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Selective IgM deficiency

ORPHA:331235DiseaseAll ages

Фенотипы (64)

Очень частый (80–99%)4
HP:0002719Recurrent infections
HP:0032169Severe infection
HP:0002850Decreased circulating total IgM
HP:0002205Recurrent respiratory infections
Частый (30–79%)6
HP:0002960Autoimmunity
HP:0012393Allergy
HP:0032140Decreased specific antibody response to vaccination
HP:0002788Recurrent upper respiratory tract infections
HP:0006532Recurrent pneumonia
HP:0011108Recurrent sinusitis
Периодический (5–29%)38
HP:0001047Atopic dermatitis
HP:0001510Growth delay
HP:0200043Verrucae
HP:0030880Raynaud phenomenon
HP:0012432Chronic fatigue
HP:0000491Keratitis
HP:0011109Chronic sinusitis
HP:0000010Recurrent urinary tract infections
HP:0002110Bronchiectasis
HP:0032261Nontuberculous mycobacterial pulmonary infection
HP:0002725Systemic lupus erythematosus
HP:0001370Rheumatoid arthritis
HP:0001973Autoimmune thrombocytopenia
HP:0001904Neutropenia in presence of anti-neutropil antibodies
HP:0003493Antinuclear antibody positivity
HP:0012204Recurrent vulvovaginal candidiasis
HP:0100658Cellulitis
HP:0005353Recurrent herpes
HP:0000388Otitis media
HP:0025439Pharyngitis
HP:0031691Severe viral infection
HP:0033430Non-infectious meningitis
HP:0011370Recurrent cutaneous fungal infections
HP:0007499Recurrent staphylococcal infections
HP:0002837Recurrent bronchitis
HP:0031292Cutaneous abscess
HP:0009098Chronic oral candidiasis
HP:0002028Chronic diarrhea
HP:0003193Allergic rhinitis
HP:0002099Asthma
HP:0031047Paraproteinemia
HP:0045080Decreased proportion of CD3-positive T cells
HP:0032218Decreased proportion of CD4-positive T cells
HP:0030380Decreased proportion of transitional B cells
HP:0002716Lymphadenopathy
HP:0004798Recurrent infection of the gastrointestinal tract
HP:0001287Meningitis
HP:0100806Sepsis
Очень редкий (1–4%)14
HP:0032262Pulmonary tuberculosis
HP:0000872Hashimoto thyroiditis
HP:0002840Lymphadenitis
HP:0030757Tooth abscess
HP:0100537Fasciitis
HP:0032275Recurrent shingles
HP:0012203Onychomycosis
HP:0032170Severe varicella zoster infection
HP:0006775Multiple myeloma
HP:0012539Non-Hodgkin lymphoma
HP:0002890Thyroid carcinoma
HP:0012126Stomach cancer
HP:0005415Decreased proportion of CD8-positive T cells
HP:0100280Crohn's disease
Исключён (0%)2
HP:0002720Decreased circulating IgA level
HP:0004315Decreased circulating IgG level

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