Primary Immunodeficiencies: Types, Symptoms, and Treatments
Why Have You Reached the Conclusion That This Is Primary?
- 2+ Pneumonia / year
- 4+ Otitis / year
- Severe Infection (meningitis & septicemia)
- Family History
- Interstitial Infection
Group the Primary Immunodeficiencies
| B Cell Deficiency | T Cell Deficiency | Combined Deficiency | Phagocytic Cell Deficiency |
1. X-Linked Agammaglobulinemia (No Antibody, B cell 0 / T Cell [Normal]) (Pneumonia / Bronchiectasis)
2. Hyper IgMIgM ↑, IgA + IgG ↓ (Fungi Pneumocystis jirovecii, protozoa, Virus CMV)
3. IgA DeficiencyIgA ↓, all Immunoglobulins [Normal] (Sinus/Pulmonary Infection, allergy, Celiac) – G2 + G4
4. Common Variable Immunodeficiency (CVID)(B cell Normal, IgM and IgA [Normal], IgG’s ↓) (Pyogenic Giardia lamblia) (Pharyngitis, sinusitis, Otitis Media) |
1. DiGeorge (Tetany at birth) (Opportunistic infection) (Facial Feature)
2. Nezelof
3. X-linked Proliferative
4. Chronic Mucocutaneous Candidiasis |
1. Severe Combined Immunodeficiency (SCID)
2. Ataxia-Telangiectasia (A-T)
3. Wiskott-Aldrich (W-A)(Thrombocytopenia, Eczema, Pyogenic) | 1. Chronic Granulomatous Disease (CGD) 2. Chediak-Higashi (CH) 3. Hyper IgE |
X-Linked Agammaglobulinemia
| Main Symptoms | Diagnosis | Treatment |
| Immunoglobulins: 0 B Cell Low T cell Normal | IVIG (400mg/Kg) Antibiotics Annual Pulmonary Function Test (PFT) |
Hyper IgM Syndrome
| Main Symptoms | Diagnosis | Treatment |
| IgM is High All Immunoglobulins are Low Flow cytometry CD40 mutation | Bone marrow transplant IVIG Antibiotics (Pneumocystis jirovecii) |
Selective IgA Deficiency
| Main Symptoms | Diagnosis | Treatment |
Sinopulmonary Infection, Allergies, Celiac Disease Asymptomatic | Infection history IgA < 10, Other Immunoglobulins Are Normal | NO IVIG Broad spectrum Antibiotics |
DiGeorge Syndrome
| Main Symptoms | Diagnosis | Treatment |
22q11.2 Deletion Thymus & Parathyroid Gland Hypoplasia (T cell & Ca2+ ↓) Recurrent Infections Facial Abnormalities Cardiac Abnormalities Tetany at birth | CBC: Neutropenia Genetic Test Cytometry B cell (maybe But Not IgG) | Transplant Of Thymus Ca & Vitamin D Supplement |
Nezelof Syndrome
| Main Symptoms | Diagnosis | Treatment |
Thymus hypoplasia Parathyroid Gland Normal | IVIG + Thymus Transplant |
X-Linked Lymphoproliferative Syndrome
| Symptoms | Diagnosis | Treatment |
Asymptomatic until Epstein-Barr Virus (EBV) (Mononucleosis + Liver Failure) | EBV History Immunoglobulins ↓ Natural Killer (NK) cells ↓ CD4/CD8 reversed | Bone Marrow Transplant |
Chronic Mucocutaneous Candidiasis
| Symptoms | Diagnosis | Treatment |
T cell Dysfunction, Recurrent Candida Infection of Skin & Mucous membrane | Recurrent Candida Thrush Scalp Skin | Systemic > topical antifungal |
Severe Combined Immunodeficiency (SCID)
| Symptoms | Diagnosis | Treatment |
>6 Months Infection immediately post birth Candida Viral Infection Exfoliative Dermatitis | History of Infection CBC: Lymphopenia Mitogen response Test (-) Flow cytometry: T cell Decreased Defect in IL-2, IL-3, IL-4 | Bone Marrow transplant Gene therapy IVIG Antibiotics |
Ataxia-Telangiectasia (A-T)
| Main Symptoms | Diagnosis | Treatment |
Wobbly Gait at 18 months Ataxia when able to walk Telangiectasias: 4-6 Years old Sinopulmonary infection | Ataxia IgA very low Alpha-1 fetoprotein elevated Cytometry ATM gene Defect Chromosome 11 | IVIG Antibiotics Ataxia Management Thymus Graft |
Wiskott-Aldrich Syndrome
| Main Symptoms | Diagnosis | Treatment |
Combined Immunodeficiency Thrombocytopenia Eczema Low IgM [Normal] IgG High IgA + IgE | CBC: Thrombocytopenia Ig: IgM low, IgA + IgE High ESR up Mitogen Test Low Flow cytometry (T cell low, B Normal) | Bone Marrow Transplant IVIG Supportive but not NSAIDs |
Chronic Granulomatous Disease (CGD)
| Main Symptoms | Diagnosis | Treatment |
Granulomas Pneumonia Lymphadenitis Abscess (Staphylococcus epidermis) Skin Infection, Mucous infection Granulomatous Lesion, In Lung and Liver Lymph Node inflammation Auspicious ulcer | Nitroblue tetrazolium test is (-) CBC (leukocytosis + Microcytic anemia) Flow cytometry | Prophylactic Antibiotics (TMP-SMX-itraconazole) Hematopoietic Stem Cell Transplant |
Chediak-Higashi Syndrome
| Main Symptoms | Diagnosis | Treatment |
Albinism Peripheral Neuropathy | CBC: neutropenia Smear: Giant Cell Bone Marrow biopsy: Giant inclusion | Bone Marrow Transplant Granulocyte Colony-Stimulating Factor (G-CSF) for neutropenia Antibiotics |
Hyper IgE Syndrome
| Main Symptoms | Diagnosis | Treatment |
Recurrent Staphylococcus Cutaneous Sinopulmonary infection Boils Cyst Forming Pneumonia Staphylococcus INFECTION | History of Staphylococcus infection IgE High >1000 Genetic Test | Lifelong anti-Staphylococcus |
Allergy
General Examination
- Hypersensitivity type I (HSI)
- IgE
- Atopy
- History is a must
Diagnosis
- History (must)
- Family
- Clinical Findings: runny nose, Itchy eyes
- Skin Tests (drop / Patch)
- Laboratory: IgE, Autoantibodies, Inflammatory Cells (eosinophils)
- Provocation test (Coombs Test)
Skin Prick Test
(+)
^^Tx:
***Anaphylacitc shock:
| ^^Gx: | ^^SYSTEM AFFECTED: | ^^Criteria: | ^^Sx: |
Severe Form of Alelrgy -15-30 min to Death -x System Affected | -Cuteanous Features ( utricaria & Angioedema flushing) -URT ( Wheezing , dyapnea, Upper Airway edem, Rhinities) -LRT -GI (Vommiting Crmping ,diahrea) | C1: Acute Cutenous sx( Uticari& Angioedema) & Respiratory sx or -Cardio sx(↓) C2:Acute onset of 2 System ( cutenous /resp/ CVS/ GI )d C3:Acute Hypotension following Exposure to Known Allergen | -Utricaria -Angioedema -Dyspnea -Upper airway edema -nausea Vommiting , -Dizziness -Tachycardia -Hypotension (v low) —-> anaphylactic Shock -SKIN : utricaria(Wheels Raised Circular)/ angioedema/ FLUSHING -HIVES, Itching , Swollen Tongue . Wheezing , Tacycardia |
| ^^Dx: | ^^Tx: |
I-CF :-Itching (We dont have time ) II- Lab: CBC (tryptasE) | I-Emergency1-ABC Airway Breathing Circuliton 2-Epinephrine(IM) to cause —>Vevery 10 -15 min till we get a response! 3-Fluid ResuscitationII-Post emergency:-Antihitamines( Diphenhydramine )-CSD ( Prednisone) |
MHC I: All Cell (except RBC)————-> Bind To CD8+MHC II: APC ( MAcriphage, dendrite ,B lymphcote)———–> Bind To CD4+ helper
| Direct Rejection | Infirect Rejection |
-APC is in graft -CD8+ attack MHC I -Kill cell -thrombosis & Ischemia | CD4—->MHC II (+) Macrophage& B lymh to procude Abb |
| 1-hyperacute:: | 2- Acute: | 3- Chronic: |
-Ab Attack Donor Organ (preformed Ab) -Attack on Vessel, thombosis -HSII | -Humoral Ab+ Acute( ab) macrophage, NK) -6-90 days -Tx :immuno(-) | Month to years -Ab /Cm/ HS IV -Fibrosis in endothelium leadign to necrosis! |
4- Host Vs Graft:Organs attack the host -Due toT-cell proliferation inside the organ** Angioedema:(utricaria GOES Wild)^^Gx:
| Allergic (as byproduct of Allergic /anaphylactic reaction )= HS1 | Hereditary |
-Fast Sx: -ITching -Utricaria | -Slow -Cause C1 esterase Def -GCD do not Work Sx: -Facial Swlling & Stridor -No Itching -No Raised lesion |
^^Dx:
^^Tx:
***UTRCARIA:^^Gx:
^^Cause:
^^ CF:
^^Dx:
^^Tx:
^^ Relationship of angioedem & urticaria?
*** Pulmonary Abscess!
| ^^Gx: | ^^ Cause: | ^^Sx: | ^^Dx: |
| -Necrotizing Lung Infection with Pus | Infection : Pneumonia-ASpiration : Vommt , Gignivitis, Poor Oral Hygeine( Lung Are Sterile)-OBstruction & Abnormalities! | Fever, High-Productive Cough-Dyspnea | -XRAY-Bronchoscopy!-Sputum Culture |
^^Tx:-Ax Treatment -PERCUTEANOUS PUNCUTRE& CATHERIZATION of Peripheral Lung abscess ( MONALDI method)***Empyema:^^Gx:-Fluid Build Up btwn Lung Surface & Fluid Membrane!-Px : is Pilled up of pus , Unlike Pleural effusion is not Normal Fluid!(Pus :Dead WBC) Lung cannto expand properly -Cause :Infection (Pn) ./ Asbestos/ Chest WoundPRIMARY: Direct Infection of pleural space due to TraumaSECONDARY : Infection of adjacent organs to pleural surface^^Sx:-Short Breath -Chest pain-Fever(High)-Chills-Cough , -Green Brown Sputum^^Dx: -XRay-Thoracentesis!^^Tx:-Thoracentis —> Aspiration to remove Pus -Ax are Given -Surgery : pariteal Pleuroctomy & Decortication !(Cutting and pealign some of Lung Lining)
More on Surgery :1-Irrigation & Drainage—->Acute & Chronic non complicated Empyema2- Decortication & Pleurectomy:——>Chronic Pleural emyemaDecortication —-> remocal of constriction pell of LungPleurectomy—-> excision of thickened Parietal Pleura!3- Pleurostoma:
***Plueral Effusion:
^^Sx:
^^Dx:
^^Tx
***Pulmonary asphyxia:
**Pulmonary contusion :
** PnThorax :^^Gx:-” Air in Pleural Cavity ”-Cause: Trauma , Spontenous . Many reasons….-[N] :Pleural Cavity :-5 cm H2O pressure Pressure this Keep the Lung is this Equilibriumoutward Pull-Lung will Compress -Normal PnThorax : Shunt /Chest Compresses air goes in , Chest Expands air Goes Out! Blood will be there without any gas exchange-Tension Pn Thorax : Valves Like Opening due to a Breathing Machine Sudden Severe Hypotension & Dyspnea Decrease BReath Sound , Hyperresonance!-Primary Spontaneous Pn : No underlying Lung Disease Smoking/ flying-Secondary Spontanous Pnthorax: With Lung Disease( Azma COPD , cystic Fibrosis)-Traumatic Pn thorax: Chest Injury -Iatrogenic :Due ot medical Intervention , MEchinical ventilation
Low BP , Dyspnea, Falling O2 Saturation,Distended ,Bradycardia Jugulanr Vein Pleureal in Plerua Goes Up puting PRessure on your hear—> Decreased Output!!!^^Sx:dyspneapleuritic chest Pain-Decrease Breath sound-Hypersonancy on perucssion^^Dx:-CF: Pain , Pleuritic Chest Pain ,-Decrease Breath Sound , Hyperresoanance -Xray : (Except Tension)
1-Overexpanded Ribcage ,2-vascular Marking abscent /Visceral Pleura Will be pushed in (medially)3- Trachea is Shifted to opposite Side4-Mediastinal Shift^^Tx:-Immediate Needle Decomrpession——>Tension Pn Thorax(Emergency do not even do Xray)-Catheter Aspiration ———->Asx Primary Pn Thorax-Tube thoracsotomy———–>2nd and Traumatic Pnthorax!**Hemothorax:-Cause Blunt /Penetrating Trauma to Chest-Dx: Respiratory Distess/ Shock (low BP)/ Reduced Breath Sound/HR up XRAY -Tx: Drainage+ Remove the source of Bleeding**Flail Chest:-Cause: blunt Trauma , multiple broken Ribs-Dx: Paradoxical motion of Chest -Tx : +ve Pressure Ventilation** Hemopericardium (Bleeding in heart)Cause:Penetrating Trauma to ChestDx: Loss of Blood ,Rising Heart Beat , Tx:Release Blood & Repair Whole!***Chest Trauma:^^Sx: -Hypoxia-Shock!(Many Reasons)-Patient Pain level Very HighTypes Of Trauma:I-Penetrating Injury :-PArtietal Pleura Intrathroacic Viscera-Superficial Wound(Gunshot /Stab) ———–>Can Result in LUNG: Ptnthorax/ HemoThorax (DO XRAY) HEART : bleeding injury (Exhocardogram) AORTA: Holes( CT) Trachea: ( Broncoscopy) II- Blunt Trauma:-Fractures of Bones-Non complicated: Chest bone fracture/ Hematoma
—> Can Result in RIBS :FLIAL CHEST /FRACTURE /PnThoax LUNG : Pnthorax/ Pulmonary contusion
AORTA Injury DiseaseASthma:Acute BronchitisPnGx-Airway inflammation harder to breath through-Trigger from person to personTiggers:-Pollution /cigarette, Dust, Mold ,ASpirin , Beta Blockers-Inflammatory or Upper airway which can progress to lower-Viral > BacterialTigger:I- Infectious :Viral > BacterialII-SmokingNO HISTORY / NO Effective of Bronchidialors!-Infection in Lung Tissue—->inflmmation —-> Fluid in Lung tissue making it Hard to Breath-BActeria are in Alveoli-Causes: Viruses, Bacteria, FungiAdult :Influenza, Strep Pn,S aureusPx-Immune cell Form inflammationIL4 (Produce IGE)—>+ MAST Cell to release histamine&IL5——>+ Esonophil—->more cytokines release=increase spams + Mucous Secretion!-Asthma is Similar but ussually Has History of thoseEpisodes!-In ASthma there is response to B agonistCAP HAP VAP :48-72 hours of intubation !BronchoPn : Throughout the Lung , broncjioles& AlveoliAtypical : infection just outside alveoliLobar Pn : Consolidation , Whole Lobe!!Dx-History of Asthma attacks-Sx: Dyspnea / Wheezing / Prolonged expiration-Test SPutum: Curshmenas spirals^^CF-Cold like Sx( CoughMOST IMP)Min 5 day!!-Non productive—> productive(With time), Colored-Mild Fever-Ausculation : Normal ,Crackle , Wheezing-Emesis-Sx : Dyspnea , tachypnea-Xray : Pleural Effusion-Dullness to PErcussion-Tactile Vocal FremitusTx-Avoid Triggers-X : Bronchodialators (b agonsit+ Anti cholinergics) CSD Histamine(-)-Self Limiting -Sx (Paracetamol & hydration) -Anti ocugh drug if cough is at night!Tx:-Depend on Type & Severity1- Ax most common2-Pain medicationI-OutPatient:CAP :MaC/Fluoro .MACazithromycin/clarithromuysinFluor: Mexo/ievo flaxacin !II-Inpatient:Ceftiaxon+(Mac or Fluoro)III-ICU:B lactam+ Macrolide+(Blac+Fluoqo)HAP :antipesudeomal and anti-MRSA
PECor PulmonaleCOPD-Blockage of PA this could depend on what PA is affected-decrease in Blood Downstread-Right Ventricular Hypertrophy(Failure) Partially reverisble Airway OBsturction 2 Types:1- Chronic Bronchitis : 3 M ,2 Y of Cough2-Emphysema: Destruction of Lung parencyma Loss of elastic Recoil and Alveolar septa-Eolbi ussually Comes from Thrombi in the Lower Limbs -then dislodges and blocks in the PA -Size determines the Sx1- Destuction of Capilllary Bed2- Alevolar Pressure Up3- Hypertrophy of arterioles4-Vasoconstirciton due ot Hypoxia & HypercapniaMean Arterial PRessure>25 mm/hgCauses:Left Heart problemChronic Lung disease1- Inflammation : due to inhlated toxin (Soke)2- Infection : Due to bacteria3- Airway limitation :Obstruction /Loss of Recoild or both —>Hyperinflattion1-Sx:-Small nothing-Large: Chest Pain , Shortness of Breath ,Fatigue2-CT angioram3-V/Q Scan : Shows areas that are ventilated by Not Perfused4- elevated D -Dimer-ECG : increase Pressure in Pulmonary arteries-Spirometery To find lung disease1- History of smoking2-Spirometry: FEV , FVC , Ratio All Down3- Xray : emphysmea: hyperinflation increase in peristernal space4-VC down5- alpha 1 antitrypsin level1-Thrombolytic Drugs2-Pulmonary Thrombectory3- anticoagulantes ((Start Heparin then Wardarin)4- IVC Filter -O2-X to improve heart function ( if Cardiogenic Problem)-X :Anti hypertensive -Stop Smoking-O2 therapy-X: Bronchidilator , CSD-Surgery :Reduce Volume and transplant
Bronchiactasis (Purulent)Lung Abscess(Purulent)Cytic Fibrosis(obsturctive)^^Gx:– (+)-Enlarged Airway-50% with Cystic fibrosis-Irreversible Dialaiton of LARGE airways!^^Gx:Necrotizing Lung infectionPus filled cavity( Aureus)^^Px:-Aspiration(vommit)-Gignitivis-Poor Oral Hygiene1:O2(-)2::Saureus^^Gx:-Autosomal Receesive(Both Parents)-Genetic Disorder(CFTR gene mutation)-Organs Affected : LUNG & Pancrease^^Px: =CFTR Prt Pumps Cl Ion-CFTR Mutation -This Mutation blocks CL channel-not Alllowing Water To Pass Through Make Mucous Thicker-making Mucous thicker,!Pancrease:-Cysts and Pancreatic Insuff-Due to Obstruction of the duct can lead to pancreatitisSx:-abnormal secretion Clearance-yellow ,Green sputum-Bad Breath-Hemptysis!!criteria: Chronic cough+SPutum production /CT(+)
Px:Chronic infl (-) mucous clearance^^Dx:-CF(Fever/Cough+Sputum/Chest Pain)-Dullness-Crackles-Xray consolidation^^Sx:Start in childhood from pacrease—->Lung-Cough & Fever-leads to bronchiactasisPancrease:-Fat in Stools-Pancreatic insuff—>peancreatitis-Clubbing-Nasal Polyp growth-Allerigc bronchopulmonary aspageiolosis^^Dx:-Newborn Screening-Swear Test–> High Cl-Check pncreastic Enzyme-Check 72 hour Fat in Stools^^Dx:-CF-XRAY(Tree bud/Dialated BronchiThickineng BonchiWall)GOAL Control infection control inflamamtion Bronchial hygeine Tx:-Control Infection (Ax)(amoxillin TMP,2n G cepalospon)-Surgery of affected part-Drainge^^Tx:1: Clindamcin/ Blactam+Lactamase(IV—>OP when fever falls)2: Ax Targery therapy-Surgeryif >6cm/Epiraical Tx Fail/ Emphysema^^Tx:-Nutriotion + Kg Gain+Ancrase enzyme replacement2-Chest physiotherpay(Push Mucous Out) 3-Inhaler4- X:N a^^ Atelactassis:incompelete expansion of Lung(lobar or segmental)——–>Hypoventilated areas—–>decrease Gas Exchange due to loss of lung volumeOBsturctuve Type: —–>Complete obstruction of Airway, Obs at any anatomical level (Forigen body mucous plugging Tumour latrogenic) Distal part of Lugn collapses and mediastinum shift towards that AreaCompressive Type——–> Pleural cavity is Filled with component : Air , blood Tumour In this case mediastinum shift awayCircational——->destction ofl ung parenchyma by fibosis No shfit in mediastinumAdhesive———–>Surfactant dfiency!
^^ class:SCLC (smoker/agressive/Rapid growth)NSCLC ( Large , quamous adenocarcinoma)^^Sx:dyspnea/hemopssys/↓ KG^^Dx:XRay #1 (>1cm Malignant/ Bening)CF CBC : cytopeniaBiopsyFEV1>2L (operation)FEV 1.5(-) ( Non)^^Tx:Cetral vs Peipheral Center( SCLC+Squamous)Peipheral( Adeno+LArge)