behavior/neurological
pigmentation
|
• darker than the commonly known pigmentation umbrous
(J:163587)
|
|
• hair is black
|
digestive/alimentary system
immune system
| N |
• activated T cells exhibit normal IL2 production
|
|
• large and often multinucleated
• cytoplasm appears laminated, infrequently containing large crystals
|
|
• erythroid progenitor cells predominate
|
|
• includes hyperplasia of follicles and distention of medullary sinusoids with plasma cells
|
|
• of the skin, especially the ears
• presumably due to scratching
|
|
• see Itcha-18H
|
integument
|
• darker than the commonly known pigmentation umbrous
(J:163587)
|
|
• hair is black
|
|
• especially the ears
|
skin lesions
(
J:24934
)
hematopoietic system
|
• large and often multinucleated
• cytoplasm appears laminated, infrequently containing large crystals
|
|
• erythroid progenitor cells predominate
|
homeostasis/metabolism
|
• associated with pulmonary chronic interstitial inflammation and alveolar proteinosis
|
mortality/aging
|
• severe immune disease results in death between 4 and 6 months of age attributed to hypoxia
|
respiratory system
|
• large and often multinucleated
• cytoplasm appears laminated, infrequently containing large crystals
|
|
• a variable minimal infiltrate of neutrophils is seen
|
|
• many line alveoli and are large containing clear cytoplasmic vacuoles
|


Analysis Tools