This rare syndrome is referred to as WHIM syndrome. It is caused by a genetic mutation in the immune system. The name describes the main clinical symptoms that most patients present with. This condition causes deficiencies in the infection-fighting antibodies in the blood as well as difficulty for the white blood cells when moving from the bone marrow into the bloodstream. These patients suffer from frequent bacterial and viral infections and persistent skin problems. They are also usually much more at risk for developing cancers related to the human papillomavirus.
The most common symptoms of this condition are described in the name:
Some patients experience very mild symptoms, while others suffer from life-threatening complications of this condition. The symptoms usually appear in early childhood, and children with WHIM might suffer from repeated Impetigo, Otitis Media, or even things like painful cavities or joint infections on a recurring basis. Secondary health conditions are common in these patients as well, causing difficulty in diagnosis.
This condition is caused by a gene mutation on the CXC chemokine receptor 4. This is a gene that tethers the white blood cells to the bone marrow until they are ready to be released into the bloodstream. Mutations of the kind that are present in this condition cause these white blood cells to be trapped in the bone marrow, which means that the patient’s immune system is severely depressed. Without proper white blood cell support, the body cannot fight off many common infections.
The exact prevalence and risk factors for this condition are still being studied. There are not enough cases of this condition worldwide each year to provide definitive studies. Males and females are affected equally.
Autoimmune Lymphoproliferative Syndrome (ALPS)
Caspase Eight Deficiency State (CEDS)
CARD9 Deficiency And Other Syndromes Of Susceptibility To Candidiasis
Chronic Granulomatous Disease (CGD)
Common Variable Immunodeficiency (CVID)
Congenital Neutropenia Syndromes
Hyper-Immunoglobulin E Syndromes
Hyper-Immunoglobulin M Syndromes
Interferon Gamma, Interleukin 12 And Interleukin 23 Deficiencies
Leukocyte Adhesion Deficiency (LAD)
PLCG2-Associated Antibody Deficiency And Immune Dysregulation (PLAID)
Severe Combined Immunodeficiency (SCID)
STAT3 Dominant Negative Disease (STAT3DN)
STAT3 Gain-Of-Function Disease (STAT3 GOF)
Wiskott-Aldrich Syndrome (WAS)
X-Linked Agammaglobulinemia (XLA)
X-Linked Lymphoproliferative Disease (XLP)
Immunodeficiency Disease Medications
Diagnosis of this condition depends on a thorough medical history and genetic testing for the gene mutation that causes it. A CBC blood panel will show incorrect levels of neutrophils in the blood and might also show low haemoglobin and platelet levels as well. Poor response to vaccines can be an indicator, and these early testing steps are often taken when this symptom shows up in young children.
Prevention of this condition is not possible. It is a genetic mutation and cannot be prevented from expressing itself in most cases if the patient was born with the genes to have the disease. Parents who have this condition could have genetic testing done prior to having children to see if they are at risk for having children with the disease.
Treatment can be complex in these patients. They often have many secondary health problems that might require emergency care over and over again throughout their lifetime. This can make it hard to keep up with their needs with regard to their underlying genetic condition.
Most patients will need a team of healthcare professionals to care for them. In most cases, a paediatrician, immunologist, haematologist, dermatologist, and many other healthcare professionals might be needed to help provide supportive care for these patients. Prompt diagnosis in young children can help to prevent some secondary health issues through the injection of granulocyte colony stimulating factors G-CSF and GM-CSF. Treatment can also be done through immunoglobulin therapy delivered intravenously.
Patients with WHIM are encouraged to get involved with clinical trials and studies which are needed to better understand this condition. The current prognosis for this disease is not favourable for most patients as they are at high risk for developing cancers of various kinds and severe secondary health issues that are hard to control.