom Med 2008 Jun;70(5):523-30. doi: 10.1097/PSY.0b013e31817ae69f. PMID: 18541903

Diagnosis

Long A, Kleiner A, Looney RJ
J Allergy Clin Immunol 2023 Jan;151(1):70-80. doi: 10.1016/j.jaci.2022.11.001. PMID: 36608984
Mayampurath A, Ajith A, Anderson-Smits C, Chang SC, Brouwer E, Johnson J, Baltasi M, Volchenboum S, Devercelli G, Ciaccio CE
J Allergy Clin Immunol Pract 2022 Nov;10(11):3002-3007.e5. Epub 2022 Sep 13 doi: 10.1016/j.jaip.2022.08.041. PMID: 36108921
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
Suarez-Cuartin G, Chalmers JD, Sibila O
Respir Med 2016 Jul;116:70-7. Epub 2016 May 17 doi: 10.1016/j.rmed.2016.05.014. PMID: 27296824
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E
J Allergy Clin Immunol 2012 Jul;130(1):177-83. Epub 2012 Jun 2 doi: 10.1016/j.jaci.2012.04.029. PMID: 22664165

Therapy

Delany-Moretlwe S, Hughes JP, Bock P, Ouma SG, Hunidzarira P, Kalonji D, Kayange N, Makhema J, Mandima P, Mathew C, Spooner E, Mpendo J, Mukwekwerere P, Mgodi N, Ntege PN, Nair G, Nakabiito C, Nuwagaba-Biribonwoha H, Panchia R, Singh N, Siziba B, Farrior J, Rose S, Anderson PL, Eshleman SH, Marzinke MA, Hendrix CW, Beigel-Orme S, Hosek S, Tolley E, Sista N, Adeyeye A, Rooney JF, Rinehart A, Spreen WR, Smith K, Hanscom B, Cohen MS, Hosseinipour MC; HPTN 084 study group
Lancet 2022 May 7;399(10337):1779-1789. Epub 2022 Apr 1 doi: 10.1016/S0140-6736(22)00538-4. PMID: 35378077Free PMC Article
Wasserman RL
Allergy Asthma Proc 2021 Nov 1;42(6):489-494. doi: 10.2500/aap.2021.42.210082. PMID: 34871156
Gulick RM, Flexner C
Annu Rev Med 2019 Jan 27;70:137-150. Epub 2018 Oct 24 doi: 10.1146/annurev-med-041217-013717. PMID: 30355266
Woo SB, Lee SJ, Schubert MM
Crit Rev Oral Biol Med 1997;8(2):201-16. doi: 10.1177/10454411970080020701. PMID: 9167093
Shelton MJ, O'Donnell AM, Morse GD
Ann Pharmacother 1993 Apr;27(4):480-9. doi: 10.1177/106002809302700416. PMID: 8097417

Prognosis

SeyedAlinaghi S, Karimi A, Barzegary A, Mojdeganlou H, Vahedi F, Mirghaderi SP, Shobeiri P, Ramezani M, Yousefi Konjdar P, Mirzapour P, Tantuoyir MM, Mehraeen E, Dadras O, Voltarelli F
Eur J Med Res 2022 Oct 8;27(1):195. doi: 10.1186/s40001-022-00824-7. PMID: 36209202Free PMC Article
Abu Khalaf S, Dandachi D, Granwehr BP, Rodriguez-Barradas MC
J Investig Med 2022 Apr;70(4):883-891. Epub 2022 Jan 27 doi: 10.1136/jim-2021-002205. PMID: 35086858
Shah ASV, Stelzle D, Lee KK, Beck EJ, Alam S, Clifford S, Longenecker CT, Strachan F, Bagchi S, Whiteley W, Rajagopalan S, Kottilil S, Nair H, Newby DE, McAllister DA, Mills NL
Circulation 2018 Sep 11;138(11):1100-1112. doi: 10.1161/CIRCULATIONAHA.117.033369. PMID: 29967196Free PMC Article
Suarez-Cuartin G, Chalmers JD, Sibila O
Respir Med 2016 Jul;116:70-7. Epub 2016 May 17 doi: 10.1016/j.rmed.2016.05.014. PMID: 27296824
Schneider RF
Semin Respir Infect 1999 Dec;14(4):327-32. PMID: 10638512

Clinical prediction guides

SeyedAlinaghi S, Karimi A, Barzegary A, Mojdeganlou H, Vahedi F, Mirghaderi SP, Shobeiri P, Ramezani M, Yousefi Konjdar P, Mirzapour P, Tantuoyir MM, Mehraeen E, Dadras O, Voltarelli F
Eur J Med Res 2022 Oct 8;27(1):195. doi: 10.1186/s40001-022-00824-7. PMID: 36209202Free PMC Article
Mayampurath A, Ajith A, Anderson-Smits C, Chang SC, Brouwer E, Johnson J, Baltasi M, Volchenboum S, Devercelli G, Ciaccio CE
J Allergy Clin Immunol Pract 2022 Nov;10(11):3002-3007.e5. Epub 2022 Sep 13 doi: 10.1016/j.jaip.2022.08.041. PMID: 36108921
Christou EAA, Giardino G, Stefanaki E, Ladomenou F
Int Rev Immunol 2019;38(2):70-78. Epub 2019 Apr 2 doi: 10.1080/08830185.2019.1588267. PMID: 30939053
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E
J Allergy Clin Immunol 2012 Jul;130(1):177-83. Epub 2012 Jun 2 doi: 10.1016/j.jaci.2012.04.029. PMID: 22664165
Johnson WD Jr, Pape JW
Immunol Ser 1989;44:65-78. PMID: 2489126

Recent systematic reviews

Wang W, Zhao S, Wu Y, Duan W, Li S, Li Z, Guo C, Wang W, Zhang T, Wu H, Huang X
JMIR Public Health Surveill 2023 Jul 27;9:e46767. doi: 10.2196/46767. PMID: 37498645Free PMC Article
Wu S, Wang J, Guo Q, Lan H, Sun Y, Ren M, Liu Y, Wang P, Wang L, Su R, Zhang J, Chen Y, Li G
Clin Microbiol Infect 2023 Aug;29(8):1000-1007. Epub 2023 Mar 13 doi: 10.1016/j.cmi.2023.03.002. PMID: 36921717
Sultana ZZ, Hoque FU, Beyene J, Akhlak-Ul-Islam M, Khan MHR, Ahmed S, Hawlader DH, Hossain A
BMC Infect Dis 2021 Jan 11;21(1):51. doi: 10.1186/s12879-020-05749-2. PMID: 33430786Free PMC Article
Martinez-Zapata MJ, Vernooij RW, Simancas-Racines D, Uriona Tuma SM, Stein AT, Moreno Carriles RMM, Vargas E, Bonfill Cosp X
Cochrane Database Syst Rev 2020 Nov 3;11(11):CD003229. doi: 10.1002/14651858.CD003229.pub4. PMID: 33141449Free PMC Article
Fonner VA, Dalglish SL, Kennedy CE, Baggaley R, O'Reilly KR, Koechlin FM, Rodolph M, Hodges-Mameletzis I, Grant RM
AIDS 2016 Jul 31;30(12):1973-83. doi: 10.1097/QAD.0000000000001145. PMID: 27149090Free PMC Article

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