Disease Information for Agammaglobulinemia, congenital/autosomal

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Clinical Manifestations
Signs & Symptoms
Acute Diarrhea
Acute Diarrhea in Children
Anorexia in Infant
Chronic Diarrhea in a Child
Diarrhea
Diarrhea and Weight Loss
Diarrhea in Children
Diarrhea, chronic
Diarrhea, recurrent
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Recurrent chest infections/bronchitis/sign
Short stature
Short stature Child
Clinical Presentation & Variations
Presentation/Recurrent pneumonia Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/Six months
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Immune defects
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Male
Laboratory Tests
Microbiology & Serology Findings
Common vaccination antibodies absent/low
Abnormal Lab Findings (Non Measured)
Cytogenetics Abnormal
Absent/Low B-cells on Flow Cytometry
Flow cytometry tests/abnormal (Lab)
Abnormal Lab Findings - Decreased
Gamma globulin (Lab)
Globulin, serum (Lab)
IGA/Immunoglobulin A (Lab)
IGD/Immunoglobulin D (Lab)
IGE/Immunoglobulin E (Lab)
IGG/Immunoglobulin G (Lab)
IGM/Immunoglobulin M (Lab)
Lymphocytes (Lab)
Abnormal Lab Findings - Increased
Acute lymphopenia/transient
Albumin/globulin ratio (Lab)
Free hemoglobin, plasma (Lab)
Diagnostic Test Results
X-RAY With contrast
SBS/Mucosal folds thickened, intestinal (Xray)
SBS/Valvulae conniventes thickened (Xray)
Associated Diseases & Rule outs
Rule Outs
Cystic fibrosis (mucoviscidosis)
Associated Disease & Complications
Agammaglobulinemia
Asthma
Bronchiectasis
Hypogammaglobulinemia
Immunodeficiency
Infections
Lymphocytopenia
Megaloblastic anemia/disease
Pneumonia, pneumococcal
Pneumonia, recurrent
Pneumonia/Bronchopneumonia
Staphylococcus aureus infection
Asthma Children
Disease Mechanism & Classification
Class
CLASS/Humoral Immune System Disorder (ex)
CLASS/Immune System Disorder (ex)
CLASS/Pediatric disorders (ex)
CLASS/Spleen/thymus/RES/immune system (category)
Pathophysiology
Pathophysiology/Btk gene (Bruton Tyrosine kinase)
Pathophysiology/Gene locus 14q32
Pathophysiology/Gene locus 14q32.33
Pathophysiology/Gene locus 9q34.13
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Infection resistant to usual treatments
Pathophysiology/Proteins/blood disorder (ex)
Pathophysiology/Immune physiology/defective
Pathophysiology/Poor immune resp/encapsulated bacteria
Pathophysiology/Poor slow recovery/ bacteria infection
Process
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Immune system disorder (ex)
PROCESS/Immunodeficiency disorder/Primary
Treatment
Drug Therapy - Indication
RX/Gamma globulin/prophylaxis/low dose
Definition

Primary Agammaglobulinemias are a group of inherited immune deficiencies characterized by insufficient antibodies; Antibodies are composed of certain proteins (immunoglobulins) that are essential to the immune system. They are produced by specialized cells (ie, B lymphocytes) that circulate in the lymphatic fluid and blood; Antibodies fight off bacteria, viruses, and other foreign substances that threaten the body; Agammaglobulinemias are also characterized by the abnormal function of specialized white blood cells called B lymphocytes; The B lymphocytes are supposed to search out and identify bacteria, viruses, or other foreign substances in the body; T lymphocytes, also known as the "killer cells," assist B lymphocytes to respond to infection and other antigens; However, in some forms of Primary Agammaglobulinemias, neither the B nor the T lymphocytes function normally; There are three types of Primary Agammaglobulinemias: X-linked Agammaglobulinemia (XLA), X-linked Agammaglobulinemia with growth hormone deficiency, and autosomal recessive Agammaglobulinemia; All of these disorders are characterized by a weakened immune system treated with gamma globulin injections---------

[NORD 2005]--------------------------

Males with X-linked agammaglobulinemia are usually well until 6 to 9 months of age, the time by which maternal antibodies acquired in utero have been largely catabolized; These patients typically suffer from recurrent respiratory tract, joint, central nervous system, and systemic infections with encapsulated pyogenic bacteria; The spectrum of infections is broad, including pneumonia, sinusitis, otitis, meningitis, and sepsis; The most common bacterial isolates include Streptococcus pneumoniae, Haemophilus influenzae, and Streptococcus sp; Patients are particularly susceptible to viral hepatitis, and a number of patients have developed paralysis after exposure to live attenuated polio vaccine; A significant number of X-linked agammaglobulinemia patients have also died as the result of chronic echovirus infections of the central nervous system; This disorder is typically accompanied by a dermatomyositis-like syndrome; A small percentage of patients with X-linked agammaglobulinemia develop neutropenia, which may be transient, cyclic, or persistent; Pneumocystis carinii pneumonia has been reported in neutropenic agammaglobulinemic patients

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External Links Related to Agammaglobulinemia, congenital/autosomal
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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