Version May 2024
| Humoral (antibody) deficiencies (IgG <400 mg/dL, severe <200 mg/dL)* | |
| Cause | Features |
| Prematurity | Severe infection in infants less than 1500 g |
| Maternal hypogammaglobulinemia | Mother has untreated hypogammaglobulinemia or on immunosuppression causing low B cells |
| Immunoglobulin loss | Surgery, blood drawing, diarrhea, exudative skin lesions |
| Cellular (T cell) immunodeficiencies (CD3 T cells <500 cells/microL, severe <200 cells/microL) | |
| Cause | Features |
| Severe combined immunodeficiencies | Thrush, diarrhea, failure to thrive, Pneumocystis jirovecii pneumonia |
| Combined immunodeficiencies | Severe infection, IgG low after several months |
| DiGeorge syndrome | Outflow cardiac defects, typical facies, hypocalcemia, absent thymic shadow |
| Wiskott-Aldrich syndrome | Boys with thrombocytopenia, bleeding, eczema, respiratory infections |
| Mucocutaneous candidiasis | Early onset of thrush, esophagitis, skin infections, endocrinopathies |
| Neutropenia (granulocytes <500 cells/microL, severe <200 cells/L) | |
| Cause | Features |
| Neutropenia due to maternal hypertension mild | Asymptomatic |
| Drug-induced neutropenia | Various drugs, usually reversible, asymptomatic |
| Benign neutropenia | Moderate, asymptomatic, normalizes with infection |
| Severe congenital neutropenia | Early onset of refractory infection |
| Cyclic neutropenia | Moderate or severe infections, often asymptomatic |
| Autoimmune or isoimmune neutropenia | Maternal neutropenia, neutrophil antibodies, familial |
| Neutropenia of infection | Develops during severe infection of the newborn, poor prognostic sign |
| Other phagocytic immunodeficiencies (T and B cell function normal, no neutropenia) | |
| Cause | Features |
| Chronic granulomatous disease | Deep-seated infections, abscesses, pneumonia, moderate leukocytosis |
| Leukocyte adhesion deficiency | Marked leukocytosis, poor wound healing, delayed umbilical cord separation (>30 days) |
| Immunoregulatory disorders | |
| Cause | Features |
| Mendelian susceptibility to mycobacterial diseases | Chronic Bacillus Calmette-Guérin (BCG) infection, environmental nontuberculous mycobacteria |
| Hemophagocytic lymphohistiocytosis (HLH) | Fever, vomiting, hepatosplenomegaly, seizures, liver failure |
| Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome | Boys with enteropathy/colitis, diabetes, dermatitis |
| Innate immune defects | |
| Cause | Features |
| NF-kappa-B essential modulator (NEMO) defects | Severe infections, sparse hair |
| Toll-like receptor (TLR) defects | Severe bacterial infections (especially Staphylococcus and pneumococcus) with little or no fever or elevation of inflammatory markers |
| Congenital asplenia | Overwhelming sepsis, other abnormalities |
| Natural killer cell deficiencies | Severe herpes infections |
| Complement deficiencies | |
| Cause | Features |
| Prematurity with opsonic defects | Neonatal sepsis in infants <1500 g |
| Regulatory protein deficiencies | Hemolytic uremic syndrome, kidney failure, thrombocytopenia |
IgG: immunoglobulin G; IgM: immunoglobulin M.
* Physiologic hypogammaglobulinemia of infancy and congenital hypogammaglobulinemias typically do not present until after 3 months of age, due to the presence of transplacental maternal IgG in the infant.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
