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1.

Autosomal dominant hyper-IgE syndrome

2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles. [from ORDO]

MedGen UID:
831161
Concept ID:
CN201493
Disease or Syndrome
2.

Hyper-IgE syndrome

MedGen UID:
797367
Concept ID:
CN204280
Disease or Syndrome
3.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI_NCI-GLOSS]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
4.

Idiopathic generalized epilepsy

Idiopathic generalized epilepsy is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA; see 600131), juvenile absence epilepsy (JAE, EJA; see 607631), juvenile myoclonic epilepsy (JME, EJM; see 254770), and epilepsy with grand mal seizures on awakening (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). These recurrent seizures occur in the absence of detectable brain lesions and/or metabolic abnormalities. Seizures are initially generalized with a bilateral, synchronous, generalized, symmetrical EEG discharge (Zara et al., 1995; Lu and Wang, 2009). See also childhood absence epilepsy (ECA1; 600131), which has also been mapped to 8q24. Of note, benign neonatal epilepsy 2 (EBN2; 121201) is caused by mutation in the KCNQ3 gene (602232) on 8q24. Genetic Heterogeneity of Idiopathic Generalized Epilepsy EIG1 has been mapped to chromosome 8q24. Other loci or genes associated with EIG include EIG2 (606972) on 14q23; EIG3 (608762) on 9q32; EIG4 (609750) on 10q25; EIG5 (611934) on 10p11; EIG6 (611942), caused by mutation in the CACNA1H gene (607904) on 16p; EIG7 (604827) on 15q14; EIG8 (612899), caused by mutation in the CASR gene (601199) on 3q13.3-q21; EIG9 (607682), caused by mutation in the CACNB4 gene (601949) on 2q22-q23; EIG10 (613060), caused by mutation in the GABRD gene (137163) on 1p36.3; EIG11 (607628), caused by variation in the CLCN2 gene (600570) on 3q36; EIG12 (614847), caused by mutation in the SLC2A1 gene (138140) on 1p34; EIG13 (611136), caused by mutation in the GABRA1 gene (137160) on 5q34; and EIG14 (616685), caused by mutation in the SLC12A5 gene (606726) on 20q12. [from OMIM]

MedGen UID:
75725
Concept ID:
C0270850
Disease or Syndrome
5.

Hyperimmunoglobulin E syndrome

Autosomal dominant hyper IgE syndrome (AD-HIES) is a primary immune deficiency characterized by the classic triad of recurrent skin boils, cyst-forming pneumonias, and extreme elevations of serum IgE. It is now recognized that other common manifestations include eczema, mucocutaneous candidiasis, and several connective tissue and skeletal abnormalities. A rash in the newborn period subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatocoeles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. A characteristic facial appearance typically emerges in adolescence. Skeletal abnormalities include osteopenia, minimal trauma fractures, and scoliosis. Vascular abnormalities include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease; esophageal dysmotility; and rarely colonic perforations, some of which are associated with diverticuli. Fungal infection of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, but life span is often shortened. Most deaths are associated with Gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency. [from GeneReviews]

MedGen UID:
43995
Concept ID:
C0022398
6.

Candidiasis

A condition in which Candida albicans, a type of yeast, grows out of control in moist skin areas of the body. It is usually a result of a weakened immune system, but can be a side effect of chemotherapy or treatment with antibiotics. Thrush usually affects the mouth (oral thrush); however, rarely, it spreads throughout the entire body. [from NCI]

MedGen UID:
14299
Concept ID:
C0006840
Disease or Syndrome
7.

Bacterial Infections

Bacteria are living things that have only one cell. Under a microscope, they look like balls, rods, or spirals. They are so small that a line of 1,000 could fit across a pencil eraser. Most bacteria won't hurt you - less than 1 percent of the different types make people sick. Many are helpful. Some bacteria help to digest food, destroy disease-causing cells, and give the body needed vitamins. Bacteria are also used in making healthy foods like yogurt and cheese. But infectious bacteria can make you ill. They reproduce quickly in your body. Many give off chemicals called toxins, which can damage tissue and make you sick. Examples of bacteria that cause infections include Streptococcus, Staphylococcus, and E. coli. Antibiotics are the usual treatment. When you take antibiotics, follow the directions carefully. Each time you take antibiotics, you increase the chances that bacteria in your body will learn to resist them causing antibiotic resistance. Later, you could get or spread an infection that those antibiotics cannot cure. NIH: National Institute of Allergy and Infectious Diseases.  [from MedlinePlus]

MedGen UID:
14012
Concept ID:
C0004623
Disease or Syndrome
8.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
9.

Streptokinase

Streptococcal fibrinolysin . An enzyme produced by hemolytic streptococci. It hydrolyzes amide linkages and serves as an activator of plasminogen. It is used in thrombolytic therapy and is used also in mixtures with streptodornase (STREPTODORNASE AND STREPTOKINASE). EC 3.4.-. [from MeSH]

MedGen UID:
11610
Concept ID:
C0038418
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
10.

Cell-mediated immune reaction

An increased reactivity to specific antigens mediated not by antibodies but by cells. [from MeSH]

MedGen UID:
9371
Concept ID:
C0020522
Pathologic Function
11.

Allergy

An allergy is a reaction by your immune system to something that does not bother most other people. People who have allergies often are sensitive to more than one thing. Substances that often cause reactions are. -Pollen. -Dust mites. -Mold spores. -Pet dander. -Food. -Insect stings. -Medicines. Normally, your immune system fights germs. It is your body's defense system. In most allergic reactions, however, it is responding to a false alarm. Genes and the environment probably both play a role. Allergies can cause a variety of symptoms such as a runny nose, sneezing, itching, rashes, swelling, or asthma. Allergies can range from minor to severe. Anaphylaxis is a severe reaction that can be life-threatening. Doctors use skin and blood tests to diagnose allergies. Treatments include medicines, allergy shots, and avoiding the substances that cause the reactions. NIH: National Institute of Allergy and Infectious Diseases.  [from MedlinePlus]

MedGen UID:
9370
Concept ID:
C0020517
Pathologic Function
12.

Interferon Type II

The major interferon produced by mitogenically or antigenically stimulated LYMPHOCYTES. It is structurally different from TYPE I INTERFERON and its major activity is immunoregulation. It has been implicated in the expression of CLASS II HISTOCOMPATIBILITY ANTIGENS in cells that do not normally produce them, leading to AUTOIMMUNE DISEASES. [from MeSH]

MedGen UID:
5846
Concept ID:
C0021745
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
13.

Eczematous rash

Eczema is a term for several different types of skin swelling. Eczema is also called dermatitis. Most types cause dry, itchy skin and rashes on the face, inside the elbows and behind the knees, and on the hands and feet. Scratching the skin can cause it to turn red, and to swell and itch even more. Eczema is not contagious. The cause is not known. It is likely caused by both genetic and environmental factors. Eczema may get better or worse over time, but it is often a long-lasting disease. People who have it may also develop hay fever and asthma. The most common type of eczema is atopic dermatitis. It is most common in babies and children but adults can have it too. As children who have atopic dermatitis grow older, this problem may get better or go away. But sometimes the skin may stay dry and get irritated easily. Treatments may include medicines, skin creams, light therapy, and good skin care. You can prevent some types of eczema by avoiding. -Things that irritate your skin, such as certain soaps, fabrics, and lotions. -Stress. -Things you are allergic to, such as food, pollen, and animals. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
14.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
15.

Recurrent pneumonia

An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. [from HPO]

MedGen UID:
892813
Concept ID:
C0748140
Disease or Syndrome
16.

Infections

MedGen UID:
833099
Concept ID:
CN228891
Finding
17.

Unable

A response indicating that an individual cannot do something. [from NCI]

MedGen UID:
721425
Concept ID:
C1299582
Finding
18.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
19.

Chronic mucocutaneous candidiasis

Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. [from HPO]

MedGen UID:
505337
Concept ID:
CN002478
Finding
20.

Eczema

Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. [from HPO]

MedGen UID:
504663
Concept ID:
CN000902
Finding
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