Abstract
Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by an increased incidence of autoimmunity, malignancy, microthrombocytes with thrombocytopenia, eczema, and recurrent infections. In this case report, we present a novel mutation, hemizygous for c.1125-1129delTGGAC mutation in the WAS gene, and a unique clinical presentation. Our patient was initially diagnosed with a milk protein allergy after presenting with a lower gastrointestinal bleed, leukopenia, and thrombocytopenia with normal platelet volume. However, signs of vasculitis and detection of microthrombocytes required additional testing and consideration of WAS. This case report illustrates the importance of retaining a high index of clinical suspicion despite normal platelet volume, as well as adding to the growing number of known mutations associated with WAS.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 515-518 |
| Number of pages | 4 |
| Journal | Journal of Pediatric Hematology/Oncology |
| Volume | 37 |
| Issue number | 7 |
| State | Published - Oct 1 2015 |
| Externally published | Yes |
Fingerprint
Keywords
- New mutation
- Normal platelet volume
- Wiskott-Aldrich syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Oncology
- Hematology
Cite this
Wiskott-Aldrich syndrome : Description of a new gene mutation with normal platelet volume. / Yoonessi, Leila; Randhawa, Inderpal; Nussbaum, Eliezer; Saharti, Samah; Do, Paul; Chin, Terry; Zwerdling, Theodore.
In: Journal of Pediatric Hematology/Oncology, Vol. 37, No. 7, 01.10.2015, p. 515-518.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Wiskott-Aldrich syndrome
T2 - Description of a new gene mutation with normal platelet volume
AU - Yoonessi, Leila
AU - Randhawa, Inderpal
AU - Nussbaum, Eliezer
AU - Saharti, Samah
AU - Do, Paul
AU - Chin, Terry
AU - Zwerdling, Theodore
PY - 2015/10/1
Y1 - 2015/10/1
N2 - Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by an increased incidence of autoimmunity, malignancy, microthrombocytes with thrombocytopenia, eczema, and recurrent infections. In this case report, we present a novel mutation, hemizygous for c.1125-1129delTGGAC mutation in the WAS gene, and a unique clinical presentation. Our patient was initially diagnosed with a milk protein allergy after presenting with a lower gastrointestinal bleed, leukopenia, and thrombocytopenia with normal platelet volume. However, signs of vasculitis and detection of microthrombocytes required additional testing and consideration of WAS. This case report illustrates the importance of retaining a high index of clinical suspicion despite normal platelet volume, as well as adding to the growing number of known mutations associated with WAS.
AB - Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by an increased incidence of autoimmunity, malignancy, microthrombocytes with thrombocytopenia, eczema, and recurrent infections. In this case report, we present a novel mutation, hemizygous for c.1125-1129delTGGAC mutation in the WAS gene, and a unique clinical presentation. Our patient was initially diagnosed with a milk protein allergy after presenting with a lower gastrointestinal bleed, leukopenia, and thrombocytopenia with normal platelet volume. However, signs of vasculitis and detection of microthrombocytes required additional testing and consideration of WAS. This case report illustrates the importance of retaining a high index of clinical suspicion despite normal platelet volume, as well as adding to the growing number of known mutations associated with WAS.
KW - New mutation
KW - Normal platelet volume
KW - Wiskott-Aldrich syndrome
UR - http://www.scopus.com/inward/record.url?scp=84941923310&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84941923310&partnerID=8YFLogxK
M3 - Article
C2 - 26241726
AN - SCOPUS:84941923310
VL - 37
SP - 515
EP - 518
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
SN - 1077-4114
IS - 7
ER -