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Immunodeficiency 25(IMD25)

MedGen UID:
346666
Concept ID:
C1857798
Disease or Syndrome
Synonyms: Immunodeficiency due to defect in cd3-zeta; Immunodeficiency due to defect in cd3-zeta, somatic
 
Gene (location): CD247 (1q24.2)
 
Monarch Initiative: MONDO:0012426
OMIM®: 610163

Definition

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene. [from MONDO]

Clinical features

From HPO
Protracted diarrhea
MedGen UID:
141631
Concept ID:
C0473133
Disease or Syndrome
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.
Autoimmune hemolytic anemia
MedGen UID:
1918
Concept ID:
C0002880
Disease or Syndrome
An autoimmune form of hemolytic anemia.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Eosinophilia
MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
Increased count of eosinophils in the blood.
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.
Increased circulating IgE concentration
MedGen UID:
116018
Concept ID:
C0236175
Finding
An abnormally increased overall level of immunoglobulin E in blood.
Increased circulating IgA concentration
MedGen UID:
66800
Concept ID:
C0239984
Finding
An abnormally increased level of immunoglobulin A in blood.
Anti-smooth muscle antibody positivity
MedGen UID:
116117
Concept ID:
C0241185
Laboratory or Test Result
The presence in serum of antibodies against smooth muscle.
Increased circulating IgM level
MedGen UID:
333454
Concept ID:
C1839972
Finding
An abnormally increased level of immunoglobulin M in blood.
Increased circulating IgG concentration
MedGen UID:
347032
Concept ID:
C1858977
Finding
An abnormally increased level of immunoglobulin G in blood.
Recurrent candida infections
MedGen UID:
348028
Concept ID:
C1860128
Finding
An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.
T lymphocytopenia
MedGen UID:
419385
Concept ID:
C2931322
Finding
An abnormally low count of T cells.
Antimitochondrial antibody positivity
MedGen UID:
866704
Concept ID:
C4021051
Finding
The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.
Decreased circulating IgG2 concentration
MedGen UID:
867187
Concept ID:
C4021545
Finding
A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.
Recurrent herpes
MedGen UID:
870750
Concept ID:
C4025207
Finding
Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.
Complete or near-complete absence of specific antibody response to tetanus vaccine
MedGen UID:
1687415
Concept ID:
C5139458
Finding
The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.

Professional guidelines

PubMed

Tuddenham S, Hamill MM, Ghanem KG
JAMA 2022 Jan 11;327(2):161-172. doi: 10.1001/jama.2021.23487. PMID: 35015033
Drozd B, Andriescu E, Suárez A, De la Garza Bravo MM
Dermatol Online J 2019 Jan 15;25(1) PMID: 30710895
European AIDS Treatment Network (NEAT) Acute Hepatitis C Infection Consensus Panel
AIDS 2011 Feb 20;25(4):399-409. doi: 10.1097/QAD.0b013e328343443b. PMID: 21139491

Recent clinical studies

Etiology

Agress A, Oprea Y, Roy S, Strauch C, Rosenstreich D, Ferastraoaru D
J Allergy Clin Immunol Pract 2024 Jan;12(1):185-194. Epub 2023 Oct 19 doi: 10.1016/j.jaip.2023.10.026. PMID: 37863316
Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S; ESID Registry Working Party and collaborators
J Allergy Clin Immunol Pract 2019 Jul-Aug;7(6):1763-1770. Epub 2019 Feb 15 doi: 10.1016/j.jaip.2019.02.004. PMID: 30776527
van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP
Clin Immunol 2017 May;178:45-55. Epub 2017 Jan 24 doi: 10.1016/j.clim.2017.01.009. PMID: 28126470
Lanternier F, Cypowyj S, Picard C, Bustamante J, Lortholary O, Casanova JL, Puel A
Curr Opin Pediatr 2013 Dec;25(6):736-47. doi: 10.1097/MOP.0000000000000031. PMID: 24240293Free PMC Article
Mamlock RJ
Prim Care 1998 Dec;25(4):739-58. doi: 10.1016/s0095-4543(05)70085-3. PMID: 9735116

Diagnosis

Temfack E, Boyer-Chammard T, Lawrence D, Delliere S, Loyse A, Lanternier F, Alanio A, Lortholary O
Curr Neurol Neurosci Rep 2019 Oct 31;19(10):81. doi: 10.1007/s11910-019-0993-0. PMID: 31673881
Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S; ESID Registry Working Party and collaborators
J Allergy Clin Immunol Pract 2019 Jul-Aug;7(6):1763-1770. Epub 2019 Feb 15 doi: 10.1016/j.jaip.2019.02.004. PMID: 30776527
van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP
Clin Immunol 2017 May;178:45-55. Epub 2017 Jan 24 doi: 10.1016/j.clim.2017.01.009. PMID: 28126470
Mamlock RJ
Prim Care 1998 Dec;25(4):739-58. doi: 10.1016/s0095-4543(05)70085-3. PMID: 9735116
Wilson CB, Dixon FJ
Annu Rev Med 1974;25:83-98. doi: 10.1146/annurev.me.25.020174.000503. PMID: 4274754

Therapy

Waters L, Hassan Wada Y, Barber TJ
HIV Med 2024 Feb;25(2):168-173. Epub 2023 Oct 23 doi: 10.1111/hiv.13563. PMID: 37872882
Temfack E, Boyer-Chammard T, Lawrence D, Delliere S, Loyse A, Lanternier F, Alanio A, Lortholary O
Curr Neurol Neurosci Rep 2019 Oct 31;19(10):81. doi: 10.1007/s11910-019-0993-0. PMID: 31673881
Berliner N
Hematol Oncol Clin North Am 2011 Feb;25(1):xiii. doi: 10.1016/j.hoc.2010.12.001. PMID: 21236385
Bernstein A
Science 2008 May 9;320(5877):717. doi: 10.1126/science.1159797. PMID: 18467559
Wilson CB, Dixon FJ
Annu Rev Med 1974;25:83-98. doi: 10.1146/annurev.me.25.020174.000503. PMID: 4274754

Prognosis

Jacobson EU, Hicks KA, Carrico J, Purcell DW, Green TA, Mermin JH, Farnham PG
J Acquir Immune Defic Syndr 2022 Apr 1;89(4):374-380. doi: 10.1097/QAI.0000000000002885. PMID: 35202046Free PMC Article
Ochs HD, Melamed I, Borte M, Moy JN, Pyringer B, D Kobayashi AL, Knutsen AP, Smits W, Pituch-Noworolska A, Kobayashi RH
Immunotherapy 2018 Oct;10(14):1193-1202. Epub 2018 Aug 8 doi: 10.2217/imt-2018-0074. PMID: 30088423
van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP
Clin Immunol 2017 May;178:45-55. Epub 2017 Jan 24 doi: 10.1016/j.clim.2017.01.009. PMID: 28126470
Bonacci RA, Holtgrave DR
AIDS Behav 2016 Jul;20(7):1383-9. doi: 10.1007/s10461-016-1416-8. PMID: 27129453
Mamlock RJ
Prim Care 1998 Dec;25(4):739-58. doi: 10.1016/s0095-4543(05)70085-3. PMID: 9735116

Clinical prediction guides

Sarrou S, Voulgaridi I, Fousika A, Dadouli K, Margaritopoulou O, Kakkas I, Hadjichristodoulou C, Kalala F, Speletas M
Int J Mol Sci 2024 May 15;25(10) doi: 10.3390/ijms25105382. PMID: 38791420Free PMC Article
Anginot A, Nguyen J, Abou Nader Z, Rondeau V, Bonaud A, Kalogeraki M, Boutin A, Lemos JP, Bisio V, Koenen J, Hanna Doumit Sakr L, Picart A, Coudert A, Provot S, Dulphy N, Aurrand-Lions M, Mancini SJC, Lazennec G, McDermott DH, Guidez F, Blin-Wakkach C, Murphy PM, Cohen-Solal M, Espéli M, Rouleau M, Balabanian K
Nat Commun 2023 Apr 12;14(1):2058. doi: 10.1038/s41467-023-37791-4. PMID: 37045841Free PMC Article
Ho DD, Bieniasz PD
Cell 2008 May 16;133(4):561-5. doi: 10.1016/j.cell.2008.05.003. PMID: 18485860
Kaplan LD
Baillieres Clin Haematol 1990 Jan;3(1):139-51. doi: 10.1016/s0950-3536(05)80085-x. PMID: 2182138
Betts RF, Hanshaw JB
Annu Rev Med 1977;28:103-10. doi: 10.1146/annurev.me.28.020177.000535. PMID: 193429

Recent systematic reviews

Pereira M, Santos Aleluia IR, de Castro CT, de Almeida Oliveira T, Cunha MS, Magno L, Dourado I, Barreto F, Natividade M, Appiah SCY, Abade E, Paixao ES, de Souza MLT
AIDS Behav 2024 Jul;28(7):2193-2204. Epub 2024 May 7 doi: 10.1007/s10461-024-04351-w. PMID: 38713281
Mokgalaboni K, Phoswa WN, Yates S, Lebelo SL, Madiba S, Modjadji P
Int J Environ Res Public Health 2023 Apr 27;20(9) doi: 10.3390/ijerph20095668. PMID: 37174188Free PMC Article
O Murchu E, Marshall L, Teljeur C, Harrington P, Hayes C, Moran P, Ryan M
BMJ Open 2022 May 11;12(5):e048478. doi: 10.1136/bmjopen-2020-048478. PMID: 35545381Free PMC Article
Abdel-Wahab N, Lopez-Olivo MA, Pinto-Patarroyo GP, Suarez-Almazor ME
Lupus 2016 Dec;25(14):1520-1531. Epub 2016 Apr 7 doi: 10.1177/0961203316640912. PMID: 27060064Free PMC Article
Namale PE, Abdullahi LH, Fine S, Kamkuemah M, Wilkinson RJ, Meintjes G
Future Microbiol 2015;10(6):1077-99. doi: 10.2217/fmb.15.9. PMID: 26059627

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