U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Immunodeficiency 119(IMD119)

MedGen UID:
1859911
Concept ID:
C5935621
Disease or Syndrome
Synonyms: IMD119; IMMUNODEFICIENCY 119
 
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
Craig TJ, Bernstein JA, Farkas H, Bouillet L, Boccon-Gibod I
Int Arch Allergy Immunol 2014;165(2):119-27. Epub 2014 Nov 15 doi: 10.1159/000368404. PMID: 25401373

Recent clinical studies

Etiology

Bentivi JO, Azevedo CMPES, Lopes MKD, Rocha SCM, Silva PCRE, Costa VM, Costa ABS
J Pediatr (Rio J) 2020 Sep-Oct;96(5):537-545. Epub 2020 Jan 3 doi: 10.1016/j.jped.2019.11.003. PMID: 31904353Free PMC Article
Kwong J
Am J Nurs 2019 Sep;119(9):30-39. doi: 10.1097/01.NAJ.0000580156.27946.e4. PMID: 31408026
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
Evangeli M, Wroe AL
AIDS Behav 2017 Jan;21(1):1-11. doi: 10.1007/s10461-016-1453-3. PMID: 27406227Free PMC Article
Roxby AC, Unger JA, Slyker JA, Kinuthia J, Lewis A, John-Stewart G, Walson JL
Curr HIV/AIDS Rep 2014 Jun;11(2):119-27. doi: 10.1007/s11904-014-0203-2. PMID: 24659344Free PMC Article

Diagnosis

Trickey A, Sabin CA, Burkholder G, Crane H, d'Arminio Monforte A, Egger M, Gill MJ, Grabar S, Guest JL, Jarrin I, Lampe FC, Obel N, Reyes JM, Stephan C, Sterling TR, Teira R, Touloumi G, Wasmuth JC, Wit F, Wittkop L, Zangerle R, Silverberg MJ, Justice A, Sterne JAC
Lancet HIV 2023 May;10(5):e295-e307. Epub 2023 Mar 20 doi: 10.1016/S2352-3018(23)00028-0. PMID: 36958365Free PMC Article
Carrillo LF
Methods Mol Biol 2022;2422:271-281. doi: 10.1007/978-1-0716-1948-3_19. PMID: 34859413
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
Ballow M
Ann Allergy Asthma Immunol 2017 Oct;119(4):299-303. doi: 10.1016/j.anai.2017.07.020. PMID: 28958372
Dvorak CC, Cowan MJ
Bone Marrow Transplant 2008 Jan;41(2):119-26. Epub 2007 Oct 29 doi: 10.1038/sj.bmt.1705890. PMID: 17968328

Therapy

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
Kwong J
Am J Nurs 2019 Sep;119(9):30-39. doi: 10.1097/01.NAJ.0000580156.27946.e4. PMID: 31408026
Chupradit K, Moonmuang S, Nangola S, Kitidee K, Yasamut U, Mougel M, Tayapiwatana C
Viruses 2017 Sep 29;9(10) doi: 10.3390/v9100281. PMID: 28961190Free PMC Article
Ballow M
Ann Allergy Asthma Immunol 2017 Oct;119(4):299-303. doi: 10.1016/j.anai.2017.07.020. PMID: 28958372
Vogler MA, Singh H, Wright R
Curr HIV/AIDS Rep 2011 Jun;8(2):122-31. doi: 10.1007/s11904-011-0077-5. PMID: 21455746

Prognosis

Trickey A, Sabin CA, Burkholder G, Crane H, d'Arminio Monforte A, Egger M, Gill MJ, Grabar S, Guest JL, Jarrin I, Lampe FC, Obel N, Reyes JM, Stephan C, Sterling TR, Teira R, Touloumi G, Wasmuth JC, Wit F, Wittkop L, Zangerle R, Silverberg MJ, Justice A, Sterne JAC
Lancet HIV 2023 May;10(5):e295-e307. Epub 2023 Mar 20 doi: 10.1016/S2352-3018(23)00028-0. PMID: 36958365Free PMC Article
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
Dunleavy K, Wilson WH
Blood 2012 Apr 5;119(14):3245-55. Epub 2012 Feb 15 doi: 10.1182/blood-2011-08-373738. PMID: 22337719Free 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
Lacombe C, Aucouturier P, Preud'homme JL
Clin Immunol Immunopathol 1997 Aug;84(2):194-201. doi: 10.1006/clin.1997.4386. PMID: 9245552

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
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
Haukoos JS, White DAE, Rowan SE, Lyle C, Gravitz S, Basham K, Godoy A, Kamis K, Hopkins E, Anderson E
AIDS Patient Care STDS 2021 Jun;35(6):211-219. doi: 10.1089/apc.2021.0012. PMID: 34097464Free PMC Article
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
Lacombe C, Aucouturier P, Preud'homme JL
Clin Immunol Immunopathol 1997 Aug;84(2):194-201. doi: 10.1006/clin.1997.4386. PMID: 9245552

Recent systematic reviews

Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
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
Abd Hamid IJ, Azman NA, Gennery AR, Mangantig E, Hashim IF, Zainudeen ZT
Front Immunol 2020;11:1923. Epub 2020 Aug 26 doi: 10.3389/fimmu.2020.01923. PMID: 32983118Free 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
Evangeli M, Wroe AL
AIDS Behav 2017 Jan;21(1):1-11. doi: 10.1007/s10461-016-1453-3. PMID: 27406227Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...