Absence of bactericidal oxidative respiratory burst in phagocytes
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent Staphylococcus aureus infections
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypermelanotic macule
|
phenotype |
|
Finding
|
59
|
2
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Skin Ulcer
|
phenotype |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
151
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased activity of NADPH oxidase
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Photosensitivity of skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
91
|
3
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption, CTCAE
|
phenotype |
|
Finding
|
175
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent Aspergillus infections
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent Serratia marcescens infections
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Sinusitis
|
disease |
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Cellulitis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases
|
Pathologic Function
|
38
|
1
|
0.100 |
None |
|
0 |
|
|
|
Neutrophil abnormality
|
phenotype |
|
Finding
|
74
|
1
|
0.100 |
None |
|
0 |
|
|
|
Autosomal Recessive Chronic Granulomatous Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
7
|
|
0.040 |
None |
0.750 |
4 |
|
1989 |
2019 |
Chronic granulomatous disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
105
|
23
|
0.400 |
None |
1.000 |
67 |
3
|
1990 |
2020 |
Aortic Valve Insufficiency
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
377
|
8
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Granulomatous Disease, Chronic, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
42
|
75
|
0.060 |
None |
1.000 |
6 |
|
1998 |
2019 |
Osteomyelitis
|
disease |
Infections; Musculoskeletal Diseases
|
Disease or Syndrome
|
121
|
14
|
0.110 |
None |
1.000 |
1 |
|
1998 |
1998 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
8
|
0.700 |
strong |
1.000 |
3 |
8
|
2000 |
2013 |
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
33
|
22
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
X-Linked Lymphoproliferative Disorder
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
49
|
10
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
X-linked agammaglobulinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
68
|
69
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
ZAP70 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
4
|
8
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
284
|
46
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Bloom Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
155
|
132
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |