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Immunodeficiency due to Functional Defects

MedGen UID:
1780510
•Concept ID:
C5447360
•
Disease or Syndrome

Definition

An indication that an immunodeficiency disorder is caused by the presence of immune cells that are dysfunctional. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency due to Functional Defects

Professional guidelines

PubMed

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.
Biggs SE, Gilchrist B, May KR
Curr Allergy Asthma Rep 2023 Apr;23(4):213-222. Epub 2023 Mar 10 doi: 10.1007/s11882-023-01071-4. PMID: 36897497Free PMC Article
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505
Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.
Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681

Recent clinical studies

Etiology

Primary and secondary defects of the thymus.
Dinges SS, Amini K, Notarangelo LD, Delmonte OM
Immunol Rev 2024 Mar;322(1):178-211. Epub 2024 Jan 16 doi: 10.1111/imr.13306. PMID: 38228406Free PMC Article
Flow cytometry for B-cell subset analysis in immunodeficiencies.
Kumánovics A, Sadighi Akha AA
J Immunol Methods 2022 Oct;509:113327. Epub 2022 Aug 5 doi: 10.1016/j.jim.2022.113327. PMID: 35934071
Secondary Immune Deficiency and Primary Immune Deficiency Crossovers: Hematological Malignancies and Autoimmune Diseases.
Ballow M, Sánchez-Ramón S, Walter JE
Front Immunol 2022;13:928062. Epub 2022 Jul 18 doi: 10.3389/fimmu.2022.928062. PMID: 35924244Free PMC Article
Monogenic Adult-Onset Inborn Errors of Immunity.
Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, Humblet-Baron S, Liston A, Vanderschueren S, Schrijvers R
Front Immunol 2021;12:753978. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.753978. PMID: 34867986Free PMC Article
Flow cytometry-based diagnosis of primary immunodeficiency diseases.
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198

Diagnosis

Flow cytometry for B-cell subset analysis in immunodeficiencies.
Kumánovics A, Sadighi Akha AA
J Immunol Methods 2022 Oct;509:113327. Epub 2022 Aug 5 doi: 10.1016/j.jim.2022.113327. PMID: 35934071
Monogenic Adult-Onset Inborn Errors of Immunity.
Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, Humblet-Baron S, Liston A, Vanderschueren S, Schrijvers R
Front Immunol 2021;12:753978. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.753978. PMID: 34867986Free PMC Article
Approach to primary immunodeficiency.
Devonshire AL, Makhija M
Allergy Asthma Proc 2019 Nov 1;40(6):465-469. doi: 10.2500/aap.2019.40.4273. PMID: 31690396Free PMC Article
Primary immunodeficiency and autoimmunity: A comprehensive review.
Amaya-Uribe L, Rojas M, Azizi G, Anaya JM, Gershwin ME
J Autoimmun 2019 May;99:52-72. Epub 2019 Feb 20 doi: 10.1016/j.jaut.2019.01.011. PMID: 30795880
Flow cytometry-based diagnosis of primary immunodeficiency diseases.
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198

Therapy

Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
Systemic lupus erythematosus and immunodeficiency.
Sawada T, Fujimori D, Yamamoto Y
Immunol Med 2019 Mar;42(1):1-9. Epub 2019 Jun 17 doi: 10.1080/25785826.2019.1628466. PMID: 31204893
Secondary antibody deficiencies.
Dhalla F, Misbah SA
Curr Opin Allergy Clin Immunol 2015 Dec;15(6):505-13. doi: 10.1097/ACI.0000000000000215. PMID: 26406183
IL-17 and infections.
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490
Primary immunodeficiencies.
Cooper MA, Pommering TL, Korányi K
Am Fam Physician 2003 Nov 15;68(10):2001-8. PMID: 14655810

Prognosis

Severe combined immunodeficiency diagnosis and genetic defects.
Aranda CS, Gouveia-Pereira MP, da Silva CJM, Rizzo MCFV, Ishizuka E, de Oliveira EB, Condino-Neto A
Immunol Rev 2024 Mar;322(1):138-147. Epub 2024 Jan 29 doi: 10.1111/imr.13310. PMID: 38287514
Hyper IgE Syndromes.
Gracci S, Novelli T, D'Elios S, Bernardini R, Peroni D
Curr Pediatr Rev 2024;20(3):253-264. doi: 10.2174/1573396320666230912103124. PMID: 37702167
Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505
Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.
Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681

Clinical prediction guides

Chromatin regulator SMARCAL1 modulates cellular lipid metabolism.
Nagai TH, Hartigan C, Mizoguchi T, Yu H, Deik A, Bullock K, Wang Y, Cromley D, Schenone M, Cowan CA, Rader DJ, Clish CB, Carr SA, Xu YX
Commun Biol 2023 Dec 21;6(1):1298. doi: 10.1038/s42003-023-05665-6. PMID: 38129665Free PMC Article
WHIM Syndrome-linked CXCR4 mutations drive osteoporosis.
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
IL-17 and infections.
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490
DOCK8 deficiency.
Su HC, Jing H, Zhang Q
Ann N Y Acad Sci 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. PMID: 22236427
Hyper-IgE syndrome.
Minegishi Y
Curr Opin Immunol 2009 Oct;21(5):487-92. Epub 2009 Aug 28 doi: 10.1016/j.coi.2009.07.013. PMID: 19717292

Recent systematic reviews

Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.
Banday AZ, Nisar R, Patra PK, Kaur A, Sadanand R, Chaudhry C, Bukhari STA, Banday SZ, Bhattarai D, Notarangelo LD
J Clin Immunol 2023 Dec 22;44(1):17. doi: 10.1007/s10875-023-01633-1. PMID: 38129705Free PMC Article
A systematic review regarding the prevalence of malignancy in patients with the hyper-IgE syndrome.
Mohammadi T, Azizi G, Rafiemanesh H, Farahani P, Nirouei M, Tavakol M
Clin Exp Med 2023 Dec;23(8):4835-4859. Epub 2023 Nov 4 doi: 10.1007/s10238-023-01228-5. PMID: 37924455
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM
Front Immunol 2021;12:671755. Epub 2021 Aug 10 doi: 10.3389/fimmu.2021.671755. PMID: 34447369Free PMC Article
Hematological findings and complications of COVID-19.
Terpos E, Ntanasis-Stathopoulos I, Elalamy I, Kastritis E, Sergentanis TN, Politou M, Psaltopoulou T, Gerotziafas G, Dimopoulos MA
Am J Hematol 2020 Jul;95(7):834-847. Epub 2020 May 23 doi: 10.1002/ajh.25829. PMID: 32282949Free PMC Article
Cough in Ambulatory Immunocompromised Adults: CHEST Expert Panel Report.
Rosen MJ, Ireland B, Narasimhan M, French C, Irwin RS; CHEST Expert Cough Panel
Chest 2017 Nov;152(5):1038-1042. Epub 2017 Aug 19 doi: 10.1016/j.chest.2017.07.039. PMID: 28830820Free PMC Article

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