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Immunodeficiency 104(IMD104)

MedGen UID:
1801019
Concept ID:
C5676890
Disease or Syndrome
Synonyms: IMMUNODEFICIENCY 104, SEVERE COMBINED; 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

Severe combined 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

Ethics Committee of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org
Fertil Steril 2021 Apr;115(4):860-869. doi: 10.1016/j.fertnstert.2021.01.024. PMID: 33832741
Ethics Committee of American Society for Reproductive Medicine
Fertil Steril 2015 Jul;104(1):e1-8. Epub 2015 May 5 doi: 10.1016/j.fertnstert.2015.04.004. PMID: 25956374
Von Roenn JH, Cianfrocca M
Cancer Treat Res 2001;104:127-48. PMID: 11191125

Recent clinical studies

Etiology

Singh RK
J Assoc Physicians India 2023 Oct;71(10):104-105. doi: 10.59556/japi.71.0357. PMID: 38716538
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
Ethics Committee of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org
Fertil Steril 2021 Apr;115(4):860-869. doi: 10.1016/j.fertnstert.2021.01.024. PMID: 33832741
Benton TD
Curr Psychiatry Rep 2010 Apr;12(2):104-10. doi: 10.1007/s11920-010-0092-z. PMID: 20425294
Arndt SD
Am J Med 1997 May 19;102(5B):104-5. doi: 10.1016/s0002-9343(97)00071-5. PMID: 9845509

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
Brennan A, Morley D, O'Leary AC, Bergin CJ, Horgan M
AIDS Behav 2015 Jan;19(1):104-19. doi: 10.1007/s10461-014-0814-z. PMID: 24907780
Jackson A, Hosseinipour MC
Curr HIV/AIDS Rep 2010 Aug;7(3):134-42. doi: 10.1007/s11904-010-0052-6. PMID: 20532838
Misra A, Gupta R, Broor SL, Puri SK
Indian J Gastroenterol 1998 Jul-Sep;17(3):104-5. PMID: 9695392
Foltzer MA, Guiney WB Jr, Wager GC, Alpern HD
Chest 1993 Sep;104(3):973-5. doi: 10.1378/chest.104.3.973. PMID: 8365330

Therapy

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
Robinson HL
Clin Pharmacol Ther 2018 Dec;104(6):1062-1073. Epub 2018 Oct 9 doi: 10.1002/cpt.1208. PMID: 30099743Free PMC Article
Jaggers JR
Nurs Clin North Am 2018 Mar;53(1):1-11. doi: 10.1016/j.cnur.2017.09.003. PMID: 29362054
Gray GE, Laher F, Lazarus E, Ensoli B, Corey L
Curr Opin Virol 2016 Apr;17:104-109. Epub 2016 Mar 15 doi: 10.1016/j.coviro.2016.02.010. PMID: 26985884Free PMC Article
Arndt SD
Am J Med 1997 May 19;102(5B):104-5. doi: 10.1016/s0002-9343(97)00071-5. PMID: 9845509

Prognosis

Huang KY, Kao HJ, Weng TH, Chen CH, Weng SL
Brief Bioinform 2022 Nov 19;23(6) doi: 10.1093/bib/bbac406. PMID: 36215051
Ismail A, Sibisi S, Pather S
Am J Trop Med Hyg 2021 Feb 3;104(2):410-411. doi: 10.4269/ajtmh.20-1097. PMID: 33534733Free PMC Article
Benton TD
Curr Psychiatry Rep 2010 Apr;12(2):104-10. doi: 10.1007/s11920-010-0092-z. PMID: 20425294
Feller L, Wood NH, Lemmer J
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Oct;104(4):455-60. Epub 2007 Jun 29 doi: 10.1016/j.tripleo.2007.02.001. PMID: 17604657
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
Huang KY, Kao HJ, Weng TH, Chen CH, Weng SL
Brief Bioinform 2022 Nov 19;23(6) doi: 10.1093/bib/bbac406. PMID: 36215051
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
Wali N, Renzaho A, Wang X, Atkins B, Bhattacharya D
AIDS Care 2021 Nov;33(11):1379-1393. Epub 2020 Aug 27 doi: 10.1080/09540121.2020.1811198. PMID: 32847386
Benton TD
Curr Psychiatry Rep 2010 Apr;12(2):104-10. doi: 10.1007/s11920-010-0092-z. PMID: 20425294

Recent systematic reviews

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
Kashangura R, Jullien S, Garner P, Johnson S
Cochrane Database Syst Rev 2019 Apr 30;4(4):CD012915. doi: 10.1002/14651858.CD012915.pub2. PMID: 31038197Free PMC Article
Brennan A, Morley D, O'Leary AC, Bergin CJ, Horgan M
AIDS Behav 2015 Jan;19(1):104-19. doi: 10.1007/s10461-014-0814-z. PMID: 24907780
Grollman C, Ronsmans C
Trop Med Int Health 2014 Jan;19(1):83-97. doi: 10.1111/tmi.12226. PMID: 24851260

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