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Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease(PLTEID; IMD71)

MedGen UID:
1618052
Concept ID:
C4540232
Disease or Syndrome
Synonym: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
 
Gene (location): ARPC1B (7q22.1)
 
Monarch Initiative: MONDO:0060583
OMIM®: 617718

Definition

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]

Clinical features

From HPO
Vasculitis
MedGen UID:
12054
Concept ID:
C0042384
Disease or Syndrome
Inflammation of blood vessel.
Vasculitis in the skin
MedGen UID:
488809
Concept ID:
C0262988
Disease or Syndrome
A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Disease or Syndrome
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Bloody diarrhea
MedGen UID:
56232
Concept ID:
C0151594
Disease or Syndrome
Passage of many stools containing blood.
Eosinophilic colitis
MedGen UID:
75633
Concept ID:
C0267448
Disease or Syndrome
An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.
Inflammation of the large intestine
MedGen UID:
662273
Concept ID:
C0578878
Disease or Syndrome
Inflammation, or an inflammatory state in the large intestine.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Decreased mean platelet volume
MedGen UID:
853132
Concept ID:
C1096368
Finding
Average platelet volume below the lower limit of the normal reference interval.
Cellulitis
MedGen UID:
40174
Concept ID:
C0007642
Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Blepharitis
MedGen UID:
598
Concept ID:
C0005741
Disease or Syndrome
Inflammation of the eyelids.
Lymphocytosis
MedGen UID:
9834
Concept ID:
C0024282
Disease or Syndrome
Increase in the number or proportion of lymphocytes in the blood.
Meningitis
MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
Inflammation of the meninges.
Antinuclear antibody positivity
MedGen UID:
101792
Concept ID:
C0151480
Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Cervical lymphadenopathy
MedGen UID:
66724
Concept ID:
C0235592
Disease or Syndrome
Enlarged lymph nodes in the neck.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargement (swelling) of a lymph node.
Perinuclear antineutrophil antibody positivity
MedGen UID:
1696202
Concept ID:
C5139209
Laboratory or Test Result
The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.
Skin rash
MedGen UID:
1830322
Concept ID:
C5779628
Sign or Symptom
A red eruption of the skin.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Elevated circulating C-reactive protein concentration
MedGen UID:
892906
Concept ID:
C4023452
Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Subconjunctival hemorrhage
MedGen UID:
21363
Concept ID:
C0038534
Pathologic Function
Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.

Recent clinical studies

Etiology

Gamallat Y, Zaaluk H, Kish EK, Abdelsalam R, Liosis K, Ghosh S, Bismar TA
Int J Mol Sci 2022 Jan 27;23(3) doi: 10.3390/ijms23031476. PMID: 35163398Free PMC Article

Prognosis

Gamallat Y, Zaaluk H, Kish EK, Abdelsalam R, Liosis K, Ghosh S, Bismar TA
Int J Mol Sci 2022 Jan 27;23(3) doi: 10.3390/ijms23031476. PMID: 35163398Free PMC Article

Clinical prediction guides

Gamallat Y, Zaaluk H, Kish EK, Abdelsalam R, Liosis K, Ghosh S, Bismar TA
Int J Mol Sci 2022 Jan 27;23(3) doi: 10.3390/ijms23031476. PMID: 35163398Free PMC Article

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