Phenotypes associated with the disease Selective IgM deficiency (ORPHA:331235):
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:331235)
- Severe infection (HP:0032169): A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:331235)
- Atopic dermatitis (HP:0001047): Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Verrucae (HP:0200043): Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:331235)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:331235)
- Chronic fatigue (HP:0012432): Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Nontuberculous mycobacterial pulmonary infection (HP:0032261): An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Pulmonary tuberculosis (HP:0032262): A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331235)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Rheumatoid arthritis (HP:0001370): Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Autoimmune neutropenia (HP:0001904): Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Recurrent vulvovaginal candidiasis (HP:0012204): Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Lymphadenitis (HP:0002840): Inflammation of a lymph node. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Recurrent herpes (HP:0005353): Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Otitis media (HP:0000388): Inflammation or infection of the middle ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Pharyngitis (HP:0025439): Inflammation (due to infection or irritation) of the pharynx. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Severe viral infection (HP:0031691): An unusually severe viral infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Tooth abscess (HP:0030757): A pocket of pus located within a region of a tooth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Non-infectious meningitis (HP:0033430): Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Recurrent cutaneous fungal infections (HP:0011370): Increased susceptibility to cutaneous fungal infections as manifested by recurrent episodes of cutaneous fungal infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Recurrent staphylococcal infections (HP:0007499): Increased susceptibility to staphylococcal infections as manifested by recurrent episodes of staphylococcal infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Fasciitis (HP:0100537): Inflammation of fascia, the tissue under the skin and over the muscle. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Recurrent bronchitis (HP:0002837): An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Cutaneous abscess (HP:0031292): A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Recurrent shingles (HP:0032275): Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Unusual fungal nail infection (HP:0012203): Increased susceptibility to fungal infection of the nail apparatus (onychomycosis), as manifested by recurrent or severe infection of the nail plate, nail bed, or nail matrix caused by fungal organisms. Causative agents include dermatophytes (Trichophyton species) and Candida species. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Recurrent oral thrush (HP:0009098): Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Severe varicella zoster infection (HP:0032170): An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Allergy (HP:0012393): An allergy is an immune response or reaction to substances that are usually not harmful. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331235)
- Allergic rhinitis (HP:0003193): It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Paraproteinemia (HP:0031047): An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Multiple myeloma (HP:0006775): A malignant plasma cell tumor growing within soft tissue or within the skeleton. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Non-Hodgkin lymphoma (HP:0012539): A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Stomach cancer (HP:0012126): A cancer arising in any part of the stomach. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Decreased total T cell count (HP:0005403): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Decreased total CD4+ T cell proportion (HP:0032218): Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Decreased total CD8+ T cell proportion (HP:0005415): Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Decreased transitional B cell proportion (HP:0030380): Abnormal decrease of the transitional B cell subpopulation, commonly characterized as CD27-CD24hiCD38hi or CD27-IgMhiCD38hi, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Decreased specific antibody response to vaccination (HP:0032140): A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331235)
- Crohn's disease (HP:0100280): A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331235)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331235)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331235)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331235)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Recurrent infection of the gastrointestinal tract (HP:0004798): Recurrent infection of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331235)
Not associated with this disease:
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: TAS. (ORPHA:331235)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: TAS. (ORPHA:331235)