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Immunodeficiency 26 without neurologic abnormalities

MedGen UID:
865135
•Concept ID:
C4016698
•
Finding
Synonym: IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES
 
OMIM®: 600899

Recent clinical studies

Etiology

Higher prevalence of stunting and poor growth outcomes in HIV-exposed uninfected than HIV-unexposed infants in Kenya.
Neary J, Langat A, Singa B, Kinuthia J, Itindi J, Nyaboe E, Ng'anga' LW, Katana A, John-Stewart GC, McGrath CJ
AIDS 2022 Mar 15;36(4):605-610. doi: 10.1097/QAD.0000000000003124. PMID: 34750290Free PMC Article
Neurological Findings in Children without Congenital Microcephaly Exposed to Zika Virus in Utero: A Case Series Study.
Abtibol-Bernardino MR, de Almeida Peixoto LFA, de Oliveira GA, de Almeida TF, Rodrigues GRI, Otani RH, Soares Chaves BC, de Souza Rodrigues C, de Andrade ABCA, de Fatima Redivo E, Fernandes SS, da Costa Castilho M, Gomes Benzecry S, Bôtto-Menezes C, Martinez-Espinosa FE, Costa Alecrim MDG
Viruses 2020 Nov 20;12(11) doi: 10.3390/v12111335. PMID: 33233769Free PMC Article
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Garrelfs MR, Takada S, Kamsteeg EJ, Pegge S, Mancini G, Engelen M, van de Warrenburg B, Rennings A, van Gaalen J, Peters I, Weemaes C, van der Burg M, Willemsen MA
Pediatr Neurol 2020 Dec;113:26-32. Epub 2020 Jul 28 doi: 10.1016/j.pediatrneurol.2020.07.014. PMID: 32980744
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H
Brain 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. PMID: 26917586Free PMC Article
Early neurologic abnormalities associated with human T-cell lymphotropic virus type 1 infection in a cohort of Peruvian children.
Kendall EA, González E, Espinoza I, Tipismana M, Verdonck K, Clark D, Vermund SH, Gotuzzo E
J Pediatr 2009 Nov;155(5):700-6. Epub 2009 Jul 22 doi: 10.1016/j.jpeds.2009.05.027. PMID: 19628219Free PMC Article

Diagnosis

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
Neurological Findings in Children without Congenital Microcephaly Exposed to Zika Virus in Utero: A Case Series Study.
Abtibol-Bernardino MR, de Almeida Peixoto LFA, de Oliveira GA, de Almeida TF, Rodrigues GRI, Otani RH, Soares Chaves BC, de Souza Rodrigues C, de Andrade ABCA, de Fatima Redivo E, Fernandes SS, da Costa Castilho M, Gomes Benzecry S, Bôtto-Menezes C, Martinez-Espinosa FE, Costa Alecrim MDG
Viruses 2020 Nov 20;12(11) doi: 10.3390/v12111335. PMID: 33233769Free PMC Article
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Garrelfs MR, Takada S, Kamsteeg EJ, Pegge S, Mancini G, Engelen M, van de Warrenburg B, Rennings A, van Gaalen J, Peters I, Weemaes C, van der Burg M, Willemsen MA
Pediatr Neurol 2020 Dec;113:26-32. Epub 2020 Jul 28 doi: 10.1016/j.pediatrneurol.2020.07.014. PMID: 32980744
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H
Brain 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. PMID: 26917586Free PMC Article
Neurologic complications of human immunodeficiency virus-type 1 infection.
Kim HJ, Kim S, Lee KB, Lee KW, Oh MD, Choe KW
J Korean Med Sci 2003 Apr;18(2):149-57. doi: 10.3346/jkms.2003.18.2.149. PMID: 12692408Free PMC Article

Therapy

Cerebrospinal fluid HIV escape associated with progressive neurologic dysfunction in patients on antiretroviral therapy with well controlled plasma viral load.
Peluso MJ, Ferretti F, Peterson J, Lee E, Fuchs D, Boschini A, Gisslén M, Angoff N, Price RW, Cinque P, Spudich S
AIDS 2012 Sep 10;26(14):1765-74. doi: 10.1097/QAD.0b013e328355e6b2. PMID: 22614889Free PMC Article
Cerebral MR imaging in uninfected children born to HIV-seropositive mothers and perinatally exposed to zidovudine.
Tardieu M, Brunelle F, Raybaud C, Ball W, Barret B, Pautard B, Lachassine E, Mayaux MJ, Blanche S
AJNR Am J Neuroradiol 2005 Apr;26(4):695-701. PMID: 15814907Free PMC Article
Neurodevelopmental outcomes of Ugandan infants with human immunodeficiency virus type 1 infection.
Drotar D, Olness K, Wiznitzer M, Guay L, Marum L, Svilar G, Hom D, Fagan JF, Ndugwa C, Kiziri-Mayengo R
Pediatrics 1997 Jul;100(1):E5. doi: 10.1542/peds.100.1.e5. PMID: 9200379
2',3'-dideoxycytidine (ddC) toxic neuropathy: a study of 52 patients.
Berger AR, Arezzo JC, Schaumburg HH, Skowron G, Merigan T, Bozzette S, Richman D, Soo W
Neurology 1993 Feb;43(2):358-62. doi: 10.1212/wnl.43.2.358. PMID: 8382349

Prognosis

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H
Brain 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. PMID: 26917586Free PMC Article
Neurologic manifestations of HIV infection: an Indian hospital-based study.
Teja VD, Talasila SR, Vemu L
AIDS Read 2005 Mar;15(3):139-43, C3. PMID: 15786577
Neurodevelopmental outcomes of Ugandan infants with human immunodeficiency virus type 1 infection.
Drotar D, Olness K, Wiznitzer M, Guay L, Marum L, Svilar G, Hom D, Fagan JF, Ndugwa C, Kiziri-Mayengo R
Pediatrics 1997 Jul;100(1):E5. doi: 10.1542/peds.100.1.e5. PMID: 9200379
Auditory P300 abnormalities and leukocyte activation in HIV infection.
Birdsall HH, Ozluoglu LN, Lew HL, Trial J, Brown DP, Wofford MJ, Jerger JF, Rossen RD
Otolaryngol Head Neck Surg 1994 Jan;110(1):53-9. doi: 10.1177/019459989411000106. PMID: 8290302

Clinical prediction guides

Higher prevalence of stunting and poor growth outcomes in HIV-exposed uninfected than HIV-unexposed infants in Kenya.
Neary J, Langat A, Singa B, Kinuthia J, Itindi J, Nyaboe E, Ng'anga' LW, Katana A, John-Stewart GC, McGrath CJ
AIDS 2022 Mar 15;36(4):605-610. doi: 10.1097/QAD.0000000000003124. PMID: 34750290Free PMC Article
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H
Brain 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. PMID: 26917586Free PMC Article
Study of bone marrow abnormalities in patients with HIV disease.
Tripathi AK, Kalra P, Misra R, Kumar A, Gupta N
J Assoc Physicians India 2005 Feb;53:105-10. PMID: 15847027
Cerebral MR imaging in uninfected children born to HIV-seropositive mothers and perinatally exposed to zidovudine.
Tardieu M, Brunelle F, Raybaud C, Ball W, Barret B, Pautard B, Lachassine E, Mayaux MJ, Blanche S
AJNR Am J Neuroradiol 2005 Apr;26(4):695-701. PMID: 15814907Free PMC Article
Neurodevelopmental outcomes of Ugandan infants with human immunodeficiency virus type 1 infection.
Drotar D, Olness K, Wiznitzer M, Guay L, Marum L, Svilar G, Hom D, Fagan JF, Ndugwa C, Kiziri-Mayengo R
Pediatrics 1997 Jul;100(1):E5. doi: 10.1542/peds.100.1.e5. PMID: 9200379

Recent systematic reviews

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article

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