Immunodeficiency due to Defect in CD3-Epsilon
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
IMMUNODEFICIENCY 18, SCID VARIANT
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
IMMUNODEFICIENCY 18
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.600 |
strong |
1.000 |
3 |
3
|
1993 |
2004 |
Lymphoid depletion
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Recurrent gastroenteritis
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent abscess formation
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Failure to thrive secondary to recurrent infections
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Chronic oral candidiasis
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
Decreased proportion of CD3-positive T cells
|
phenotype |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Lymphomatoid Granulomatosis
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
11
|
1
|
0.010 |
None |
< 0.001 |
1 |
|
1995 |
1995 |
Recurrent candida infections
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased lymphocyte proliferation in response to mitogen
|
phenotype |
|
Cell or Molecular Dysfunction
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Endocervical adenocarcinoma
|
disease |
|
Neoplastic Process
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Endocervical Carcinoma
|
disease |
|
Neoplastic Process
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Protracted diarrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
T-lymphocyte immunodeficiency
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
15
|
2
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Antibody Deficiency Syndrome
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
21
|
|
0.300 |
None |
1.000 |
1 |
|
1993 |
1993 |
Bare Lymphocyte Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Increased antibody level in blood
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Lymphoma, Extranodal NK-T-Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
33
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Omenn Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
35
|
48
|
0.310 |
None |
1.000 |
2 |
|
2004 |
2012 |
Reticuloendotheliosis, X-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Neoplastic Process
|
48
|
1
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Recurrent pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Finding
|
62
|
11
|
0.100 |
None |
|
0 |
|
|
|
Exfoliative dermatitis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
64
|
2
|
0.100 |
None |
|
0 |
|
|
|