Primary immunodeficiency disorders 

This is an overview of primary immunodeficiency disorders.
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ADDITIONAL TAGS:
Selective IgA deficiency Hyper IgM syndrome X-linked Bruton’s agammaglobulinemia Common variable immunodeficiency C1 esterase inhibitor 22q112 deletion / DiGeorge Severe combined Wiskott-Aldrich Ataxia-telangiectasia Chronic granulomatous disease Leukocyte adhesion Chédiak-Higashi IgE Job Terminal complement C5-C9 Primary disorders B-cell humoral immunity deficiencies T-cell cellular lymphocyte and cellular phagocytosis Most common primary antibody Dx ↓ levels everything else normal normal IgG IgM B cells Related to CVID → similar arrest of cell differentiation Recurrent mouth airway respiratory infxns GI Giardia treat with abx Recall - mucus membranes still works so most patients are healthy asymptomatic undiagnosed benign Rarely presents severe rapid seconds minutes anaphylactic reaction following transfusion blood or IVIG Pathophys Anti-IgA antibodies against the new foreign Stop transfusion Give IM epi +/- bronchodilators antihistamines pressors mechanical ventilation If necessary give IgA-depleted Antibody class switching differentiation doesn’t work Cause absence CD40 ligand ↑ IgA nl cells Minimal nonselective defense Increased susceptibility recurrent sinopulmonary infxns Viruses encapsulated bacteria Treatment scheduled XLA recessive males only BTK gene mutation defective Bruton tyrosine kinase impaired maturation Ig production Signs/symptoms sinopulm Deficiency in opsonizing IgG otitis sinusitis pneumonia encapsulated Pseudomonas S pneumo Haemophilus Symptoms begin at 3-6 months transplacental maternal fades Small lymphoid tissue tonsils adenoids spleen lymph nodes enteroviral infxn Deficient response Diagnosis IgE Confirm flow cytometry B-cells low might say CD20+ low T-cells normal/high SCIG IVIG maybe prophylactic CVID abnormal plasma Decreased Presents adults children 15-35 yo as early puberty Males females resp lung sinus ear salmonella Campylobacter Giardia presentation lungs bronchiectasis fibrosis IBD-esque chronic diarrhea Less form XLA Need least two No vaccinations Upper lower Normal number B-cells but aka thymic aplasia velocardiofacial syndrome autosomal dominant CATCH-22 syndrome Cardiac defects tet fallot trunc art VSD Abnormal facial features micrognathia wide-spaced eyes low-set ears Thymic hypoplasia absent shadow T-cell deficiency Cleft palate craniofacial deformities Hypocalcemia hypoparathyroid seizures newborn tetany within chromosome 22q11 dev pharyngeal pouches Sx Infections viruses fungus Pneumocystis PCP PCP prophylaxis TMP/SMX bone marrow stem transplant Cure thymus SCID defect often adenosine deaminase failed development dysfunction Usually “bubble boy” no immune system starting 6 months Functionally AIDS Infections bacterial opportunistic PCP crypto candida toxo TB herpes chickenpox CMV PML diarrhea failure thrive Tx TMP/SMX English Wikipedia CC0 via Wikimedia Commons WAS protein Impaired cytoskeleton changes white cells platelets WIPE Infections thrombocytopenic Purpura Fig A Eczema B Bleeding hematoma A ear atopic diseases thrombocytopenia + splenectomy Low survival rates Cerebellar ataxia Incoordination stumbling falling slurred speech Oculocutaneous telangiectasia Recessive disease DNA repair predisp malignancy specific tx IVIG XLR NAPHD oxidase anion superoxides macrophages can ingest not kill catalase-positive organisms create granulomas instead respiratory GI UT skin infections granulomas ulcerations Catalase positive organisms Staph Aspergillus Burkholderia Nocardia Serratia Immune ↑ WBC can’t clear Measure neutrophil superoxide production Flow Dihydrorhodamine nitroblue tetrazolium test negative burst daily TMP/SMX antifungal itraconazole IFN-gamma CD18 integrin leukocyte chemotaxis Neutrophils adhere vessels exit impaired extravasation proliferates skin/mucosal skin GU pulm infections pus wounds high fever Newborns omphalitis inflammation umbilical stump delayed separation cord at 2-3 weeks old Lab WBC cytokines leukocytes high neutrophils Autosomal Lysosomes fuse together large granules neutrophils Peripheral neuropathy albinism skin eyes neutropenia for infections JAK-STAT signaling impairs Th17 proliferation FATED coarse Facies prominent forehead broad nose Abscesses cold noninflammatory containing S aureus Candida retained Teeth hyper-IgE Eosinophilia Derm severe eczema ↑↑ IgE eosinophilia Th17 otherwise membrane attack complex MAC which is required lysis Susceptible gram Neisseria meningococcal gonococcal antibiotics vaccines meningococcal Assembly MAC leads pores that disrupt target leading death hereditary angioedema AD deno excess bradykinin fluid accumulates mucosa trauma stress? ACEi NSAIDs Distinct from anaphylaxis no pruritus urticaria Not allergic mediated antihistamines don’t help GI abd pain n/v/d Resp laryngospasm obstruction increased risk but related