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Recurrent infections associated with rare immunoglobulin isotypes deficiency

ORPHA:183675DiseaseUnknownChildhood

Ассоциированные гены (2)

IGHG2
immunoglobulin heavy constant gamma 2 (G2m marker)
Disease-causing germline mutation(s) in
OMIM: 147110
IGKC
immunoglobulin kappa constant
Disease-causing germline mutation(s) in
OMIM: 147200

Фенотипы (47)

Частый (30–79%)8
HP:0002099Asthma
HP:0002205Recurrent respiratory infections
HP:0002718Recurrent bacterial infections
HP:0002719Recurrent infections
HP:0002783Recurrent lower respiratory tract infections
HP:0002788Recurrent upper respiratory tract infections
HP:0002960Autoimmunity
HP:0032169Severe infection
Периодический (5–29%)20
HP:0000010Recurrent urinary tract infections
HP:0000403Recurrent otitis media
HP:0001047Atopic dermatitis
HP:0001369Arthritis
HP:0002090Pneumonia
HP:0002110Bronchiectasis
HP:0002720Decreased circulating IgA level
HP:0002725Systemic lupus erythematosus
HP:0002829Arthralgia
HP:0002850Decreased circulating total IgM
HP:0003193Allergic rhinitis
HP:0003326Myalgia
HP:0004315Decreased circulating IgG level
HP:0005231Chronic gastritis
HP:0006532Recurrent pneumonia
HP:0011109Chronic sinusitis
HP:0011110Recurrent tonsillitis
HP:0012378Fatigue
HP:0012387Bronchitis
HP:0020096Recurrent streptococcal infections
Очень редкий (1–4%)19
HP:0000031Epididymitis
HP:0000819Diabetes mellitus
HP:0000988Skin rash
HP:0001082Cholecystitis
HP:0001370Rheumatoid arthritis
HP:0002608Celiac disease
HP:0002665Lymphoma
HP:0003765Psoriasiform dermatitis
HP:0005353Recurrent herpes
HP:0006562Viral hepatitis
HP:0012476Specific pneumococcal antibody deficiency
HP:0030151Cholangitis
HP:0030998Cerebrospinal fluid rhinorrhoea
HP:0032262Pulmonary tuberculosis
HP:0032275Recurrent shingles
HP:0100324Scleroderma
HP:0100523Liver abscess
HP:0100806Sepsis
HP:0500093Food allergy

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы