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Items: 4

1.

Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease

Immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia (IMD71) is an autosomal recessive immunologic disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood. Infectious agents include bacteria and viruses. Laboratory findings are variable, but usually show thrombocytopenia, sometimes with abnormal platelet morphology, increased serum IgE, IgA, or IgM, leukocytosis, decreased or increased T lymphocytes, and increased eosinophils. Detailed studies show impaired neutrophil and T-cell chemotaxis, as well as impaired T-cell activation due to defects in F-actin (see 102610) polymerization (summary by Brigida et al., 2018). [from OMIM]

MedGen UID:
1618052
Concept ID:
C4540232
Disease or Syndrome
2.

Immunodeficiency 11b with atopic dermatitis

IMD11B is an autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia (summary by Ma et al., 2017). [from OMIM]

MedGen UID:
1627819
Concept ID:
C4539957
Disease or Syndrome
3.

Autoinflammation, immune dysregulation, and eosinophilia

Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant disorder characterized by onset of severe atopic dermatitis and chronic gastrointestinal inflammation, mainly involving the colon, in infancy or early childhood. Affected individuals tend to have asthma and food or environmental allergies, as well as poor overall growth with short stature. Severe liver involvement has also been reported (Takeichi et al., 2021). Laboratory studies show increased eosinophils with normal or increased IgE levels, as well as evidence of a hyperactive immune state, including increased erythrocyte sedimentation rate and C-reactive protein. Treatment with JAK inhibitors, such as ruxolitinib and tofacitinib, results in dramatic clinical improvement (summary by Gruber et al., 2020). [from OMIM]

MedGen UID:
1750270
Concept ID:
C5436572
Disease or Syndrome
4.

Eosinophilic colitis

An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon. [from HPO]

MedGen UID:
75633
Concept ID:
C0267448
Disease or Syndrome
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