| 1. |
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
- Rezaei, N, et al.
(författare)
-
Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia
- 2008
-
Ingår i: International archives of allergy and immunology. - : S. Karger AG. - 1423-0097 .- 1018-2438. ; 147:3, s. 255-259
-
Tidskriftsartikel (refereegranskat)abstract
- Severe congenital neutropenia (SCN) and CD40 ligand deficiency (CD40LD) are two primary immunodeficiency diseases caused by different underlying genetic defects. In this report, we present a case who clinically presented as a SCN patient, but subsequent mutation analysis of this patient was compatible with CD40LD. The patient is a 3-year-old boy, who was referred to our center because of pneumonia, oral and anal ulcers, and periodontitis. As severe consistent neutropenia and maturation arrest in the myeloid series were observed in the bone marrow, a diagnosis of SCN was made. However, no mutations were found in the <i>ELA2</i> and <i>HAX1</i> genes. As functional T cell defects were observed, we suspected CD40LD. DNA sequencing showed a 17-base pair deletion in the <i>CD40L</i> gene. Although the patient did not have a decreased serum level of IgA, and his serum IgM level was within the normal range, the diagnosis of CD40LD was confirmed, suggesting that CD40LD should be suspected in any male patient with recurrent infections and neutropenia.
|
|
| 6. |
- Aghamohammadi, A, et al.
(författare)
-
Progression of selective IgA deficiency to common variable immunodeficiency
- 2008
-
Ingår i: International archives of allergy and immunology. - : S. Karger AG. - 1423-0097 .- 1018-2438. ; 147:2, s. 87-92
-
Tidskriftsartikel (refereegranskat)abstract
- Selective IgA deficiency (IgAD) is the most common primary immunodeficiency in Caucasians. Although it is often asymptomatic, selected patients show an increased frequency of infections, allergies and autoimmune manifestations. Common variable immunodeficiency (CVID) is a primary antibody deficiency disease that shares many clinical features with IgAD. A common genetic basis for IgAD and CVID has been suggested based on their occurrence in members of the same family and the similarity of the underlying B cell defects. Progression from IgAD to CVID has also been reported in several cases. Here we present 4 patients with IgAD and autoimmune features who subsequently developed CVID. All symptomatic IgAD patients, especially those with associated IgG subclass deficiency or autoimmune features, should be monitored for evolution to CVID. Early diagnosis of this conversion and institution of immunoglobulin therapy is effective in preventing severe bacterial infections and pulmonary insufficiency.
|
|
| 7. |
|
|
| 8. |
|
|
