U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Immunodeficiency 104(IMD104)

MedGen UID:
1801019
Concept ID:
C5676890
Disease or Syndrome
Synonyms: SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE; Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3D-Related; Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3E-Related; Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, IL7R-Related; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
 
Gene (location): IL7R (5p13.2)
 
Monarch Initiative: MONDO:0012163
OMIM®: 608971

Definition

Immunodeficiency-104 (IMD104) is an autosomal recessive disorder characterized by the onset of recurrent infections in early infancy. Manifestations may include oral thrush, fever, and failure to thrive. Some patients have lymphadenopathy and hepatosplenomegaly, whereas others have absence of lymph nodes and lack a thymic shadow. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, variable hypogammaglobulinemia, and normal NK cells. The disorder is caused by a defect in IL7 (146660) signaling due to a mutant IL7 receptor. Hematopoietic stem cell transplantation may be curative (Roifman et al., 2000 and Giliani et al., 2005). Giliani et al. (2005) provided a detailed review of IL7R deficiency, including discussion of the IL7R gene and its function in the immune system, clinical features of the disorder, and experiences with hematopoietic stem cell transplant as treatment. For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457. [from OMIM]

Clinical features

From HPO
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Chronic mucocutaneous candidiasis
MedGen UID:
2426
Concept ID:
C0006845
Disease or Syndrome
Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
Eczematoid dermatitis
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Otitis media
MedGen UID:
45253
Concept ID:
C0029882
Disease or Syndrome
Inflammation or infection of the middle ear.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Severe combined immunodeficiency disease
MedGen UID:
88328
Concept ID:
C0085110
Disease or Syndrome
A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargement (swelling) of a lymph node.
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.
Failure to thrive secondary to recurrent infections
MedGen UID:
321936
Concept ID:
C1832323
Finding
Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.
Recurrent opportunistic infections
MedGen UID:
330439
Concept ID:
C1832324
Finding
Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.
T lymphocytopenia
MedGen UID:
419385
Concept ID:
C2931322
Finding
An abnormally low count of T cells.
Oral ulcer
MedGen UID:
57699
Concept ID:
C0149745
Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.

Professional guidelines

PubMed

Vijayan V, Naeem F, Veesenmeyer AF
Am Fam Physician 2021 Jul 1;104(1):58-62. PMID: 34264604
Rahman M, Rahman S, Reza MM, Khan SI, Sarker MS
Int J Infect Dis 2021 Mar;104:150-158. Epub 2020 Dec 30 doi: 10.1016/j.ijid.2020.12.037. PMID: 33359062
de Almeida Neto C, McFarland W, Murphy EL, Chen S, Nogueira FA, Mendrone A Jr, Salles NA, Chamone DA, Sabino EC
Transfusion 2007 Apr;47(4):608-14. doi: 10.1111/j.1537-2995.2007.01161.x. PMID: 17381618

Recent clinical studies

Etiology

Kühle AJ, Patsche CB, Fløe A, Sifna A, Gomes V, Wejse C, Rudolf F
Int J Tuberc Lung Dis 2022 Jul 1;26(7):664-670. doi: 10.5588/ijtld.21.0483. PMID: 35768921
Segal-Maurer S, DeJesus E, Stellbrink HJ, Castagna A, Richmond GJ, Sinclair GI, Siripassorn K, Ruane PJ, Berhe M, Wang H, Margot NA, Dvory-Sobol H, Hyland RH, Brainard DM, Rhee MS, Baeten JM, Molina JM; CAPELLA Study Investigators
N Engl J Med 2022 May 12;386(19):1793-1803. doi: 10.1056/NEJMoa2115542. PMID: 35544387
Batisai K
SAHARA J 2016 Dec;13(1):113-22. doi: 10.1080/17290376.2016.1220323. PMID: 27538792Free PMC Article
Arndt SD
Am J Med 1997 May 19;102(5B):104-5. doi: 10.1016/s0002-9343(97)00071-5. PMID: 9845509
Duesberg PH
Proc Natl Acad Sci U S A 1989 Feb;86(3):755-64. doi: 10.1073/pnas.86.3.755. PMID: 2644642Free PMC Article

Diagnosis

de-Mendoza C, Pérez L, Rando A, Reina G, Aguilera A, Benito R, Eirós JM, Rodríguez-Avial I, Ortega D, Pozuelo MJ, Pena MJ, Soriano V; Spanish HTLV Network
J Clin Virol 2023 Dec;169:105619. Epub 2023 Nov 21 doi: 10.1016/j.jcv.2023.105619. PMID: 38000189
Kühle AJ, Patsche CB, Fløe A, Sifna A, Gomes V, Wejse C, Rudolf F
Int J Tuberc Lung Dis 2022 Jul 1;26(7):664-670. doi: 10.5588/ijtld.21.0483. PMID: 35768921
Ngcobo SJ, Mchunu GG
Curationis 2019 Jun 10;42(1):e1-e11. doi: 10.4102/curationis.v42i1.1928. PMID: 31291729Free PMC Article
Yendewa GA, Poveda E, Yendewa SA, Sahr F, Quiñones-Mateu ME, Salata RA
AIDS Rev 2018 Apr-Jun;20(2):104-113. doi: 10.24875/AIDSRev.M18000022. PMID: 29938704
Goldberg DE, Smithen LM, Angelilli A, Freeman WR
Retina 2005 Jul-Aug;25(5):633-49; quiz 682-3. doi: 10.1097/00006982-200507000-00015. PMID: 16077362

Therapy

Llibre JM, Brites C, Cheng CY, Osiyemi O, Galera C, Hocqueloux L, Maggiolo F, Degen O, Taylor S, Blair E, Man C, Wynne B, Oyee J, Underwood M, Curtis L, Bontempo G, van Wyk J
Clin Infect Dis 2023 Feb 18;76(4):720-729. doi: 10.1093/cid/ciac130. PMID: 35235656Free PMC Article
Segal-Maurer S, DeJesus E, Stellbrink HJ, Castagna A, Richmond GJ, Sinclair GI, Siripassorn K, Ruane PJ, Berhe M, Wang H, Margot NA, Dvory-Sobol H, Hyland RH, Brainard DM, Rhee MS, Baeten JM, Molina JM; CAPELLA Study Investigators
N Engl J Med 2022 May 12;386(19):1793-1803. doi: 10.1056/NEJMoa2115542. PMID: 35544387
Phanuphak N, Ramautarsing R, Chinbunchorn T, Janamnuaysook R, Pengnonyang S, Termvanich K, Chanlearn P, Linjongrat D, Janyam S, Phanuphak P
Curr HIV/AIDS Rep 2020 Oct;17(5):422-430. doi: 10.1007/s11904-020-00516-z. PMID: 32725317Free PMC Article
Robinson HL
Clin Pharmacol Ther 2018 Dec;104(6):1062-1073. Epub 2018 Oct 9 doi: 10.1002/cpt.1208. PMID: 30099743Free PMC Article
D'Onofrio G, O'Connor PG, Pantalon MV, Chawarski MC, Busch SH, Owens PH, Bernstein SL, Fiellin DA
JAMA 2015 Apr 28;313(16):1636-44. doi: 10.1001/jama.2015.3474. PMID: 25919527Free PMC Article

Prognosis

Bassat Q, Blau DM, Ogbuanu IU, Samura S, Kaluma E, Bassey IA, Sow S, Keita AM, Tapia MD, Mehta A, Kotloff KL, Rahman A, Islam KM, Alam M, El Arifeen S, Gurley ES, Baillie V, Mutevedzi P, Mahtab S, Thwala BN, Tippett Barr BA, Onyango D, Akelo V, Rogena E, Onyango P, Omore R, Mandomando I, Ajanovic S, Varo R, Sitoe A, Duran-Frigola M, Assefa N, Scott JAG, Madrid L, Tesfaye T, Dessie Y, Madewell ZJ, Breiman RF, Whitney CG, Madhi SA; Child Health and Mortality Prevention Surveillance (CHAMPS) Network
JAMA Netw Open 2023 Jul 3;6(7):e2322494. doi: 10.1001/jamanetworkopen.2023.22494. PMID: 37494044Free PMC Article
Kühle AJ, Patsche CB, Fløe A, Sifna A, Gomes V, Wejse C, Rudolf F
Int J Tuberc Lung Dis 2022 Jul 1;26(7):664-670. doi: 10.5588/ijtld.21.0483. PMID: 35768921
McColl ER, Kojovic D, Piquette-Miller M
Clin Pharmacol Ther 2018 Dec;104(6):1042-1046. doi: 10.1002/cpt.1202. PMID: 30412658
Lederman MM
Thromb Haemost 2010 Nov;104(5):911-4. Epub 2010 Aug 5 doi: 10.1160/TH10-02-0096. PMID: 20694275Free PMC Article
Le Gall JR, Lemeshow S, Saulnier F
JAMA 1993 Dec 22-29;270(24):2957-63. doi: 10.1001/jama.270.24.2957. PMID: 8254858

Clinical prediction guides

Llibre JM, Brites C, Cheng CY, Osiyemi O, Galera C, Hocqueloux L, Maggiolo F, Degen O, Taylor S, Blair E, Man C, Wynne B, Oyee J, Underwood M, Curtis L, Bontempo G, van Wyk J
Clin Infect Dis 2023 Feb 18;76(4):720-729. doi: 10.1093/cid/ciac130. PMID: 35235656Free PMC Article
Segal-Maurer S, DeJesus E, Stellbrink HJ, Castagna A, Richmond GJ, Sinclair GI, Siripassorn K, Ruane PJ, Berhe M, Wang H, Margot NA, Dvory-Sobol H, Hyland RH, Brainard DM, Rhee MS, Baeten JM, Molina JM; CAPELLA Study Investigators
N Engl J Med 2022 May 12;386(19):1793-1803. doi: 10.1056/NEJMoa2115542. PMID: 35544387
Yuan L, Tian S, Zhao Z, Liu P, Liu L, Sun J
BMC Med Inform Decis Mak 2022 Apr 16;22(1):104. doi: 10.1186/s12911-022-01825-6. PMID: 35429984Free PMC Article
Louis AG, Gupta S
Clin Rev Allergy Immunol 2014 Apr;46(2):104-11. doi: 10.1007/s12016-013-8375-x. PMID: 23760686
Lederman MM
Thromb Haemost 2010 Nov;104(5):911-4. Epub 2010 Aug 5 doi: 10.1160/TH10-02-0096. PMID: 20694275Free PMC Article

Recent systematic reviews

Perazzo H, Castro R, Villela-Nogueira C, Torres M, Silva SL, Cardoso SW, Grinsztejn B, Veloso VG
J Viral Hepat 2023 Nov;30(11):838-847. Epub 2023 Jul 23 doi: 10.1111/jvh.13876. PMID: 37485619
Kokay W, Power E, McGrath M
Arch Phys Med Rehabil 2023 Jan;104(1):108-118. Epub 2022 Aug 13 doi: 10.1016/j.apmr.2022.07.018. PMID: 35973583
Essouma M, Nkeck JR, Agbor VN, Noubiap JJ
J Clin Rheumatol 2022 Mar 1;28(2):104-110. doi: 10.1097/RHU.0000000000001830. PMID: 35067513
Davlidova S, Haley-Johnson Z, Nyhan K, Farooq A, Vermund SH, Ali S
Int J Infect Dis 2021 Mar;104:510-525. Epub 2020 Dec 29 doi: 10.1016/j.ijid.2020.12.068. PMID: 33385583Free PMC Article
Boulware DR, Daley CL, Merrifield C, Hopewell PC, Janoff EN
J Infect 2007 Oct;55(4):300-9. Epub 2007 Aug 10 doi: 10.1016/j.jinf.2007.06.014. PMID: 17692384Free 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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...