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Immunodeficiency 119(IMD119)

MedGen UID:
1859911
Concept ID:
C5935621
Disease or Syndrome
Synonyms: IMD119; IMMUNODEFICIENCY 119
 
Gene (location): ICOSLG (21q22.3)
 
Monarch Initiative: MONDO:0970993
OMIM®: 620825

Definition

Immunodeficiency-119 (IMD119) is an autosomal recessive immunologic disorder characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. Laboratory studies show hypogammaglobulinemia, lymphopenia, reduced memory B cells, and neutropenia, resulting in altered adaptive immunity (Roussel et al., 2018). [from OMIM]

Clinical features

From HPO
Genital warts
MedGen UID:
40445
Concept ID:
C0009663
Disease or Syndrome
Warts affecting the skin in the genital area (penile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pedunculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress.
Myelodysplasia
MedGen UID:
10231
Concept ID:
C0026985
Congenital Abnormality
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Myelokathexis
MedGen UID:
543867
Concept ID:
C0272173
Disease or Syndrome
Impaired egress of mature neutrophils from bone marrow causing neutropenia.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
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.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Recurrent oral herpes
MedGen UID:
697662
Concept ID:
C1274321
Disease or Syndrome
Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.
Antineutrophil antibody positivity
MedGen UID:
395147
Concept ID:
C1858981
Laboratory or Test Result
The presence of autoantibodies in the serum that react against neutrophils.
Combined immunodeficiency
MedGen UID:
751396
Concept ID:
C2711630
Disease or Syndrome
A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.
Decreased circulating antibody concentration
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
Decreased proportion of class-switched memory B cells
MedGen UID:
892709
Concept ID:
C4072925
Finding
A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
Angular cheilitis
MedGen UID:
526202
Concept ID:
C0221237
Disease or Syndrome
A type of inflammation of the lips involving one or both of the corners of the mouth.

Professional guidelines

PubMed

Soler-Palacín P, de Gracia J, González-Granado LI, Martín C, Rodríguez-Gallego C, Sánchez-Ramón S; Lung ID-Signal Group
Respir Res 2018 Nov 12;19(1):219. doi: 10.1186/s12931-018-0923-8. PMID: 30419907Free PMC Article
Jellinger PS, Handelsman Y, Rosenblit PD, Bloomgarden ZT, Fonseca VA, Garber AJ, Grunberger G, Guerin CK, Bell DSH, Mechanick JI, Pessah-Pollack R, Wyne K, Smith D, Brinton EA, Fazio S, Davidson M
Endocr Pract 2017 Apr;23(Suppl 2):1-87. doi: 10.4158/EP171764.APPGL. PMID: 28437620
Bierman FZ
J Pediatr 1991 Jul;119(1 Pt 2):S53-6. doi: 10.1016/s0022-3476(05)81455-6. PMID: 2061760

Recent clinical studies

Etiology

Rudzinski K, King K, Guta A, Chan Carusone S, Strike C
Health Place 2023 Sep;83:103100. Epub 2023 Aug 16 doi: 10.1016/j.healthplace.2023.103100. PMID: 37595542
Drallmeier T, Meyr A
Mo Med 2022 May-Jun;119(3):219-224. PMID: 36035551Free PMC Article
Koh K, Tsuchiya M, Ishiura H, Shimazaki H, Nakamura T, Hara H, Suzuyama K, Takahashi M, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium
J Hum Genet 2022 Feb;67(2):119-121. Epub 2021 Sep 6 doi: 10.1038/s10038-021-00977-z. PMID: 34483340
Krishnamoorthy Y, Rehman T, Sakthivel M
AIDS Behav 2021 Mar;25(3):814-825. Epub 2020 Sep 23 doi: 10.1007/s10461-020-03038-2. PMID: 32968885
Kwong J
Am J Nurs 2019 Sep;119(9):30-39. doi: 10.1097/01.NAJ.0000580156.27946.e4. PMID: 31408026

Diagnosis

Carrillo LF
Methods Mol Biol 2022;2422:271-281. doi: 10.1007/978-1-0716-1948-3_19. PMID: 34859413
Koh K, Tsuchiya M, Ishiura H, Shimazaki H, Nakamura T, Hara H, Suzuyama K, Takahashi M, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium
J Hum Genet 2022 Feb;67(2):119-121. Epub 2021 Sep 6 doi: 10.1038/s10038-021-00977-z. PMID: 34483340
Ballow M
Ann Allergy Asthma Immunol 2017 Oct;119(4):299-303. doi: 10.1016/j.anai.2017.07.020. PMID: 28958372
Lin DD, Barker PB, Lederman HM, Crawford TO
AJNR Am J Neuroradiol 2014 Jan;35(1):119-23. Epub 2013 Jul 25 doi: 10.3174/ajnr.A3646. PMID: 23886747Free PMC Article
Upadhyay A, Jaber BL, Madias NE
Am J Med 2006 Jul;119(7 Suppl 1):S30-5. doi: 10.1016/j.amjmed.2006.05.005. PMID: 16843082

Therapy

Teixeira LAA, Santos B, Correia MG, Valiquette C, Bastos ML, Menzies D, Trajman A
Clin Infect Dis 2024 May 15;78(5):1321-1327. doi: 10.1093/cid/ciae101. PMID: 38407417
Hocqueloux L, Lefeuvre S, Bois J, Brucato S, Alix A, Valentin C, Peyro-Saint-Paul L, Got L, Fournel F, Dargere S, Prazuck T, Fournier A, Gregoire N, McNicholl I, Parienti JJ
J Antimicrob Chemother 2022 Dec 23;78(1):161-168. doi: 10.1093/jac/dkac369. PMID: 36322475Free PMC Article
Ballow M
Ann Allergy Asthma Immunol 2017 Oct;119(4):299-303. doi: 10.1016/j.anai.2017.07.020. PMID: 28958372
Coutinho C, Sarmento B, das Neves J
J Control Release 2017 Nov 28;266:119-128. Epub 2017 Sep 23 doi: 10.1016/j.jconrel.2017.09.030. PMID: 28951320
Blažek B, Misbah SA, Soler-Palacin P, McCoy B, Leibl H, Engl W, Empson V, Gelmont D, Nikolov N
Immunotherapy 2015;7(7):753-63. Epub 2015 Apr 13 doi: 10.2217/imt.15.30. PMID: 25865232

Prognosis

Teixeira LAA, Santos B, Correia MG, Valiquette C, Bastos ML, Menzies D, Trajman A
Clin Infect Dis 2024 May 15;78(5):1321-1327. doi: 10.1093/cid/ciae101. PMID: 38407417
Schmidt A, Groh AM, Frick JS, Vehreschild MJGT, Ludwig KU
Dtsch Arztebl Int 2022 Feb 25;119(8):117-123. doi: 10.3238/arztebl.m2022.0105. PMID: 35101171Free PMC Article
Kwong J
Am J Nurs 2019 Sep;119(9):30-39. doi: 10.1097/01.NAJ.0000580156.27946.e4. PMID: 31408026
Rajasingham R, Smith RM, Park BJ, Jarvis JN, Govender NP, Chiller TM, Denning DW, Loyse A, Boulware DR
Lancet Infect Dis 2017 Aug;17(8):873-881. Epub 2017 May 5 doi: 10.1016/S1473-3099(17)30243-8. PMID: 28483415Free PMC Article
Upadhyay A, Jaber BL, Madias NE
Am J Med 2006 Jul;119(7 Suppl 1):S30-5. doi: 10.1016/j.amjmed.2006.05.005. PMID: 16843082

Clinical prediction guides

Wang Z, Peters BA, Bryant M, Hanna DB, Schwartz T, Wang T, Sollecito CC, Usyk M, Grassi E, Wiek F, Peter LS, Post WS, Landay AL, Hodis HN, Weber KM, French A, Golub ET, Lazar J, Gustafson D, Sharma A, Anastos K, Clish CB, Burk RD, Kaplan RC, Knight R, Qi Q
Microbiome 2023 May 27;11(1):119. doi: 10.1186/s40168-023-01566-2. PMID: 37237391Free PMC Article
Hofman ZL, Relan A, Hack CE
Clin Rev Allergy Immunol 2016 Feb;50(1):34-40. doi: 10.1007/s12016-014-8463-6. PMID: 25527240
Houghton BC, Booth C, Thrasher AJ
Curr Opin Pharmacol 2015 Oct;24:119-27. Epub 2015 Sep 10 doi: 10.1016/j.coph.2015.08.007. PMID: 26363252
Valentin-Vega YA, Maclean KH, Tait-Mulder J, Milasta S, Steeves M, Dorsey FC, Cleveland JL, Green DR, Kastan MB
Blood 2012 Feb 9;119(6):1490-500. Epub 2011 Dec 5 doi: 10.1182/blood-2011-08-373639. PMID: 22144182Free PMC Article
Gras S, Kjer-Nielsen L, Burrows SR, McCluskey J, Rossjohn J
Curr Opin Immunol 2008 Feb;20(1):119-25. Epub 2008 Jan 18 doi: 10.1016/j.coi.2007.12.001. PMID: 18207719

Recent systematic reviews

Mirzohreh ST, Safarpour H, Pagheh AS, Bangoura B, Barac A, Ahmadpour E
Parasit Vectors 2022 Sep 14;15(1):324. doi: 10.1186/s13071-022-05432-2. PMID: 36104731Free PMC Article
Harichander S, Wiafe E, Mensah KB, Bangalee V, Oosthuizen F
Syst Rev 2022 Aug 4;11(1):157. doi: 10.1186/s13643-022-02023-1. PMID: 35927752Free PMC Article
Forrester JD, Cai LZ, Mbanje C, Rinderknecht TN, Wren SM
Trop Med Int Health 2017 Oct;22(10):1223-1232. Epub 2017 Aug 31 doi: 10.1111/tmi.12937. PMID: 28796388
Elmahdi R, Gerver SM, Gomez Guillen G, Fidler S, Cooke G, Ward H
Sex Transm Infect 2014 Mar;90(2):119-24. Epub 2014 Jan 9 doi: 10.1136/sextrans-2013-051312. PMID: 24412996Free PMC Article
Simoni JM, Montgomery A, Martin E, New M, Demas PA, Rana S
Pediatrics 2007 Jun;119(6):e1371-83. Epub 2007 May 28 doi: 10.1542/peds.2006-1232. PMID: 17533177Free PMC Article

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