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Idiopathic CD4 lymphocytopenia(ICL; IMD13)

MedGen UID:
816098
Concept ID:
C3809768
Disease or Syndrome
Synonyms: IDIOPATHIC CD4 LYMPHOPENIA; Immunodeficiency 13
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): UNC119 (17q11.2)
 
Monarch Initiative: MONDO:0014226
OMIM®: 615518
Orphanet: ORPHA228000

Definition

Idiopathic CD4 lymphopenia (ICL) is a rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T cells) in the absence of HIV infection or other known causes of immunodeficiency. ICL predisposes to infections and malignancy (summary by Gorska and Alam, 2012). [from OMIM]

Clinical features

From HPO
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Bronchiolitis obliterans organizing pneumonia
MedGen UID:
116663
Concept ID:
C0242770
Disease or Syndrome
Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
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.
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.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Decreased CD4:CD8 ratio
MedGen UID:
163125
Concept ID:
C0853905
Finding
An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.
B lymphocytopenia
MedGen UID:
340780
Concept ID:
C1855067
Finding
An abnormal decrease from the normal count of B cells.
T lymphocytopenia
MedGen UID:
419385
Concept ID:
C2931322
Finding
An abnormally low count of T cells.
Recurrent shingles
MedGen UID:
816106
Concept ID:
C3809776
Disease or Syndrome
Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.
Decreased proportion of CD4-positive helper T cells
MedGen UID:
1719772
Concept ID:
C5235140
Finding
A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.
Nasal polyposis
MedGen UID:
6524
Concept ID:
C0027430
Anatomical Abnormality
Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIdiopathic CD4 lymphocytopenia
Follow this link to review classifications for Idiopathic CD4 lymphocytopenia in Orphanet.

Professional guidelines

PubMed

Yarmohammadi H, Cunningham-Rundles C
Ann Allergy Asthma Immunol 2017 Oct;119(4):374-378. doi: 10.1016/j.anai.2017.07.021. PMID: 28958376Free PMC Article

Recent clinical studies

Etiology

Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
Dewangan A, Singh J, Kumar D, Kumar N, Kumar K, Dinkar A
Infect Disord Drug Targets 2023;23(1):e210622206242. doi: 10.2174/1871526522666220621110723. PMID: 35726810
Yarmohammadi H, Cunningham-Rundles C
Ann Allergy Asthma Immunol 2017 Oct;119(4):374-378. doi: 10.1016/j.anai.2017.07.021. PMID: 28958376Free PMC Article
Régent A, Autran B, Carcelain G, Cheynier R, Terrier B, Charmeteau-De Muylder B, Krivitzky A, Oksenhendler E, Costedoat-Chalumeau N, Hubert P, Lortholary O, Dupin N, Debré P, Guillevin L, Mouthon L; French Idiopathic CD4 T Lymphocytopenia Study Group
Medicine (Baltimore) 2014 Mar;93(2):61-72. doi: 10.1097/MD.0000000000000017. PMID: 24646462Free PMC Article
Zonios DI, Falloon J, Huang CY, Chaitt D, Bennett JE
Medicine (Baltimore) 2007 Mar;86(2):78-92. doi: 10.1097/md.0b013e31803b52f5. PMID: 17435588

Diagnosis

Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
Dewangan A, Singh J, Kumar D, Kumar N, Kumar K, Dinkar A
Infect Disord Drug Targets 2023;23(1):e210622206242. doi: 10.2174/1871526522666220621110723. PMID: 35726810
Brooks JP, Ghaffari G
Allergy Asthma Proc 2016 Nov;37(6):501-504. doi: 10.2500/aap.2016.37.3992. PMID: 27931306
Luo L, Li T
FEMS Immunol Med Microbiol 2008 Dec;54(3):283-9. doi: 10.1111/j.1574-695X.2008.00490.x. PMID: 19049641
Walker UA, Warnatz K
Curr Opin Rheumatol 2006 Jul;18(4):389-95. doi: 10.1097/01.bor.0000231908.57913.2f. PMID: 16763460

Therapy

Varmpompiti K, Westwood AJ, Ben-Joseph A, Sibtain N, Ibrahim MAA, Stanton B, Zuckerman M, Hadden R, Ritter LM
J Neuroimmunol 2023 Dec 15;385:578248. Epub 2023 Nov 18 doi: 10.1016/j.jneuroim.2023.578248. PMID: 37995595
Sortino O, Dias J, Anderson M, Laidlaw E, Leeansyah E, Lisco A, Sheikh V, Sandberg JK, Sereti I
J Infect Dis 2021 Aug 16;224(4):715-725. doi: 10.1093/infdis/jiaa782. PMID: 34398238Free PMC Article
Yarmohammadi H, Cunningham-Rundles C
Ann Allergy Asthma Immunol 2017 Oct;119(4):374-378. doi: 10.1016/j.anai.2017.07.021. PMID: 28958376Free PMC Article
Brooks JP, Ghaffari G
Allergy Asthma Proc 2016 Nov;37(6):501-504. doi: 10.2500/aap.2016.37.3992. PMID: 27931306
Gholamin M, Bazi A, Abbaszadegan MR
Curr Opin Hematol 2015 Jan;22(1):46-52. doi: 10.1097/MOH.0000000000000102. PMID: 25463685

Prognosis

Tadjali A, Pan S, Perli E, Keaton T
BMJ Case Rep 2023 Jul 6;16(7) doi: 10.1136/bcr-2023-254746. PMID: 37419499Free PMC Article
Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
Dewangan A, Singh J, Kumar D, Kumar N, Kumar K, Dinkar A
Infect Disord Drug Targets 2023;23(1):e210622206242. doi: 10.2174/1871526522666220621110723. PMID: 35726810
Delgado-Alvarado M, Sedano MJ, González-Quintanilla V, de Lucas EM, Polo JM, Berciano J
J Neurol Sci 2013 Apr 15;327(1-2):75-9. Epub 2013 Mar 5 doi: 10.1016/j.jns.2013.02.002. PMID: 23465508
Zonios D, Sheikh V, Sereti I
Arthritis Res Ther 2012 Aug 31;14(4):222. doi: 10.1186/ar4027. PMID: 22971990Free PMC Article

Clinical prediction guides

Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
Shimizu H, Hara S, Nishioka H
J Infect Chemother 2020 Feb;26(2):257-260. Epub 2019 Jul 23 doi: 10.1016/j.jiac.2019.07.006. PMID: 31345742
Gholamin M, Bazi A, Abbaszadegan MR
Curr Opin Hematol 2015 Jan;22(1):46-52. doi: 10.1097/MOH.0000000000000102. PMID: 25463685
Régent A, Autran B, Carcelain G, Cheynier R, Terrier B, Charmeteau-De Muylder B, Krivitzky A, Oksenhendler E, Costedoat-Chalumeau N, Hubert P, Lortholary O, Dupin N, Debré P, Guillevin L, Mouthon L; French Idiopathic CD4 T Lymphocytopenia Study Group
Medicine (Baltimore) 2014 Mar;93(2):61-72. doi: 10.1097/MD.0000000000000017. PMID: 24646462Free PMC Article
Zonios DI, Falloon J, Huang CY, Chaitt D, Bennett JE
Medicine (Baltimore) 2007 Mar;86(2):78-92. doi: 10.1097/md.0b013e31803b52f5. PMID: 17435588

Recent systematic reviews

Mahmood M, Ajmal S, Abu Saleh OM, Bryson A, Marcelin JR, Wilson JW
Infect Dis (Lond) 2018 May;50(5):329-339. Epub 2017 Nov 20 doi: 10.1080/23744235.2017.1404630. PMID: 29157060

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