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Abnormal T cell morphology

MedGen UID:
343416
Concept ID:
C1855752
Finding
Synonyms: Defective cellular immunity; T-cell abnormalities
 
HPO: HP:0002843

Definition

An abnormality of T cells. [from HPO]

Conditions with this feature

Schimke immuno-osseous dysplasia
MedGen UID:
164078
Concept ID:
C0877024
Congenital Abnormality
Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T-cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T-cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated.
Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome
MedGen UID:
349095
Concept ID:
C1859104
Disease or Syndrome
Agammaglobulinemia 6, autosomal recessive
MedGen UID:
461557
Concept ID:
C3150207
Disease or Syndrome
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.
Agammaglobulinemia 2, autosomal recessive
MedGen UID:
462100
Concept ID:
C3150750
Disease or Syndrome
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.
Agammaglobulinemia 3, autosomal recessive
MedGen UID:
462101
Concept ID:
C3150751
Disease or Syndrome
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.
Agammaglobulinemia 4, autosomal recessive
MedGen UID:
462102
Concept ID:
C3150752
Disease or Syndrome
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.
Okt4 epitope deficiency
MedGen UID:
462729
Concept ID:
C3151379
Disease or Syndrome
Agammaglobulinemia 7, autosomal recessive
MedGen UID:
767603
Concept ID:
C3554689
Disease or Syndrome
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.

Professional guidelines

PubMed

Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Chiang CP, Yu-Fong Chang J, Wang YP, Wu YH, Lu SY, Sun A
J Formos Med Assoc 2018 Sep;117(9):756-765. Epub 2018 Feb 19 doi: 10.1016/j.jfma.2018.01.021. PMID: 29472048
Giammarco S, Chiusolo P, Piccirillo N, Di Giovanni A, Metafuni E, Laurenti L, Sica S, Pagano L
Expert Rev Hematol 2017 Feb;10(2):147-154. Epub 2016 Dec 26 doi: 10.1080/17474086.2017.1270754. PMID: 27967252

Recent clinical studies

Etiology

Bontoux C, Simonin M, Garnier N, Lhermitte L, Touzart A, Andrieu G, Bruneau J, Lengliné E, Plesa A, Boissel N, Baruchel A, Bertrand Y, Molina TJ, Macintyre E, Asnafi V
Mod Pathol 2022 Sep;35(9):1227-1235. Epub 2022 May 13 doi: 10.1038/s41379-022-01085-9. PMID: 35562412
Shirakawa K, Sano M
Cells 2021 Sep 15;10(9) doi: 10.3390/cells10092435. PMID: 34572084Free PMC Article
Qiu J, Wu B, Goodman SB, Berry GJ, Goronzy JJ, Weyand CM
Front Immunol 2021;12:652771. Epub 2021 Apr 2 doi: 10.3389/fimmu.2021.652771. PMID: 33868292Free PMC Article
van Vliet C, Spagnolo DV
Pathology 2020 Jan;52(1):128-141. Epub 2019 Nov 11 doi: 10.1016/j.pathol.2019.10.001. PMID: 31727264
Sullivan KE
Immunol Rev 2019 Jan;287(1):186-201. doi: 10.1111/imr.12701. PMID: 30565249

Diagnosis

Bontoux C, Simonin M, Garnier N, Lhermitte L, Touzart A, Andrieu G, Bruneau J, Lengliné E, Plesa A, Boissel N, Baruchel A, Bertrand Y, Molina TJ, Macintyre E, Asnafi V
Mod Pathol 2022 Sep;35(9):1227-1235. Epub 2022 May 13 doi: 10.1038/s41379-022-01085-9. PMID: 35562412
Xu H, Zhu Z, Hu J, Sun J, Wo Y, Wang X, Zou H, Li B, Zhang Y
Cell Mol Immunol 2022 Apr;19(4):527-539. Epub 2022 Jan 17 doi: 10.1038/s41423-021-00834-1. PMID: 35039632Free PMC Article
van Vliet C, Spagnolo DV
Pathology 2020 Jan;52(1):128-141. Epub 2019 Nov 11 doi: 10.1016/j.pathol.2019.10.001. PMID: 31727264
Devonshire AL, Makhija M
Allergy Asthma Proc 2019 Nov 1;40(6):465-469. doi: 10.2500/aap.2019.40.4273. PMID: 31690396
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637

Therapy

Wang J, Xu Y, Chen Z, Liang J, Lin Z, Liang H, Xu Y, Wu Q, Guo X, Nie J, Lu B, Huang B, Xian H, Wang X, Wu Q, Zeng J, Chai C, Zhang M, Lin Y, Zhang L, Zhao S, Tong Y, Zeng L, Gu X, Chen ZG, Yi S, Zhang T, Delfouneso D, Zhang Y, Nutt SL, Lew AM, Lu L, Bai F, Xia H, Wen Z, Zhang Y
Cell 2020 Dec 23;183(7):1867-1883.e26. Epub 2020 Nov 27 doi: 10.1016/j.cell.2020.10.048. PMID: 33248023
Kanda N, Hoashi T, Saeki H
Int J Mol Sci 2020 Jul 29;21(15) doi: 10.3390/ijms21155405. PMID: 32751360Free PMC Article
Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Malamut G, Cellier C
Gastroenterol Clin North Am 2019 Mar;48(1):137-144. Epub 2018 Dec 13 doi: 10.1016/j.gtc.2018.09.010. PMID: 30711206
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637

Prognosis

Xu H, Zhu Z, Hu J, Sun J, Wo Y, Wang X, Zou H, Li B, Zhang Y
Cell Mol Immunol 2022 Apr;19(4):527-539. Epub 2022 Jan 17 doi: 10.1038/s41423-021-00834-1. PMID: 35039632Free PMC Article
Shirakawa K, Sano M
Cells 2021 Sep 15;10(9) doi: 10.3390/cells10092435. PMID: 34572084Free PMC Article
Kanda N, Hoashi T, Saeki H
Int J Mol Sci 2019 Sep 20;20(19) doi: 10.3390/ijms20194660. PMID: 31547021Free PMC Article
Malamut G, Cellier C
Gastroenterol Clin North Am 2019 Mar;48(1):137-144. Epub 2018 Dec 13 doi: 10.1016/j.gtc.2018.09.010. PMID: 30711206
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637

Clinical prediction guides

He W, Qian QW, Liu QY, Li YK, Miao Q, Wang QX, Ma X, You ZR, Tang RQ
J Dig Dis 2023 Mar;24(3):231-242. Epub 2023 Jun 21 doi: 10.1111/1751-2980.13174. PMID: 37155188
Peeters D, Pico-Knijnenburg I, Wieringa D, Rad M, Cuperus R, Ruige M, Froeling F, Zijp GW, van der Burg M, Driessen GJA
Front Immunol 2022;13:724436. Epub 2022 Feb 10 doi: 10.3389/fimmu.2022.724436. PMID: 35222360Free PMC Article
Robinson GA, Wilkinson MGL, Wincup C
Front Immunol 2021;12:806560. Epub 2022 Jan 26 doi: 10.3389/fimmu.2021.806560. PMID: 35154082Free PMC Article
Popovic PJ, Zeh HJ 3rd, Ochoa JB
J Nutr 2007 Jun;137(6 Suppl 2):1681S-1686S. doi: 10.1093/jn/137.6.1681S. PMID: 17513447
Ozawa M, Aiba S
Curr Drug Targets Inflamm Allergy 2004 Jun;3(2):137-44. doi: 10.2174/1568010043343868. PMID: 15180466

Recent systematic reviews

McEntire CRS, Fletcher A, Toledano M, Epstein S, White E, Tan CS, Mao-Draayer Y, Banks SA, Aksamit AJ, Gelfand JM, Thakur KT, Anand P, Cortese I, Bhattacharyya S
JAMA Neurol 2023 Jun 1;80(6):624-633. doi: 10.1001/jamaneurol.2023.0841. PMID: 37093609Free PMC Article
Shi Y, Wang C
Clin Immunol 2022 Apr;237:108982. Epub 2022 Mar 17 doi: 10.1016/j.clim.2022.108982. PMID: 35307610
Liu X, Liu X, Han X
Medicine (Baltimore) 2021 Dec 23;100(51):e27690. doi: 10.1097/MD.0000000000027690. PMID: 34941027Free PMC Article
Terri M, Trionfetti F, Montaldo C, Cordani M, Tripodi M, Lopez-Cabrera M, Strippoli R
Front Immunol 2021;12:607204. Epub 2021 Mar 29 doi: 10.3389/fimmu.2021.607204. PMID: 33854496Free PMC Article
Ford AC, Talley NJ
J Gastroenterol 2011 Apr;46(4):421-31. Epub 2011 Feb 18 doi: 10.1007/s00535-011-0379-9. PMID: 21331765

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