U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Decreased proportion of CD4-positive helper T cells

MedGen UID:
1719772
Concept ID:
C5235140
Finding
Synonym: Decreased number of CD4+ T cells
 
HPO: HP:0005407

Definition

A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased proportion of CD4-positive helper T cells

Conditions with this feature

Ataxia-telangiectasia syndrome
MedGen UID:
439
Concept ID:
C0004135
Disease or Syndrome
Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, frequent infections, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation. Non-classic forms of A-T have included adult-onset A-T and A-T with early-onset dystonia.
Wiskott-Aldrich syndrome
MedGen UID:
21921
Concept ID:
C0043194
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.
X-linked severe combined immunodeficiency
MedGen UID:
220906
Concept ID:
C1279481
Disease or Syndrome
The phenotypic spectrum of X-linked severe combined immunodeficiency (X-SCID) ranges from typical X-SCID (early-onset disease in males that is fatal if not treated with hematopoietic stem cell transplantation [HSCT] or gene therapy) to atypical X-SCID (later-onset disease comprising phenotypes caused by variable immunodeficiency, immune dysregulation, and/or autoimmunity). Typical X-SCID. Prior to universal newborn screening (NBS) for SCID most males with typical X-SCID came to medical attention between ages three and six months because of recurrent infections, persistent infections, and infections with opportunistic organisms. With universal NBS for SCID, the common presentation for typical X-SCID is now an asymptomatic, healthy-appearing male infant. Atypical X-SCID, which usually is not detected by NBS, can manifest in the first years of life or later with one of the following: recurrent upper and lower respiratory tract infections with bronchiectasis; Omenn syndrome, a clinical phenotype caused by immune dysregulation; X-SCID combined immunodeficiency (often with recurrent infections, warts, and dermatitis); immune dysregulation and autoimmunity; or Epstein-Barr virus-related lymphoproliferative complications.
Vici syndrome
MedGen UID:
340962
Concept ID:
C1855772
Disease or Syndrome
With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.
MHC class II deficiency 2
MedGen UID:
347904
Concept ID:
C1859535
Disease or Syndrome
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
MedGen UID:
461506
Concept ID:
C3150156
Disease or Syndrome
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
MedGen UID:
477076
Concept ID:
C3275445
Disease or Syndrome
XMEN is an X-linked recessive immunodeficiency characterized by CD4 (186940) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation (Li et al., 2011). Affected individuals have chronic Epstein-Barr virus (EBV) infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders. Magnesium supplementation may be therapeutic (summary by Li et al., 2014).
Lymphoproliferative syndrome 1
MedGen UID:
765548
Concept ID:
C3552634
Disease or Syndrome
Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).
Idiopathic CD4 lymphocytopenia
MedGen UID:
816098
Concept ID:
C3809768
Disease or Syndrome
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).
Severe combined immunodeficiency due to LCK deficiency
MedGen UID:
862670
Concept ID:
C4014233
Disease or Syndrome
Immunodeficiency-22 (IMD22) is an autosomal recessive disorder characterized by the onset of recurrent bacterial, viral, and fungal respiratory, gastrointestinal, and skin infections in infancy or early childhood. Immunologic workup shows severe T-cell lymphopenia, particularly affecting the CD4+ subset, and impaired proximal TCR intracellular signaling and activation. Although NK cells and B cells are normal, some patients may have hypogammaglobulinemia secondary to the T-cell defect. There are variable manifestations, likely due to the severity of the particular LCK mutation: patients may develop prominent skin lesions resembling epidermodysplasia verruciformis, gastrointestinal inflammation, and virus-induced malignancy. The disease can be fatal in childhood, but hematopoietic stem cell transplant (HSCT) may be curative (Hauck et al., 2012; Li et al., 2016; Keller et al., 2023).
Lung disease, immunodeficiency, and chromosome breakage syndrome;
MedGen UID:
934620
Concept ID:
C4310653
Disease or Syndrome
LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).
Hyperuricemic nephropathy, familial juvenile type 4
MedGen UID:
934708
Concept ID:
C4310741
Disease or Syndrome
Autosomal dominant tubulointerstitial kidney disease-5 (ADTKD5) is characterized by the onset of progressive chronic renal disease in the first decades of life. Mild hyperuricemia may be present, but gout, hypertension, and proteinuria are usually absent. The disease may be associated with anemia or neutropenia. Some patients may have additional findings, including poor overall growth and impaired cognitive function. Renal biopsy shows tubulointerstitial abnormalities with atrophic tubules and fibrosis; secondary glomerular abnormalities and simple cysts may also be present (summary by Bolar et al., 2016). For a discussion of genetic heterogeneity and revised nomenclature of ADTKD, see ADTKD1 (162000).
Combined immunodeficiency due to DOCK8 deficiency
MedGen UID:
1648410
Concept ID:
C4722305
Disease or Syndrome
Hyper-IgE syndrome-2 with recurrent infections (HIES2) is an autosomal recessive immunologic disorder characterized by recurrent staphylococcal infections of the skin and respiratory tract, eczema, elevated serum immunoglobulin E, and hypereosinophilia. It is distinguished from autosomal dominant HIES1 (147060) by the lack of connective tissue and skeletal involvement (Renner et al., 2004). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see 147060. See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006).
Immunodeficiency 15a
MedGen UID:
1648385
Concept ID:
C4748694
Disease or Syndrome
Immunodeficiency 15A (IMD15A) is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections and lymphopenia, combined with immune activation of both CD4+ and CD8+ T cells. One patient presented with inflammatory disease and possible ectodermal defect.
Immunodeficiency 70
MedGen UID:
1740270
Concept ID:
C5436501
Disease or Syndrome
Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections, such as sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia has also been observed (summary by Thaventhiran et al., 2020).
Immunodeficiency 85 and autoimmunity
MedGen UID:
1794186
Concept ID:
C5561976
Disease or Syndrome
Immunodeficiency-85 and autoimmunity (IMD85) is an autosomal dominant immunologic disorder characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life. Affected individuals also develop autoimmune enteropathy with vomiting, diarrhea, and poor overall growth. More variable features may include autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies show hypogammaglobulinemia and abnormal T-cell function, consistent with a combined immunodeficiency (Keskitalo et al., 2019).
Immunodeficiency 102
MedGen UID:
1812534
Concept ID:
C5676886
Disease or Syndrome
Immunodeficiency-102 (IMD102) is an X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation (Delmonte et al., 2021).

Recent clinical studies

Etiology

Yuan S, Zeng Y, Li J, Wang C, Li W, He Z, Ye J, Li F, Chen Y, Lin X, Yu N, Cai X
Lupus Sci Med 2022 Jun;9(1) doi: 10.1136/lupus-2022-000660. PMID: 35732344Free PMC Article
Yang M, Lv Q, Wei Q, Jiang Y, Qi J, Xiao M, Fang L, Xie Y, Cao S, Lin Z, Zhang Y, Tu L, Zhao M, Pan Y, Jin O, Gu J
Arthritis Res Ther 2020 Jun 19;22(1):149. doi: 10.1186/s13075-020-02226-8. PMID: 32560733Free PMC Article
Dulic S, Vasarhelyi Z, Bajnok A, Szalay B, Toldi G, Kovacs L, Balog A
Pathobiology 2018;85(3):201-210. Epub 2017 Dec 6 doi: 10.1159/000484250. PMID: 29212085
Chen Y, Qi B, Xu W, Ma B, Li L, Chen Q, Qian W, Liu X, Qu H
Mol Med Rep 2015 Oct;12(4):6105-11. Epub 2015 Jul 29 doi: 10.3892/mmr.2015.4136. PMID: 26239429
van der Geest KS, Abdulahad WH, Tete SM, Lorencetti PG, Horst G, Bos NA, Kroesen BJ, Brouwer E, Boots AM
Exp Gerontol 2014 Dec;60:190-6. Epub 2014 Nov 7 doi: 10.1016/j.exger.2014.11.005. PMID: 25449852

Diagnosis

Ye Q, Zhou C, Li S, Wang J, Liu F, Liu Z, Mao J, Fu H
Sci Rep 2021 Jun 22;11(1):13083. doi: 10.1038/s41598-021-92573-6. PMID: 34158604Free PMC Article
Seledtsov VI, von Delwig AA
Expert Rev Vaccines 2020 Mar;19(3):209-215. Epub 2020 Apr 6 doi: 10.1080/14760584.2020.1745638. PMID: 32191535
Wang Y, Zhang S, Zhang N, Feng M, Liang Z, Zhao X, Gao C, Qin Y, Wu Y, Liu G, Zhao J, Guo H, Luo J
Mol Immunol 2020 Feb;118:19-29. Epub 2019 Dec 26 doi: 10.1016/j.molimm.2019.11.010. PMID: 31837507
Hid Cadena R, Reitsema RD, Huitema MG, van Sleen Y, van der Geest KSM, Heeringa P, Boots AMH, Abdulahad WH, Brouwer E
Front Immunol 2019;10:1638. Epub 2019 Jul 16 doi: 10.3389/fimmu.2019.01638. PMID: 31379838Free PMC Article
Wei K, Jiang BC, Guan JH, Zhang DN, Zhang MX, Wu JL, Zhu GZ
Viral Immunol 2018 Oct;31(8):559-567. Epub 2018 Aug 1 doi: 10.1089/vim.2018.0055. PMID: 30067145

Therapy

Wei K, Jiang BC, Guan JH, Zhang DN, Zhang MX, Wu JL, Zhu GZ
Viral Immunol 2018 Oct;31(8):559-567. Epub 2018 Aug 1 doi: 10.1089/vim.2018.0055. PMID: 30067145
Chen CC, Koenig A, Saison C, Dahdal S, Rigault G, Barba T, Taillardet M, Chartoire D, Ovize M, Morelon E, Defrance T, Thaunat O
Front Immunol 2018;9:275. Epub 2018 Feb 19 doi: 10.3389/fimmu.2018.00275. PMID: 29515582Free PMC Article
Dulic S, Vasarhelyi Z, Bajnok A, Szalay B, Toldi G, Kovacs L, Balog A
Pathobiology 2018;85(3):201-210. Epub 2017 Dec 6 doi: 10.1159/000484250. PMID: 29212085
Xu S, Zuo A, Guo Z, Wan C
J Immunol Res 2017;2017:7416792. Epub 2017 Jun 15 doi: 10.1155/2017/7416792. PMID: 28706956Free PMC Article
van der Geest KS, Abdulahad WH, Tete SM, Lorencetti PG, Horst G, Bos NA, Kroesen BJ, Brouwer E, Boots AM
Exp Gerontol 2014 Dec;60:190-6. Epub 2014 Nov 7 doi: 10.1016/j.exger.2014.11.005. PMID: 25449852

Prognosis

Yuan S, Zeng Y, Li J, Wang C, Li W, He Z, Ye J, Li F, Chen Y, Lin X, Yu N, Cai X
Lupus Sci Med 2022 Jun;9(1) doi: 10.1136/lupus-2022-000660. PMID: 35732344Free PMC Article
Gutiérrez-Bautista JF, Rodriguez-Nicolas A, Rosales-Castillo A, Jiménez P, Garrido F, Anderson P, Ruiz-Cabello F, López-Ruz MÁ
Front Immunol 2020;11:596553. Epub 2020 Nov 26 doi: 10.3389/fimmu.2020.596553. PMID: 33324414Free PMC Article
Chen CC, Koenig A, Saison C, Dahdal S, Rigault G, Barba T, Taillardet M, Chartoire D, Ovize M, Morelon E, Defrance T, Thaunat O
Front Immunol 2018;9:275. Epub 2018 Feb 19 doi: 10.3389/fimmu.2018.00275. PMID: 29515582Free PMC Article
Dulic S, Vasarhelyi Z, Bajnok A, Szalay B, Toldi G, Kovacs L, Balog A
Pathobiology 2018;85(3):201-210. Epub 2017 Dec 6 doi: 10.1159/000484250. PMID: 29212085
Eckschlager T, Průsa R, Hladíková M, Radvanská J, Slabý K, Radvanský J
Neoplasma 2004;51(4):261-4. PMID: 15254656

Clinical prediction guides

Zhang X, Wang H, Song X, Song Y, He G, Fang K, Chang X
Clin Exp Rheumatol 2023 Jul;41(7):1384-1395. Epub 2022 Oct 29 doi: 10.55563/clinexprheumatol/0dck3t. PMID: 36377573
Yuan S, Zeng Y, Li J, Wang C, Li W, He Z, Ye J, Li F, Chen Y, Lin X, Yu N, Cai X
Lupus Sci Med 2022 Jun;9(1) doi: 10.1136/lupus-2022-000660. PMID: 35732344Free PMC Article
Ye Q, Zhou C, Li S, Wang J, Liu F, Liu Z, Mao J, Fu H
Sci Rep 2021 Jun 22;11(1):13083. doi: 10.1038/s41598-021-92573-6. PMID: 34158604Free PMC Article
Chen CC, Koenig A, Saison C, Dahdal S, Rigault G, Barba T, Taillardet M, Chartoire D, Ovize M, Morelon E, Defrance T, Thaunat O
Front Immunol 2018;9:275. Epub 2018 Feb 19 doi: 10.3389/fimmu.2018.00275. PMID: 29515582Free PMC Article
Chen Y, Qi B, Xu W, Ma B, Li L, Chen Q, Qian W, Liu X, Qu H
Mol Med Rep 2015 Oct;12(4):6105-11. Epub 2015 Jul 29 doi: 10.3892/mmr.2015.4136. PMID: 26239429

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...