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Immunodeficiency due to CD25 deficiency(IMD41)

MedGen UID:
377894
Concept ID:
C1853392
Disease or Syndrome
Synonyms: CD25 DEFICIENCY; IL2RA DEFICIENCY; IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; Interleukin 2 Receptor Alpha Chain Deficiency; Interleukin 2 receptor, alpha, deficiency of
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): IL2RA (10p15.1)
 
Monarch Initiative: MONDO:0011664
OMIM®: 606367
Orphanet: ORPHA169100

Definition

Immunodeficiency-41 is an autosomal recessive complex disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation (summary by Goudy et al., 2013). [from OMIM]

Clinical features

From HPO
Failure to thrive in infancy
MedGen UID:
358083
Concept ID:
C1867873
Finding
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Villous atrophy
MedGen UID:
154306
Concept ID:
C0554101
Finding
The enteric villi are atrophic or absent.
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Cellulitis
MedGen UID:
40174
Concept ID:
C0007642
Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
Pulmonary infiltrates
MedGen UID:
116009
Concept ID:
C0235896
Finding
A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Pulmonary interstitial lymphocyte infiltration
MedGen UID:
1785260
Concept ID:
C5539701
Finding
Abnormal accumulation of lymphocytes in the interstitium of the lung.
Autoimmune hemolytic anemia
MedGen UID:
1918
Concept ID:
C0002880
Disease or Syndrome
An autoimmune form of hemolytic anemia.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Eczematoid dermatitis
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
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.
Thyroiditis
MedGen UID:
21548
Concept ID:
C0040147
Disease or Syndrome
Inflammation of the thyroid gland.
Decreased circulating IgA level
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Increased circulating IgE level
MedGen UID:
116018
Concept ID:
C0236175
Finding
An abnormally increased overall level of immunoglobulin E in blood.
Psoriasiform dermatitis
MedGen UID:
75508
Concept ID:
C0262985
Disease or Syndrome
A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
Enlarged tonsils
MedGen UID:
78800
Concept ID:
C0272386
Disease or Syndrome
Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargment (swelling) of a lymph node.
Decreased CD4:CD8 ratio
MedGen UID:
163125
Concept ID:
C0853905
Finding
An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.
Recurrent viral infections
MedGen UID:
332357
Concept ID:
C1837066
Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Recurrent fungal infections
MedGen UID:
336166
Concept ID:
C1844384
Disease or Syndrome
Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
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.
Decreased specific anti-polysaccharide antibody level
MedGen UID:
867382
Concept ID:
C4021747
Finding
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.
Chronic oral candidiasis
MedGen UID:
870166
Concept ID:
C4024599
Disease or Syndrome
Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.
Decreased lymphocyte proliferation in response to anti-CD3
MedGen UID:
1614554
Concept ID:
C4531165
Finding
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.
Decreased proportion of CD4+CD25+ regulatory T cells
MedGen UID:
1688709
Concept ID:
C5139086
Finding
An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.
Severe varicella zoster infection
MedGen UID:
1688785
Concept ID:
C5139168
Disease or Syndrome
An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.
Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Concave nasal ridge
MedGen UID:
78105
Concept ID:
C0264169
Finding
Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Scaling skin
MedGen UID:
472970
Concept ID:
C0237849
Finding
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
Alopecia universalis
MedGen UID:
120481
Concept ID:
C0263505
Disease or Syndrome
Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition.\n\nIn most people with alopecia areata, hair falls out in small, round patches, leaving coin-sized areas of bare skin. This patchy hair loss occurs most often on the scalp but can affect other parts of the body as well. Uncommonly, the hair loss involves the entire scalp (in which case the condition is known as alopecia totalis) or the whole body (alopecia universalis). Other rare forms of alopecia areata, which have different patterns of hair loss, have also been reported.\n\nAlopecia areata affects people of all ages, although it most commonly appears in adolescence or early adulthood. Hair loss occurs over a period of weeks. The hair usually grows back after several months, although it may fall out again. In some cases, unpredictable cycles of hair loss followed by regrowth can last for years. In addition to hair loss, some affected individuals have fingernail and toenail abnormalities, such as pits on the surface of the nails.\n\nThe hair loss associated with alopecia areata is not painful or disabling. However, it causes changes in a person's appearance that can profoundly affect quality of life and self-esteem. In some people, the condition can lead to depression, anxiety, and other emotional or psychological issues.
Patchy alopecia
MedGen UID:
350774
Concept ID:
C1862862
Finding
Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency due to CD25 deficiency
Follow this link to review classifications for Immunodeficiency due to CD25 deficiency in Orphanet.

Recent clinical studies

Etiology

Baş Z, Bayraktutar BN, Uçakhan ÖÖ
Eye Contact Lens 2018 Jan;44(1):e1-e3. doi: 10.1097/ICL.0000000000000346. PMID: 29252577
Roifman CM
Immunol Rev 2005 Feb;203:143-55. doi: 10.1111/j.0105-2896.2005.00236.x. PMID: 15661027

Diagnosis

Waheed N, Naseer M, Haider N, Suleman S, Ullah A
Immunogenetics 2023 Apr;75(2):71-79. Epub 2022 Oct 4 doi: 10.1007/s00251-022-01278-1. PMID: 36195682
Vignoli M, Ciullini Mannurita S, Fioravanti A, Tumino M, Grassi A, Guariso G, Favre C, D'Elios MM, Gambineri E
Clin Immunol 2019 Apr;201:15-19. Epub 2019 Feb 8 doi: 10.1016/j.clim.2019.02.003. PMID: 30742970
Baş Z, Bayraktutar BN, Uçakhan ÖÖ
Eye Contact Lens 2018 Jan;44(1):e1-e3. doi: 10.1097/ICL.0000000000000346. PMID: 29252577
Atkinson TP
Curr Opin Rheumatol 2012 Sep;24(5):515-21. doi: 10.1097/BOR.0b013e32835680c6. PMID: 22820513
Roifman CM
Immunol Rev 2005 Feb;203:143-55. doi: 10.1111/j.0105-2896.2005.00236.x. PMID: 15661027

Therapy

Lai N, Liu L, Lin L, Cui C, Wang Y, Min Q, Xiong E, Wang W, Ying W, Zhou Q, Hou J, Sun J, Wang JY, Wang X
J Allergy Clin Immunol Pract 2020 Mar;8(3):1132-1135.e4. Epub 2019 Oct 9 doi: 10.1016/j.jaip.2019.09.027. PMID: 31605764

Prognosis

Baş Z, Bayraktutar BN, Uçakhan ÖÖ
Eye Contact Lens 2018 Jan;44(1):e1-e3. doi: 10.1097/ICL.0000000000000346. PMID: 29252577
Atkinson TP
Curr Opin Rheumatol 2012 Sep;24(5):515-21. doi: 10.1097/BOR.0b013e32835680c6. PMID: 22820513

Clinical prediction guides

Tsuda M, Torgerson TR, Selmi C, Gambineri E, Carneiro-Sampaio M, Mannurita SC, Leung PS, Norman GL, Gershwin ME
J Autoimmun 2010 Nov;35(3):265-8. Epub 2010 Jul 22 doi: 10.1016/j.jaut.2010.06.017. PMID: 20650610

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