Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.

An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.

Slow or limited growth after birth.

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

Abnormally increased size of the liver.

Simultaneous enlargement of the liver and spleen.

Repeated episodes of diarrhea separated by periods without diarrhea.

A reduction in erythrocytes volume or hemoglobin concentration.

Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.

An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).

A reduction in the number of circulating thrombocytes.

A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.

A reduced count of megakaryocytes.

The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.

Head circumference below 2 standard deviations below the mean for age and gender.

A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.

Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.

An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.

An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.

An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

Respiratory difficulty as newborn.

On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.

An autoimmune form of hemolytic anemia.

The occurrence of an immune reaction against the organism's own cells or tissues.

Increased count of eosinophils in the blood.

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

An abnormal decreased number of leukocytes in the blood.

A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.

A reduced number of lymphocytes in the blood.

Inflammation of any part of the lung parenchyma.

Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.

Abnormal increased size of the spleen.

Decreased levels of immunoglobulin A (IgA).

An abnormally decreased level of immunoglobulin M (IgM) in blood.

The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.

Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.

Otitis media characterized by thick or sticky fluid behind the tympanic membrane.

Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.

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.

An abnormally increased level of immunoglobulin M in blood.

Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection.

The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group.

The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal.

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.

An abnormally decreased level of immunoglobulin in blood.

An abnormally decreased level of immunoglobulin G (IgG) in blood.

An abnormally decreased proportion of naive T cells relative to the total number of T cells.

Abnormal increase or decrease of the absolute number of cytotoxic CD3+CD8+ T cells (measured the absolute count per volume or 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.

An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.

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.

An abnormal deviation from normal levels of IgM immunoglobulin in blood.

Def

Abnormal increase or decrease of absolute number of helper CD3+CD4+ T cells (either count per volume or percentage of total lymphocytes), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.

A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.

Body temperature elevated above the normal range.

The concentration of potassium(1+) in the blood circulation is below the lower limit of normal.

Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.

Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition.\n\nIn most people with alopecia areata, hair falls out in small, round patches, leaving coin-sized areas of bare skin. This patchy hair loss occurs most often on the scalp but can affect other parts of the body as well. Uncommonly, the hair loss involves the entire scalp (in which case the condition is known as alopecia totalis) or the whole body (alopecia universalis). Other rare forms of alopecia areata, which have different patterns of hair loss, have also been reported.\n\nAlopecia areata affects people of all ages, although it most commonly appears in adolescence or early adulthood. Hair loss occurs over a period of weeks. The hair usually grows back after several months, although it may fall out again. In some cases, unpredictable cycles of hair loss followed by regrowth can last for years. In addition to hair loss, some affected individuals have fingernail and toenail abnormalities, such as pits on the surface of the nails.\n\nThe hair loss associated with alopecia areata is not painful or disabling. However, it causes changes in a person's appearance that can profoundly affect quality of life and self-esteem. In some people, the condition can lead to depression, anxiety, and other emotional or psychological issues.

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.