Arthritis, and Otitis media
Diseases related with Arthritis and Otitis media
In the following list you will find some of the most common rare diseases related to Arthritis and Otitis media that can help you solving undiagnosed cases.
AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT; AGM8 Is also known as agammaglobulinemia, autosomal dominant, due to tcf3 defectRelated symptoms:
- Recurrent otitis media
- B lymphocytopenia
More info about AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT; AGM8
Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.
SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY Is also known as scid, t cell-negative, b cell-negative, nk cell-positive|scid due to complete rag1/2 deficiencyRelated symptoms:
- Failure to thrive
More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY
Low match IMMUNODEFICIENCY WITH FACTOR I ANOMALY
Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.
IMMUNODEFICIENCY WITH FACTOR I ANOMALY Is also known as complement component 3 inactivator deficiency|c3 inactivator deficiencyRelated symptoms:
- Renal insufficiency
- Recurrent infections
- Recurrent respiratory infections
More info about IMMUNODEFICIENCY WITH FACTOR I ANOMALY
Other less relevant matches:
Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.
LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiencyRelated symptoms:
- Intellectual disability
- Short stature
- Generalized hypotonia
- Intellectual disability, severe
More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 Is also known as hypogammaglobulinemia and isolated growth hormone deficiency, x-linked|ighd iii|fleisher syndrome|agammaglobulinemia and isolated growth hormone deficiency, x-linked|growth hormone deficiency with hypogammaglobulinemiaRelated symptoms:
- Short stature
- Hearing impairment
- Delayed skeletal maturation
More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3
Low match WHIM SYNDROME
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).
WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndromeRelated symptoms:
- Hearing impairment
- Congestive heart failure
More info about WHIM SYNDROME
Low match AUTOSOMAL AGAMMAGLOBULINEMIA
Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.
AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton typeRelated symptoms:
- Failure to thrive
- High palate
More info about AUTOSOMAL AGAMMAGLOBULINEMIA
Low match RIDDLE SYNDROME
A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).
RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficultiesRelated symptoms:
- Global developmental delay
- Short stature
More info about RIDDLE SYNDROME
Low match ASPARTYLGLUCOSAMINURIA
Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiencyRelated symptoms:
- Intellectual disability
- Abnormal facial shape
More info about ASPARTYLGLUCOSAMINURIA
Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).
COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiencyRelated symptoms:
- Growth delay
- Failure to thrive
More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY
Top 5 symptoms//phenotypes associated to Arthritis and Otitis media
|Symptoms // Phenotype||% cases|
|Pneumonia||Common - Between 50% and 80% cases|
|Immunodeficiency||Common - Between 50% and 80% cases|
|Meningitis||Common - Between 50% and 80% cases|
|Recurrent bacterial infections||Uncommon - Between 30% and 50% cases|
|Diarrhea||Uncommon - Between 30% and 50% cases|
Other less frequent symptoms
Patients with Arthritis and Otitis media. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% casesDecreased antibody level in blood Conjunctivitis Sinusitis Recurrent sinusitis Recurrent otitis media Recurrent respiratory infections Fever Respiratory tract infection Bronchiectasis Verrucae Cellulitis Short stature Chronic otitis media Recurrent skin infections Respiratory failure Neoplasm Recurrent urinary tract infections Neutropenia Septic arthritis Failure to thrive Recurrent infections Agammaglobulinemia Combined immunodeficiency B lymphocytopenia
Rare Symptoms - Less than 30% casesIntellectual disability Lymphoma Recurrent upper respiratory tract infections Panhypogammaglobulinemia Osteomyelitis Hypertelorism IgA deficiency IgM deficiency Tonsillitis IgG deficiency Abnormal lung morphology Periodontitis Splenomegaly Malabsorption Carious teeth Interstitial pulmonary abnormality Generalized lymphadenopathy Sepsis Abnormal facial shape Congestive heart failure Purpura Encephalitis Delayed skeletal maturation Hearing impairment Bronchitis Recurrent pneumonia Recurrent enteroviral infections Chronic diarrhea Leukocytosis Coarse facial features Restrictive ventilatory defect Mandibular prognathia Inguinal hernia Demyelinating peripheral neuropathy Short nose Increased sensitivity to ionizing radiation Recurrent viral infections Mild global developmental delay Chronic sinusitis Conjunctival telangiectasia Elevated alpha-fetoprotein Enuresis nocturna Episodic fever Intraventricular hemorrhage Neonatal asphyxia Behavioral abnormality Chromosomal breakage induced by ionizing radiation Poor hand-eye coordination Seizures Scoliosis Delayed speech and language development Hepatomegaly Wide nasal bridge Abnormality of the dentition Umbilical hernia Macroorchidism Pes planus Fatigable weakness Hemolytic anemia Asthma Pancytopenia Inflammatory abnormality of the skin Type I diabetes mellitus Abnormal intestine morphology Clubbing Inflammation of the large intestine Colitis Autoimmune hemolytic anemia Autoimmune thrombocytopenia Autoimmunity Exocrine pancreatic insufficiency Chronic lung disease Clubbing of fingers Villous atrophy Brain neoplasm Cor pulmonale Immune dysregulation Gastritis Interstitial pneumonitis Follicular hyperplasia Lymphadenopathy Hepatosplenomegaly Joint stiffness Abnormality of the ulna Pectus carinatum Microtia Neurological speech impairment Thick vermilion border Dyskinesia Sleep disturbance Macroglossia Gingival overgrowth Abnormal vertebral morphology Thickened calvaria Emotional lability Hypothyroidism Beaking of vertebral bodies Abnormal cortical bone morphology Large face Vascular skin abnormality Anterior beaking of lumbar vertebrae Abnormality of amino acid metabolism Aspartylglucosaminuria Growth delay Anemia Thrombocytopenia Diabetes mellitus Pulmonary fibrosis Epicanthus Scaling skin Confusion Decreased serum complement factor B Decreased serum complement factor H Decreased serum complement factor I Glomerular deposits Recurrent Haemophilus influenzae infections Generalized hypotonia Intellectual disability, severe Bruising susceptibility Recurrent meningococcal disease Abnormal bleeding Epistaxis Rheumatoid arthritis Gingivitis Peritonitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Recurrent bacterial skin infections Recurrent meningitis Recurrent streptococcus pneumoniae infections Decreased platelet glycoprotein IIb-IIIa Proteinuria Lymphopenia Severe combined immunodeficiency Hypoplasia of the thymus Decrease in T cell count Mastoiditis Recurrent opportunistic infections Failure to thrive secondary to recurrent infections Renal insufficiency Hematuria Decreased serum complement C3 Vasculitis Chronic kidney disease Systemic lupus erythematosus Glomerulonephritis Nephritis Pyelonephritis Hemolytic-uremic syndrome Mesangial hypercellularity Rectal abscess Severe periodontitis Telangiectasia Ataxia Cough Dehydration Hepatitis External ear malformation Crohn's disease Global developmental delay Microcephaly Gait disturbance Fatigue Headache Abdominal pain Weight loss Erythema Abnormality of the cerebral white matter Dry skin Specific learning disability Clumsiness Skin rash High palate Abnormal granulocyte morphology Enteroviral hepatitis Recurrent staphylococcal infections Recurrent gram-negative bacterial infections Growth hormone deficiency Recurrent sinopulmonary infections Pyoderma Epididymitis Prostatitis Enteroviral dermatomyositis syndrome Carcinoma Myelokathexis B-cell lymphoma Atelectasis Abnormality of female internal genitalia Abnormality of female external genitalia Abnormality of bone marrow cell morphology Folliculitis Hypersegmentation of neutrophil nuclei Bone marrow hypercellularity Burkitt lymphoma
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