Question: What are the symptoms of Immunodeficiency with hyper IgM type 1 ?
Answer: What are the signs and symptoms of Immunodeficiency with hyper IgM type 1? Symptoms and physical findings associated with hyper IgM syndrome usually become apparent in the first or second year of life. This condition may be characterized by recurrent pus-producing (pyogenic) bacterial infections of the upper and lower respiratory tract including the sinuses (sinusitis) and/or the lungs (pneumonitis or pneumonia); the middle ear (otitis media); the membrane that lines the eyelids and the white portions (sclera) of the eyes (conjunctivitis); the skin (pyoderma); and/or, in some cases, other areas. Other signs of the disease include enlarged tonsils, liver, and spleen, chronic diarrhea, and an increased risk of unusual or opportunistic infections and non-Hodgkins lymphoma. Opportunistic infections are infections caused by microorganisms that usually do not cause disease in individuals with fully functioning immune systems (non-immunocompromised) or widespread (systemic) overwhelming disease by microorganisms that typically cause only localized, mild infections. In individuals with Hyper-IgM Syndrome, such opportunistic infections may include those caused by Pneumocystis carinii, a microorganism that causes a form of pneumonia, or Cryptosporidium, a single-celled parasite (protozoa) that can cause infections of the intestinal tract. In addition, individuals with Hyper-IgM Syndrome are prone to certain autoimmune disorders affecting particular elements of the blood. Autoimmune attacks on red blood cells lead to anemia, while autoimmune destruction of infection-fighting neutrophils further increases the risk of infection. The range and severity of symptoms and physical features associated with this disorder may vary from case to case. The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence of lymph node germinal center - Autoimmune hemolytic anemia - Autoimmune thrombocytopenia - Autosomal recessive inheritance - Bronchiectasis - Decreased T cell activation - Diarrhea - Dysgammaglobulinemia - Epididymitis - Gingivitis - Hemolytic anemia - Hepatitis - Hepatomegaly - IgA deficiency - IgE deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Impaired memory B-cell generation - Increased IgM level - Lymphadenopathy - Myelodysplasia - Neutropenia - Osteomyelitis - Recurrent bacterial infections - Recurrent infection of the gastrointestinal tract - Recurrent respiratory infections - Recurrent upper and lower respiratory tract infections - Recurrent upper respiratory tract infections - Splenomegaly - Stomatitis - Thrombocytopenia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD