U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Adrenal cortical sclerosis

MedGen UID:
1842121
Concept ID:
C5826690
Pathologic Function
HPO: HP:0034829

Definition

Abnormal thickening of of the outer layer (cortex) of the adrenal gland due to fibrosis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdrenal cortical sclerosis

Conditions with this feature

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
MedGen UID:
354935
Concept ID:
C1863236
Disease or Syndrome
Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The clinical phenotypic spectrum includes: Severe combined immunodeficiency disease (SCID), often diagnosed by age six months and usually by age 12 months; Less severe "delayed" onset combined immune deficiency (CID), usually diagnosed between age one and ten years; "Late/adult onset" CID, diagnosed in the second to fourth decades; Benign "partial ADA deficiency" (very low or absent ADA activity in erythrocytes but greater ADA activity in nucleated cells), which is compatible with normal immune function. Infants with typical early-onset ADA-deficient SCID have failure to thrive and opportunistic infections associated with marked depletion of T, B, and NK lymphocytes, and an absence of both humoral and cellular immune function. If immune function is not restored, children with ADA-deficient SCID rarely survive beyond age one to two years. Infections in delayed- and late-onset types (commonly, recurrent otitis, sinusitis, and upper respiratory) may initially be less severe than those in individuals with ADA-deficient SCID; however, by the time of diagnosis these individuals often have chronic pulmonary insufficiency and may have autoimmune phenomena (cytopenias, anti-thyroid antibodies), allergies, and elevated serum concentration of IgE. The longer the disorder goes unrecognized, the more immune function deteriorates and the more likely are chronic sequelae of recurrent infection.

Professional guidelines

PubMed

Abboud H, Probasco JC, Irani S, Ances B, Benavides DR, Bradshaw M, Christo PP, Dale RC, Fernandez-Fournier M, Flanagan EP, Gadoth A, George P, Grebenciucova E, Jammoul A, Lee ST, Li Y, Matiello M, Morse AM, Rae-Grant A, Rojas G, Rossman I, Schmitt S, Venkatesan A, Vernino S, Pittock SJ, Titulaer MJ; Autoimmune Encephalitis Alliance Clinicians Network
J Neurol Neurosurg Psychiatry 2021 Jul;92(7):757-768. Epub 2021 Mar 1 doi: 10.1136/jnnp-2020-325300. PMID: 33649022Free PMC Article
Sterkens A, Lambert J, Bervoets A
Clin Exp Med 2021 May;21(2):215-230. Epub 2021 Jan 1 doi: 10.1007/s10238-020-00673-w. PMID: 33386567
Kirtschig G
Dtsch Arztebl Int 2016 May 13;113(19):337-43. doi: 10.3238/arztebl.2016.0337. PMID: 27232363Free PMC Article

Recent clinical studies

Etiology

Algahtani H, Shirah B, Alassiri A
Mult Scler Relat Disord 2017 May;14:72-79. Epub 2017 Apr 9 doi: 10.1016/j.msard.2017.04.003. PMID: 28619436
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Kirtschig G
Dtsch Arztebl Int 2016 May 13;113(19):337-43. doi: 10.3238/arztebl.2016.0337. PMID: 27232363Free PMC Article
Schwartz A, Watson JN, Hutchinson MR
Sports Health 2015 Sep-Oct;7(5):415-20. Epub 2015 Jan 23 doi: 10.1177/1941738114568775. PMID: 26502416Free PMC Article
Galea I, Ward-Abel N, Heesen C
BMJ 2015 Apr 14;350:h1765. doi: 10.1136/bmj.h1765. PMID: 25872511

Diagnosis

Abboud H, Probasco JC, Irani S, Ances B, Benavides DR, Bradshaw M, Christo PP, Dale RC, Fernandez-Fournier M, Flanagan EP, Gadoth A, George P, Grebenciucova E, Jammoul A, Lee ST, Li Y, Matiello M, Morse AM, Rae-Grant A, Rojas G, Rossman I, Schmitt S, Venkatesan A, Vernino S, Pittock SJ, Titulaer MJ; Autoimmune Encephalitis Alliance Clinicians Network
J Neurol Neurosurg Psychiatry 2021 Jul;92(7):757-768. Epub 2021 Mar 1 doi: 10.1136/jnnp-2020-325300. PMID: 33649022Free PMC Article
Sterkens A, Lambert J, Bervoets A
Clin Exp Med 2021 May;21(2):215-230. Epub 2021 Jan 1 doi: 10.1007/s10238-020-00673-w. PMID: 33386567
Abel A, McClelland C, Lee MS
Surv Ophthalmol 2019 Nov-Dec;64(6):770-779. Epub 2019 Jun 20 doi: 10.1016/j.survophthal.2019.06.001. PMID: 31229520
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Kirtschig G
Dtsch Arztebl Int 2016 May 13;113(19):337-43. doi: 10.3238/arztebl.2016.0337. PMID: 27232363Free PMC Article

Therapy

Sterkens A, Lambert J, Bervoets A
Clin Exp Med 2021 May;21(2):215-230. Epub 2021 Jan 1 doi: 10.1007/s10238-020-00673-w. PMID: 33386567
Abel A, McClelland C, Lee MS
Surv Ophthalmol 2019 Nov-Dec;64(6):770-779. Epub 2019 Jun 20 doi: 10.1016/j.survophthal.2019.06.001. PMID: 31229520
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Kirtschig G
Dtsch Arztebl Int 2016 May 13;113(19):337-43. doi: 10.3238/arztebl.2016.0337. PMID: 27232363Free PMC Article
Schwartz A, Watson JN, Hutchinson MR
Sports Health 2015 Sep-Oct;7(5):415-20. Epub 2015 Jan 23 doi: 10.1177/1941738114568775. PMID: 26502416Free PMC Article

Prognosis

Nosadini M, Eyre M, Molteni E, Thomas T, Irani SR, Dalmau J, Dale RC, Lim M; International NMDAR Antibody Encephalitis Consensus Group, Anlar B, Armangue T, Benseler S, Cellucci T, Deiva K, Gallentine W, Gombolay G, Gorman MP, Hacohen Y, Jiang Y, Lim BC, Muscal E, Ndondo A, Neuteboom R, Rostásy K, Sakuma H, Sartori S, Sharma S, Tenembaum SN, Van Mater HA, Wells E, Wickstrom R, Yeshokumar AK
JAMA Neurol 2021 Nov 1;78(11):1333-1344. doi: 10.1001/jamaneurol.2021.3188. PMID: 34542573Free PMC Article
Sterkens A, Lambert J, Bervoets A
Clin Exp Med 2021 May;21(2):215-230. Epub 2021 Jan 1 doi: 10.1007/s10238-020-00673-w. PMID: 33386567
Abel A, McClelland C, Lee MS
Surv Ophthalmol 2019 Nov-Dec;64(6):770-779. Epub 2019 Jun 20 doi: 10.1016/j.survophthal.2019.06.001. PMID: 31229520
Kirtschig G
Dtsch Arztebl Int 2016 May 13;113(19):337-43. doi: 10.3238/arztebl.2016.0337. PMID: 27232363Free PMC Article
Galea I, Ward-Abel N, Heesen C
BMJ 2015 Apr 14;350:h1765. doi: 10.1136/bmj.h1765. PMID: 25872511

Clinical prediction guides

De Lott LB, Bennett JL, Costello F
J Neurol 2022 Jan;269(1):111-124. Epub 2021 Jan 3 doi: 10.1007/s00415-020-10352-1. PMID: 33389032Free PMC Article
Nosadini M, Eyre M, Molteni E, Thomas T, Irani SR, Dalmau J, Dale RC, Lim M; International NMDAR Antibody Encephalitis Consensus Group, Anlar B, Armangue T, Benseler S, Cellucci T, Deiva K, Gallentine W, Gombolay G, Gorman MP, Hacohen Y, Jiang Y, Lim BC, Muscal E, Ndondo A, Neuteboom R, Rostásy K, Sakuma H, Sartori S, Sharma S, Tenembaum SN, Van Mater HA, Wells E, Wickstrom R, Yeshokumar AK
JAMA Neurol 2021 Nov 1;78(11):1333-1344. doi: 10.1001/jamaneurol.2021.3188. PMID: 34542573Free PMC Article
Le Cann M, Bouhour F, Viala K, Simon L, Tard C, Rossi C, Morel G, Lagrange E, Magy L, Créange A, Michaud M, Franques J, Echaniz-Laguna A, Antoine JC, Baron M, Arnulf B, Puma A, Delmont E, Maisonobe T, Leblond V, Roos-Weil D
Blood 2020 Nov 19;136(21):2428-2436. doi: 10.1182/blood.2020007092. PMID: 32959046
Howard JF Jr, Bril V, Burns TM, Mantegazza R, Bilinska M, Szczudlik A, Beydoun S, Garrido FJRR, Piehl F, Rottoli M, Van Damme P, Vu T, Evoli A, Freimer M, Mozaffar T, Ward ES, Dreier T, Ulrichts P, Verschueren K, Guglietta A, de Haard H, Leupin N, Verschuuren JJGM; Efgartigimod MG Study Group
Neurology 2019 Jun 4;92(23):e2661-e2673. Epub 2019 May 22 doi: 10.1212/WNL.0000000000007600. PMID: 31118245Free PMC Article
Nicholas R, Chataway J
BMJ Clin Evid 2009 May 14;2009 PMID: 21733201Free PMC Article

Recent systematic reviews

Pritchard J, Hughes RA, Hadden RD, Brassington R
Cochrane Database Syst Rev 2016 Nov 15;11(11):CD008630. doi: 10.1002/14651858.CD008630.pub4. PMID: 27846348Free PMC Article
Nava F, Ghilotti F, Maggi L, Hatemi G, Del Bianco A, Merlo C, Filippini G, Tramacere I
Cochrane Database Syst Rev 2014;2014(12):CD010729. Epub 2014 Dec 18 doi: 10.1002/14651858.CD010729.pub2. PMID: 25521793Free PMC Article
Nicholas R, Chataway J
BMJ Clin Evid 2009 May 14;2009 PMID: 21733201Free PMC Article
Vedula SS, Brodney-Folse S, Gal RL, Beck R
Cochrane Database Syst Rev 2007 Jan 24;(1):CD001430. doi: 10.1002/14651858.CD001430.pub2. PMID: 17253459Free PMC Article
Fergusson D, Hutton B, Sharma M, Tinmouth A, Wilson K, Cameron DW, Hebert PC
Transfusion 2005 Oct;45(10):1640-57. doi: 10.1111/j.1537-2995.2005.00581.x. PMID: 16181216

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...