Farhad Abolnezhadian; Sara Iranparast; Fatemeh Ahmadpour
Abstract
Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a cause of immunodeficiency. In the current paper, we ...
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Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a cause of immunodeficiency. In the current paper, we reported a case of identical twin brothers with a novel STK4 mutation, one of whom showed clinical manifestations associated with this mutation with a delay of two years. The mutation in the STK4 gene was identified employing Whole Exome Sequencing (WES), and we described the probable reasons for this delay. We found that the STK4 genetic defect caused almost the same clinical symptoms of immunodeficiency in the twin brothers. Meanwhile, the severity of the disease was higher in one of them, which may be due to extra genetic defect in LRBA, and likely differences in the percentage of B lymphocyte population and CD4+/ CD8+ state.
Soheyla Alyasin; Farhad Abolnezhadian; Maryam Khoshkhui
Volume 12, Issue 3 , September 2015, , Pages 219-225
Abstract
Major histocompatibility complex (MHC) class II deficiency is a primary immunodeficiency disease characterized by abnormality of MHC class II molecules surface expression on peripheral blood lymphocytes and monocytes. Clinical manifestations include extreme susceptibility to viral, bacterial, and fungal ...
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Major histocompatibility complex (MHC) class II deficiency is a primary immunodeficiency disease characterized by abnormality of MHC class II molecules surface expression on peripheral blood lymphocytes and monocytes. Clinical manifestations include extreme susceptibility to viral, bacterial, and fungal infections but the immunodeficiency is not as severe as SCID (severe combined immunodeficiency), as evidenced by failure to develop disseminated infection after BCG vaccination. Therefore, MHC II deficiency with BCGosis, that is disseminated BCGitis, is not reported commonly. We report an interesting case of BCGosis after vaccination that was diagnosed to have probable MHC II deficiency.
Soheila Alyasin; Maryam Khoshkhui; Farhad Abolnezhadian
Volume 11, Issue 3 , September 2014, , Pages 217-220
Abstract
Background: Ataxia telangiectasia (AT) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. Regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (AIHA), are not generally expected in the course ...
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Background: Ataxia telangiectasia (AT) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. Regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (AIHA), are not generally expected in the course of AT, we present a patient with an unusual presentation of these two conditions. Case presentation: An otherwise seemingly normal girl, who had developed limping at the age of 11 months old, referred to Namazi Hospital, Shiraz, Iran, due to pallor and latitude at the age of 3 yrs and was diagnosed with AIHA. After 2 years of therapeutic course she developed ocular telangiectasia and ataxic gate. Conclusion: This case emphasizes the possibility of ataxia telangiectasia coexistence with autoimmune disorders and must be taken into consideration by physicians.
Soheila Alyasin; Farhad Abolnezhadian; Amir Rezaei
Volume 11, Issue 1 , March 2014, , Pages 59-63
Abstract
X-linked agamaglobulinemia (XLA) or Bruton’s disease is a genetic disease resulting from a mutation in the Bruton’s tyrosine kinase (Btk) gene. This mutation leads to B cell arrest during differentiation (1). This disease was first described by Ogden Bruton in 1952 (2). Approximately 85% ...
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X-linked agamaglobulinemia (XLA) or Bruton’s disease is a genetic disease resulting from a mutation in the Bruton’s tyrosine kinase (Btk) gene. This mutation leads to B cell arrest during differentiation (1). This disease was first described by Ogden Bruton in 1952 (2). Approximately 85% of the affected subjects are male (3). This disorder is inherited as an X-linked recessive trait. Carrier females have no symptoms but have a 50% chance for transmission of the disorder to each of their sons. It is now possible to determine if the fetus of a carrier mother has XLA (4). The prevalence of the disease ranges from 1 in 10,000 to 1 in 50,000 (1). Half of the affected individuals are diagnosed during the first year of life and more than 90% of them are diagnosed up to fifth year (3). Diagnosis of the disease is suggested by lymphoid hypoplasia (minimal or no tonsillar tissue and no palpable lymph node) and total immunoglobulins level less than 100 mg/dl. Isohemagglutinins and antibodies to antigens given during routine immunization are abnormally low in this disorder as well. Flow cytometry is an important test for this diagnosis (5). Patients with XLA are protected for the first few months of life by maternal antibody and therefore do not typically present clinically with infection until after 6 months of age, when the maternally-derived antibody level decreases significantly. After diagnosis, treatment includes replacement of intravenous immunoglobulin (IVIG), which significantly reduces the risk of infection (6). The most common organisms affecting these patients are Haemophilus influenza, Streptococcus pneumonia and Staphylococcus aureus (3). Based on our knowledge, 4 cases of XLA patients with normal IgG levels (above 500 mg/dl) and 5 cases of XLA subjects with near normal IgG levels (400-500 mg/dl) have been reported in the world (7). Here, we report a case of Bruton’s disease as the fifth case with normal serum IgG level.