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Immunodeficiency 18(IMD18)

MedGen UID:: 816457
•Concept ID:: C3810127
•: Disease or Syndrome

Synonyms:	CD3-EPSILON DEFICIENCY; CD3epsilon deficiency; IMD18

Gene (location): Gene(s) directly associated with this condition or phenotype.	CD3E (11q23.3)

Monarch Initiative:	MONDO:0014278
OMIM®:	615615

Definition

Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004). [from OMIM]

Clinical features

From HPO

Recurrent gastroenteritis

MedGen UID:: 815158
•Concept ID:: C3808828
•: Finding

Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.

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Recurrent pneumonia

MedGen UID:: 195802
•Concept ID:: C0694550
•: Disease or Syndrome

An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.

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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.

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.

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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 total IgM

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

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

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Abnormal lymphocyte count

MedGen UID:: 663425
•Concept ID:: C0580550
•: Finding

Any abnormality in the total number of lymphocytes in the blood.

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Recurrent otitis media

MedGen UID:: 155436
•Concept ID:: C0747085
•: Disease or Syndrome

Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.

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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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Abnormal B cell count

MedGen UID:: 866853
•Concept ID:: C4021208
•: Finding

A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.

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Defective T cell proliferation

MedGen UID:: 868165
•Concept ID:: C4022557
•: Cell or Molecular Dysfunction

A reduced ability of a T cell population to expand by cell division following T cell activation.

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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).

See: Feature record | Search on this feature

Decreased proportion of CD3-positive T cells

MedGen UID:: 1369785
•Concept ID:: C4477053
•: Finding

Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.

See: Feature record | Search on this feature

Decreased proportion of CD4-positive T cells

MedGen UID:: 1698933
•Concept ID:: C5139203
•: Finding

A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.

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Abnormal circulating IgG level

MedGen UID:: 1687987
•Concept ID:: C5139422
•: Finding

An abnormal deviation from normal levels of IgG immunoglobulin in blood.

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Abnormality of the digestive system
- Recurrent gastroenteritis
Abnormality of the immune system
Abnormality of the respiratory system
- Recurrent pneumonia
- Recurrent respiratory infections

Professional guidelines

PubMed

Clinical and Laboratory Characteristics of Primary Immunodeficiency Patients from a Tertiary Care Center in Pakistan.

Tipu HN, Ahmed D
J Pak Med Assoc 2020 Dec;70(12(B)):2403-2407. doi: 10.47391/JPMA.512. PMID: 33475552

Primary immunodeficiency diseases in Latin America: first report from eight countries participating in the LAGID. Latin American Group for Primary Immunodeficiency Diseases.

Zelazko M, Carneiro-Sampaio M, Cornejo de Luigi M, Garcia de Olarte D, Porras Madrigal O, Berrón Perez R, Cabello A, Rostan MV, Sorensen RU
J Clin Immunol 1998 Mar;18(2):161-6. doi: 10.1023/a:1023255102170. PMID: 9533660

See all (2)

Recent clinical studies

Etiology

Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.

Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586 Free PMC Article

HIV and liver disease.

Navarro J
AIDS Rev 2022;25(2):87-96. doi: 10.24875/AIDSRev.M22000052. PMID: 35901073

Therapeutic options for CTLA-4 insufficiency.

Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Lorenz HM, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim YJ, Bakhtiar S, Atschekzei F, Schmidt R, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králíčková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B
J Allergy Clin Immunol 2022 Feb;149(2):736-746. Epub 2021 Jun 7 doi: 10.1016/j.jaci.2021.04.039. PMID: 34111452

Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.

Platt CD, Zaman F, Bainter W, Stafstrom K, Almutairi A, Reigle M, Weeks S, Geha RS, Chou J; International Consortium for Immunodeficiencies
J Allergy Clin Immunol 2021 Feb;147(2):723-726. Epub 2020 Sep 2 doi: 10.1016/j.jaci.2020.08.022. PMID: 32888943 Free 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: 28118533 Free PMC Article

See all (24169)

Diagnosis

Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.

Common Variable Immunodeficiency: More Pathways than Roads to Rome.

Peng XP, Caballero-Oteyza A, Grimbacher B
Annu Rev Pathol 2023 Jan 24;18:283-310. Epub 2022 Oct 20 doi: 10.1146/annurev-pathmechdis-031521-024229. PMID: 36266261

Therapeutic options for CTLA-4 insufficiency.

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.

Aluri J, Bach A, Kaviany S, Chiquetto Paracatu L, Kitcharoensakkul M, Walkiewicz MA, Putnam CD, Shinawi M, Saucier N, Rizzi EM, Harmon MT, Keppel MP, Ritter M, Similuk M, Kulm E, Joyce M, de Jesus AA, Goldbach-Mansky R, Lee YS, Cella M, Kendall PL, Dinauer MC, Bednarski JJ, Bemrich-Stolz C, Canna SW, Abraham SM, Demczko MM, Powell J, Jones SM, Scurlock AM, De Ravin SS, Bleesing JJ, Connelly JA, Rao VK, Schuettpelz LG, Cooper MA
Blood 2021 May 6;137(18):2450-2462. doi: 10.1182/blood.2020009620. PMID: 33512449 Free PMC Article

Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.

See all (12594)

Therapy

Immunoglobulin replacement in hematological malignancies: a focus on evidence, alternatives, dosing strategy, and cessation rule.

Sim B, Ng JY, Teh BW, Talaulikar D
Leuk Lymphoma 2023 Jan;64(1):18-29. Epub 2022 Oct 11 doi: 10.1080/10428194.2022.2131424. PMID: 36218218

Breast implant illness: scientific evidence of its existence.

Cohen Tervaert JW, Mohazab N, Redmond D, van Eeden C, Osman M
Expert Rev Clin Immunol 2022 Jan;18(1):15-29. Epub 2022 Jan 5 doi: 10.1080/1744666X.2022.2010546. PMID: 34882509

Second- and Third-line Antiretroviral Therapy for Children and Adolescents: A Scoping Review.

Lazarus E, Nicol S, Frigati L, Penazzato M, Cotton MF, Centeno-Tablante E, Violari A, Nicol L
Pediatr Infect Dis J 2017 May;36(5):492-499. doi: 10.1097/INF.0000000000001481. PMID: 28403052

Efficacy and Safety of Subcutaneous Belimumab in Systemic Lupus Erythematosus: A Fifty-Two-Week Randomized, Double-Blind, Placebo-Controlled Study.

Considerations for the optimal use of immunoglobulin.

Navarro RP, Ballow M, Fenrick B, Pezalla EJ
Am J Manag Care 2012 Jun;18(4 Suppl):S67-78. PMID: 22774920

See all (15219)

Prognosis

Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.

Immunoglobulin replacement in hematological malignancies: a focus on evidence, alternatives, dosing strategy, and cessation rule.

Sim B, Ng JY, Teh BW, Talaulikar D
Leuk Lymphoma 2023 Jan;64(1):18-29. Epub 2022 Oct 11 doi: 10.1080/10428194.2022.2131424. PMID: 36218218

Waldenström macroglobulinemia and relationship to immune deficiency.

Levy A, Guidez S, Debiais C, Princet I, Bouyer S, Dindinaud E, Delwail V, Systchenko T, Moya N, Gruchet C, Sabirou F, Bobin A, Gardeney H, Nsiala L, Cailly L, Olivier G, Motard C, Fleck E, Corby A, Roul C, Denis G, Dieval C, Leleu X, Tomowiak C
Leuk Lymphoma 2021 Nov;62(11):2665-2670. Epub 2021 Jun 4 doi: 10.1080/10428194.2021.1907379. PMID: 34085595

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.

Very early onset IBD: novel genetic aetiologies.

Batura V, Muise AM
Curr Opin Allergy Clin Immunol 2018 Dec;18(6):470-480. doi: 10.1097/ACI.0000000000000486. PMID: 30299396

See all (9267)

Clinical prediction guides

Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.

Immunoglobulin replacement in hematological malignancies: a focus on evidence, alternatives, dosing strategy, and cessation rule.

Sim B, Ng JY, Teh BW, Talaulikar D
Leuk Lymphoma 2023 Jan;64(1):18-29. Epub 2022 Oct 11 doi: 10.1080/10428194.2022.2131424. PMID: 36218218

Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.

Bonnekoh H, Butze M, Kallinich T, Kambe N, Kokolakis G, Krause K
Acta Derm Venereol 2020 Mar 25;100(7):adv00091. doi: 10.2340/00015555-3427. PMID: 32147748 Free PMC Article

Efficacy and Safety of Subcutaneous Belimumab in Systemic Lupus Erythematosus: A Fifty-Two-Week Randomized, Double-Blind, Placebo-Controlled Study.

Treatment of hairy-cell leukemia.

Lill MC, Golde DW
Blood Rev 1990 Dec;4(4):238-44. doi: 10.1016/0268-960x(90)90003-b. PMID: 1706207

See all (11545)

Recent systematic reviews

HIV-associated infective native aortic aneurysms.

Jönsson A, Ljungquist O, Sörelius K
APMIS 2023 Jan;131(1):3-12. Epub 2022 Oct 1 doi: 10.1111/apm.13273. PMID: 36106509

Epidemiology of anal human papillomavirus infection and high-grade squamous intraepithelial lesions in 29 900 men according to HIV status, sexuality, and age: a collaborative pooled analysis of 64 studies.

Wei F, Gaisa MM, D'Souza G, Xia N, Giuliano AR, Hawes SE, Gao L, Cheng SH, Donà MG, Goldstone SE, Schim van der Loeff MF, Neukam K, Meites E, Poynten IM, Dai J, Combes JD, Wieland U, Burgos J, Wilkin TJ, Hernandez AL, Iribarren Díaz M, Hidalgo-Tenorio C, Valencia Arredondo M, Nyitray AG, Wentzensen N, Chow EP, Smelov V, Nowak RG, Phanuphak N, Woo YL, Choi Y, Hu Y, Schofield AM, Woestenberg PJ, Chikandiwa AT, Hickey AC, de Pokomandy A, Murenzi G, Péré H, Del Pino M, Ortiz AP, Charnot-Katsikas A, Liu X, Chariyalertsak S, Strong C, Ong JJ, Yunihastuti E, Etienney I, Ferré VM, Zou H, Segondy M, Chinyowa S, Alberts CJ, Clifford GM
Lancet HIV 2021 Sep;8(9):e531-e543. Epub 2021 Jul 30 doi: 10.1016/S2352-3018(21)00108-9. PMID: 34339628 Free PMC Article

The prevalence of depression among adolescent with HIV/AIDS: a systematic review and meta-analysis.

Ayano G, Demelash S, Abraha M, Tsegay L
AIDS Res Ther 2021 Apr 27;18(1):23. doi: 10.1186/s12981-021-00351-1. PMID: 33906698 Free PMC Article

HIV and HPV infections and ocular surface squamous neoplasia: systematic review and meta-analysis.

Carreira H, Coutinho F, Carrilho C, Lunet N
Br J Cancer 2013 Oct 1;109(7):1981-8. Epub 2013 Sep 12 doi: 10.1038/bjc.2013.539. PMID: 24030075 Free PMC Article

Immune reconstitution inflammatory syndrome in patients starting antiretroviral therapy for HIV infection: a systematic review and meta-analysis.

Müller M, Wandel S, Colebunders R, Attia S, Furrer H, Egger M; IeDEA Southern and Central Africa
Lancet Infect Dis 2010 Apr;10(4):251-61. doi: 10.1016/S1473-3099(10)70026-8. PMID: 20334848 Free PMC Article

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MedGen

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Immunodeficiency 18(IMD18)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

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