SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
|
disease |
|
Finding
|
2
|
7
|
0.400 |
strong |
|
0 |
5
|
|
|
Reticuloendotheliosis, familial, with eosinophilia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Thick skin
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Recurrent bacterial infection
|
phenotype |
Infections
|
Finding
|
69
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent upper and lower respiratory tract infections
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Desquamation of skin soon after birth
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent viral infection
|
phenotype |
Infections
|
Finding
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Short toe
|
phenotype |
|
Finding
|
56
|
3
|
0.100 |
None |
|
0 |
|
|
|
Recurrent opportunistic infections
|
phenotype |
Infections
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent fungal infections
|
phenotype |
|
Finding
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
B lymphocytopenia
|
phenotype |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.100 |
None |
|
0 |
|
|
|
Hypoproteinemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
4
|
0.100 |
None |
|
0 |
|
|
|
Severe B lymphocytopenia
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Hepatosplenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Sign or Symptom
|
127
|
21
|
0.100 |
None |
|
0 |
|
|
|
Failure to thrive secondary to recurrent infections
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Lymphadenitis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
55
|
2
|
0.100 |
None |
|
0 |
|
|
|
Atypical lymphocyte
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Pneumonia, Interstitial
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
66
|
9
|
0.100 |
None |
|
0 |
|
|
|
Dry skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
159
|
12
|
0.100 |
None |
|
0 |
|
|
|
Lymphadenopathy
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
277
|
5
|
0.100 |
None |
|
0 |
|
|
|
Thyroiditis
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
104
|
7
|
0.100 |
None |
|
0 |
|
|
|
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.100 |
None |
|
0 |
|
|
|