Phenotypes associated with the disease autoimmune lymphoproliferative syndrome type 2B (OMIM:607271):
- Recurrent sinopulmonary infections (HP:0005425): An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 1/2. (PMID:12353035)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide (HP:0410300): The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- 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: PCS. Frequency: 2/2. (PMID:12353035)
- Recurrent herpes (HP:0005353): Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Defective B cell activation (HP:0005384): A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Reduced CD95-induced lymphocyte apoptosis (HP:0033278): Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Inverted CD4:CD8 ratio (HP:0033222): CD4:CD8 ratio less than 1, measured either as proportion of total CD3+ T cells, or in absolute numbers per microliter. These are usually measured within the TCR alpha/beta positive population. Normally there are relatively more CD4+ than CD8+ T cells. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:12353035)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Decreased T cell activation (HP:0005419): Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/2. (PMID:12353035)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 1/2. (PMID:12353035)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 1/2. (PMID:12353035)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 1/2. (PMID:12353035)