Hypogammaglobulinemia may result from a variety of primary genetic immune system defects, such as common variable immunodeficiency,[1] or it may be caused by secondary effects such as medication, blood cancer, or poor nutrition, or loss of gamma globulins in urine, as in nonselective glomerular proteinuria.
[medical citation needed] Patients with hypogammaglobulinemia have reduced immune function; important considerations include avoiding use of live vaccines, and take precautionary measures when traveling to regions with endemic disease or poor sanitation such as receiving immunizations, taking antibiotics abroad, drinking only safe or boiled water, arranging appropriate medical cover in advance of travel, and ensuring continuation of any immunoglobulin infusions needed.
[medical citation needed] Babies with transient hypogammaglobulinemia (THI) usually become symptomatic 6 to 12 months after birth, with the symptoms usually consisting of frequent ear, sinus, and lung infections.
[medical citation needed] For example, a study from 2012 found that a compound heterozygous deleterious mutation in the CD21 gene is associated with hypogammaglobulinemia.
SCID is considered a medical emergency and suspected cases require immediate specialist center referral for diagnosis and treatment.
These include blood cancers such as chronic lymphocytic leukemia (CLL), lymphoma, or myeloma, HIV, nephrotic syndrome, poor nutrition, protein-losing enteropathy, getting an organ transplant, or radiation therapy.
[medical citation needed] Screening of immunoglobulin levels in relatives of CVID and IgA patients finds a familial inheritance rate of 10% to 20%.
It requires in vitro fertilization, embryo biopsy, and either fluorescent in situ hybridization or polymerase chain reaction on a singular cell, making it a complex procedure.
This entails measuring immunoglobulin levels in patients with hematologic malignancy, or those receiving chemotherapy or immunosuppressive therapy such as rituximab.
One method of treatment is by parenteral administration of gamma globulins, either monthly intravenously, subcutaneously, or more recently, by weekly self-administered hypodermoclysis.
[6] If hypogammaglobulinemia remains undetected and untreated, outcomes are generally poor, especially if chronic lung damage or bronchiectasis has occurred.
[2] In 2015, a journal article by McDermott et al. reported on a case in which chromothripsis, normally a catastrophic event in which chromosomes undergo massive deletion and rearrangement within a single stem cell's DNA, cured a patient with WHIM syndrome, a primary immunodeficiency disease.
The mutation in CXCR4 increases signaling because it disrupts negative regulatory elements usually present, creating exaggerated functions of the receptor.
Therefore, the evidence is compatible with a WHIM mutation occurring de novo in patient WHIM-09, an autosomal dominant transition to two of her three daughters, and a spontaneous and complete remission in WHIM-09.
Therefore, it is only detected if it acquires a strong selective advantage creating a clinically apparent clonal population harboring the same pattern of deletions and arrangements.