The three most common forms of Autoimmune Lymphoproliferative Syndrome (ALD) are X-linked, autosomal recessive, and autosomal dominant.
X-Linked ALD is caused by mutations in the SH2D1A gene, located on the X chromosome. This form of ALD is the most common and is found in both males and females, although it is more severe in males. Symptoms generally include enlarged lymph nodes, enlarged spleen, and anemia. Treatment usually involves chemotherapy, immunosuppressive drugs, and bone marrow transplantation.
Autosomal Recessive ALD is caused by mutations in the PRKCD gene and is the least common form of ALD. This form of ALD is only found in males and symptoms include enlarged lymph nodes, enlarged spleen, and anemia. Treatment typically involves chemotherapy, immunosuppressive drugs, and bone marrow transplantation.
Autosomal Dominant ALD is caused by mutations in the CD40 gene and is the second most common form of ALD. This form of ALD is found in both males and females and symptoms include enlarged lymph nodes, enlarged spleen, and anemia. Treatment typically involves chemotherapy, immunosuppressive drugs, and bone marrow transplantation.
In all three forms of ALD, timely diagnosis and treatment is essential in order to prevent further progression of the disease and potential complications.