- Atrophic gastritis (HP:0002582): Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: PCS. Frequency: 1/4. (PMID:32562707)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/4. (PMID:32562707)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 2/3. (PMID:31308374)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Secretory diarrhea (HP:0005208): Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Elevated gamma-glutamyltransferase level (HP:0030948): Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Hodgkin lymphoma (HP:0012189): A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. Evidence: PCS. Frequency: 1/4. (PMID:32562707)
- 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: 3/4. (PMID:32562707)
- Perianal dermatitis (HP:0011131): The presence of a rash (change of color and texture) of the perianal skin. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- 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:31308374)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Hepatic failure (HP:0001399). Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Persistent EBV viremia (HP:0020072): Persistent or recurrent detection of Epstein-Barr virus (EBV) in the blood that occurs in the context of unusual susceptibility to infection. Evidence: PCS. Frequency: 3/4. (PMID:32562707)
- Cervical lymphadenopathy (HP:0025289): Enlarged lymph nodes in the neck. Evidence: PCS. Frequency: 1/4. (PMID:32562707)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/3. (PMID:31308374)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- 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: PCS. Frequency: 4/4. (PMID:32562707)
- Third degree atrioventricular block (HP:0001709): Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Severe cytomegalovirus infection (HP:0031692): An unusually severe infection by cytomegalovirus. Evidence: PCS. Frequency: 1/4. (PMID:32562707)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 2/2. (PMID:31308374)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Anasarca (HP:0012050): An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: PCS. Frequency: 2/3. (PMID:31308374)
- Premature rupture of membranes (HP:0001788): Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/4. (PMID:32562707)
- Biventricular hypertrophy (HP:0200128): Thickening of the heart walls in both ventricles. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Inverted nipples (HP:0003186): The presence of nipples that instead of pointing outward are retracted inwards. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Abnormal lymphocyte proliferation (HP:0031378): Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population. Evidence: PCS. Frequency: 1/4. (PMID:32562707)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Perinuclear antineutrophil antibody positivity (HP:0032229): The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. Evidence: PCS. Frequency: 2/7. (PMID:32562707;PMID:31308374)
- Necrotizing enterocolitis (HP:0033165): Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Increased fecal calprotectin level (HP:0034056): An increased amount of calprotectin in the feces. Evidence: PCS. Frequency: 1/1. (PMID:31308374)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: PCS. Frequency: 2/3. (PMID:31308374)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 1/4. (PMID:32562707)
- Anticardiolipin IgG antibody positivity (HP:0020136): The presence of circulating IgG autoantibodies to cardiolipin. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: PCS. Frequency: 2/2. (PMID:31308374)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 2/3. (PMID:31308374)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 2/3. (PMID:31308374)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/3. (PMID:31308374)
- Recurrent fungal infections (HP:0002841): Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. Evidence: PCS. Frequency: 2/2. (PMID:31308374)
These phenotypes are associated with the disease immunodeficiency 87 and autoimmunity (OMIM:619573).