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Decreased circulating IgE

MedGen UID:
1714318
Concept ID:
C0853668
Finding
Synonyms: Decreased IgE; IgE deficiency
 
HPO: HP:0005479

Definition

An abnormally decreased level of immunoglobulin E (IgE) in blood. [from HPO]

Conditions with this feature

X-linked agammaglobulinemia
MedGen UID:
65123
Concept ID:
C0221026
Disease or Syndrome
X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin substitution therapy. Severe, difficult-to-treat enteroviral infections (often manifest as dermatomyositis or chronic meningoencephalitis) can be prevented by this treatment. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum IgG to be achieved, and more liberal use of antibiotics.
Hyper-IgM syndrome type 1
MedGen UID:
96019
Concept ID:
C0398689
Disease or Syndrome
X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG, IgA, and IgE with normal or elevated serum concentrations of IgM. Mitogen proliferation may be normal, but NK- and T-cell cytotoxicity can be impaired. Antigen-specific responses are usually decreased or absent. Total numbers of B cells are normal but there is a marked reduction of class-switched memory B cells. Defective oxidative burst of both neutrophils and macrophages has been reported. The range of clinical findings varies, even within the same family. More than 50% of males with HIGM1 develop symptoms by age one year, and more than 90% are symptomatic by age four years. HIGM1 usually presents in infancy with recurrent upper- and lower-respiratory tract bacterial infections, opportunistic infections including Pneumocystis jirovecii pneumonia, and recurrent or protracted diarrhea that can be infectious or noninfectious and is associated with failure to thrive. Neutropenia is common; thrombocytopenia and anemia are less commonly seen. Autoimmune and/or inflammatory disorders (such as sclerosing cholangitis) as well as increased risk for neoplasms have been reported as medical complications of this disorder. Significant neurologic complications, often the result of a CNS infection, are seen in 5%-15% of affected males. Liver disease, a serious complication of HIGM1 once observed in more than 80% of affected males by age 20 years, may be decreasing with adequate screening and treatment of Cryptosporidium infection.
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.
Hyper-IgM syndrome type 3
MedGen UID:
328419
Concept ID:
C1720957
Disease or Syndrome
Type 3 immunodeficiency with hyper-IgM (HIGM3), first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM. For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).
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).
Immunodeficiency 60
MedGen UID:
1681890
Concept ID:
C5193072
Disease or Syndrome
Immunodeficiency-60 and autoimmunity (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation (summary by Afzali et al., 2017).
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).
Agammaglobulinemia 8b, autosomal recessive
MedGen UID:
1808468
Concept ID:
C5676958
Disease or Syndrome
Autosomal recessive agammaglobulinemia-8B (AGM8B) is characterized by onset of recurrent infections in early childhood. Laboratory studies of affected individuals show decreased circulating immunoglobulins and decreased peripheral B cells. More variable features may include dysmorphic facies and subtle abnormalities of other immune cells, such as T cells. One patient who developed childhood B-cell acute lymphocytic leukemia (B-ALL) has been described (summary by Ben-Ali et al., 2017).

Professional guidelines

PubMed

Vassallo C, Somenzi A, De Amici M, Barruscotti S, Brazzelli V
Dermatol Ther 2022 Dec;35(12):e15946. Epub 2022 Oct 31 doi: 10.1111/dth.15946. PMID: 36259470Free PMC Article
Bayar Muluk N, Bafaqeeh SA, Cingi C
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109674. Epub 2019 Sep 10 doi: 10.1016/j.ijporl.2019.109674. PMID: 31526939
Lieberman JA, Chehade M
Curr Allergy Asthma Rep 2013 Feb;13(1):78-84. doi: 10.1007/s11882-012-0316-x. PMID: 23065311

Recent clinical studies

Etiology

Cianci R, Mancino G, Galli E, Serone E, Massoud R, D'Addabbo P, Poscia A, Borghetti A, Porzio O, Marmo R, Gambassi G, Frezza D
Gene 2023 Apr 30;862:147254. Epub 2023 Feb 9 doi: 10.1016/j.gene.2023.147254. PMID: 36764340
Bajzik V, DeBerg HA, Garabatos N, Rust BJ, Obrien KK, Nguyen QA, O'Rourke C, Smith A, Walker AH, Quinn C, Gersuk VH, Farrington M, Jeong D, Vickery BP, Adelman DC, Wambre E
Allergy 2022 Aug;77(8):2534-2548. Epub 2022 Mar 14 doi: 10.1111/all.15276. PMID: 35266148Free PMC Article
Reinert-Hartwall L, Siljander H, Härkönen T, Vatanen T, Ilonen J, Niemelä O, Luopajärvi K, Dorshakova N, Mokurov S, Peet A, Tillmann V, Uibo R, Knip M, Vaarala O, Honkanen J; DIABIMMUNE study group
Pediatr Allergy Immunol 2022 Jan;33(1):e13613. Epub 2021 Aug 17 doi: 10.1111/pai.13613. PMID: 34379817
Whittle E, Leonard MO, Gant TW, Tonge DP
Sci Rep 2019 Jun 20;9(1):8912. doi: 10.1038/s41598-019-45257-1. PMID: 31221987Free PMC Article
Kopp MV
Allergy 2011 Jun;66(6):792-7. Epub 2011 Feb 18 doi: 10.1111/j.1398-9995.2011.02553.x. PMID: 21332502

Diagnosis

LaHood NA, Min J, Keswani T, Richardson CM, Amoako K, Zhou J, Marini-Rapoport O, Bernard H, Hazebrouck S, Shreffler WG, Love JC, Pomes A, Pedersen LC, Mueller GA, Patil SU
J Clin Invest 2023 Jan 17;133(2) doi: 10.1172/JCI164501. PMID: 36647835Free PMC Article
Bajzik V, DeBerg HA, Garabatos N, Rust BJ, Obrien KK, Nguyen QA, O'Rourke C, Smith A, Walker AH, Quinn C, Gersuk VH, Farrington M, Jeong D, Vickery BP, Adelman DC, Wambre E
Allergy 2022 Aug;77(8):2534-2548. Epub 2022 Mar 14 doi: 10.1111/all.15276. PMID: 35266148Free PMC Article
Testera-Montes A, Salas M, Palomares F, Ariza A, Torres MJ, Rondón C, Eguiluz-Gracia I
Front Immunol 2021;12:691964. Epub 2021 Jun 2 doi: 10.3389/fimmu.2021.691964. PMID: 34149736Free PMC Article
Duncan JS
Clin EEG Neurosci 2004 Oct;35(4):168-72. doi: 10.1177/155005940403500405. PMID: 15493530
Drain KL, Volcheck GW
Drug Saf 2001;24(11):843-53. doi: 10.2165/00002018-200124110-00005. PMID: 11665871

Therapy

Vassallo C, Somenzi A, De Amici M, Barruscotti S, Brazzelli V
Dermatol Ther 2022 Dec;35(12):e15946. Epub 2022 Oct 31 doi: 10.1111/dth.15946. PMID: 36259470Free PMC Article
Bajzik V, DeBerg HA, Garabatos N, Rust BJ, Obrien KK, Nguyen QA, O'Rourke C, Smith A, Walker AH, Quinn C, Gersuk VH, Farrington M, Jeong D, Vickery BP, Adelman DC, Wambre E
Allergy 2022 Aug;77(8):2534-2548. Epub 2022 Mar 14 doi: 10.1111/all.15276. PMID: 35266148Free PMC Article
Wang CH, Weng CM, Huang TT, Lee MJ, Lo CY, Chen MC, Chou CL, Kuo HP
Respirology 2021 Sep;26(9):842-850. Epub 2021 Jun 9 doi: 10.1111/resp.14096. PMID: 34109713
Bayar Muluk N, Bafaqeeh SA, Cingi C
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109674. Epub 2019 Sep 10 doi: 10.1016/j.ijporl.2019.109674. PMID: 31526939
Lawrence MG, Woodfolk JA, Schuyler AJ, Stillman LC, Chapman MD, Platts-Mills TA
J Allergy Clin Immunol 2017 Feb;139(2):422-428.e4. Epub 2016 Jul 14 doi: 10.1016/j.jaci.2016.04.056. PMID: 27496596Free PMC Article

Prognosis

Liang P, Huang Q, Xu Y, Chen L, Li J, Xu A, Yang Q
Clin Rheumatol 2023 Apr;42(4):1069-1076. Epub 2022 Dec 30 doi: 10.1007/s10067-022-06457-9. PMID: 36585530
Akdis M, Akdis CA
J Allergy Clin Immunol 2014 Mar;133(3):621-31. doi: 10.1016/j.jaci.2013.12.1088. PMID: 24581429
Chapman KR, Cartier A, Hébert J, McIvor RA, Schellenberg RR
Can Respir J 2006 Jul-Aug;13 Suppl B(Suppl B):1B-9B. doi: 10.1155/2006/279435. PMID: 16909166Free PMC Article
El-On J
Acta Trop 2003 Feb;85(2):243-52. doi: 10.1016/s0001-706x(02)00217-6. PMID: 12606103
Drain KL, Volcheck GW
Drug Saf 2001;24(11):843-53. doi: 10.2165/00002018-200124110-00005. PMID: 11665871

Clinical prediction guides

Bajzik V, DeBerg HA, Garabatos N, Rust BJ, Obrien KK, Nguyen QA, O'Rourke C, Smith A, Walker AH, Quinn C, Gersuk VH, Farrington M, Jeong D, Vickery BP, Adelman DC, Wambre E
Allergy 2022 Aug;77(8):2534-2548. Epub 2022 Mar 14 doi: 10.1111/all.15276. PMID: 35266148Free PMC Article
Bayar Muluk N, Bafaqeeh SA, Cingi C
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109674. Epub 2019 Sep 10 doi: 10.1016/j.ijporl.2019.109674. PMID: 31526939
Whittle E, Leonard MO, Gant TW, Tonge DP
Sci Rep 2019 Jun 20;9(1):8912. doi: 10.1038/s41598-019-45257-1. PMID: 31221987Free PMC Article
Bang LM, Plosker GL
BioDrugs 2004;18(6):415-8. doi: 10.2165/00063030-200418060-00007. PMID: 15571425
Bang LM, Plosker GL
Treat Respir Med 2004;3(3):183-99. doi: 10.2165/00151829-200403030-00006. PMID: 15219177

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