Selective IgA deficiency Common variable immunodeficiency (CVID) Specific antibody deficiency Antibody deficiencies Antibody deficiencies
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1 Warning signs of Primary Immunodeficiency for specialty care physicians The clinical presentation of PID can be diverse. However, there are clinical findings at the level of different organs and systems requiring PID suspicion; these findings must be quickly recognized by specialty care physicians: ALLERGY: Difficult-to-control asthma Recurrent or complicated sinusitis Recurrent or complicated otitis Eczema Recurrent angioedema Severe food and/or drug allergies Selective IgA deficiency Specific antibody deficiency Hyper-IgE syndrome IPEX ((immunodysregulation, polyendocrinopathy, enteropathy, X- Netherton syndrome (ichthyosiform erythroderma, ichthyosis linearis, bamboo hair) Hereditary angioedema (C1inh deficiency) DOCK8 defect (hyper-ige syndrome) CARDIOLOGY: Congenital heart disease (interrupted aortic arch, pulmonary atresia, aberrant subclavian, tetralogy of Fallot) Congenital heart defects THORACIC SURGERY: Thymoma and hypogammaglobulinemia Congenital heart disease (interrupted aortic arch, pulmonary atresia, aberrant subclavian, tetralogy of Fallot) Congenital heart defects Good syndrome DERMATOLOGY: Eczema or erythroderma Hyper-IgE syndrome
2 Partial albinism Warts (human papilloma virus recurrent infections) Molluscum contagiosum recurrent or generalized infections Ectodermal dysplasia (scanty hair, thin skin, hypohidrosis, defective tooth formation, abnormal nails) Severe periodontal disease Retained primary dentition Sparse hair, short-limbed dwarfism, infections Recurrent angioedema Disseminated fusariosis Chronic mucocutaneous candidiasis Café-au-lait spots Sun-sensitive telangiectatic erythema Invasive dermatophytosis Ectodermal dystrophy Lipodystrophy Ecthyma gangrenosum Netherton syndrome (ichthyosiform erythroderma, ichthyosis linearis, bamboo hair) Immunodeficiencies with immune dysregulation and hypopigmentation (Griscelli syndrome, Chediak-Higashi syndrome, Hermansky-Pudlak syndrome) WHIM syndrome (warts, hypogammaglobulinemia, infections, myelokathexis) Epidermodysplasia verruciformis DOCK8 deficiency (hyper-ige syndrome) IRF8 deficiency DOCK8 deficiency (hyper-ige syndrome) IRF8 deficiency SPINK deficiency (Netherton syndrome) NEMO deficiency (ectodermal dysplasia with immunodeficiency) IκBa deficiency (ectodermal dysplasia with immunodeficiency) Neutropenia Leukocyte adhesion defects (LAD) STAT3 deficiency (hyper-ige syndrome) Cartilage-hair hypoplasia Hereditary angioedema (C1 inh deficiency) STAT1 gain-of-function mutations STAT1 gain-of-function mutations CARD9 deficiency IL-17F deficiency IL17RA deficiency APECED (autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy) Phagocyte defects PMS2 deficiency Bloom syndrome CARD9 deficiency APECED (autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy) PSMB8 deficiency (autoinflammatory syndrome) Agammaglobulinemia ENDOCRINOLOGY: Neonatal diabetes
3 Neonatal tetany or seizures Hypothyroidism, adrenal insufficiency, hypoparathyroidism Short stature Gonadal dysgenesis Calcium channels defects (ORAI1, STIM1) APECED (autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy) Cartilage-hair hypoplasia STAT5b deficiency APECED (autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy) Ataxia telangiectasia GASTROENTEROLOGY: Chronic diarrhea CD25 deficiency CGD IL10R deficiency Trichohepatoenteric syndrome Difficult-to-treat giardiasis, including selective IgA deficiency, CVID, XLA Autoimmune colitis IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X- linked) CD25 deficiency XLP type 2 (XIAP deficiency) IL-10R deficiency NEMO Esophageal candidiasis Phagocyte defects Chronic mucocutaneous candidiasis (CMC) and associated defects (APECED, IL-17F, IL-17RA, CARD9, STAT1) Hepatic abscess Recurrent abdominal pain attacks Hereditary angioedema (C1 inh deficiency) (simulates acute abdomen) Celiac disease Selective IgA deficiency Inflammatory bowel disease IPEX IL-10 deficiency IL-10RA deficiency IL-10RB deficiency NEMO deficiency CD25 (poor mitogens) STAT5b (poor mitogens, GH insensitivity) XIAP (can test NOD signaling with MDP or TriDAP) Autoinflammatory disorders XLA
4 GENETICS: Cytogenetic abnormalities (e.g. multiradial chromosomes, breaks, deletions, isochromosomes) ICF (immunodeficiency, centromeric instability and facial anomalies Ataxia-telangiectasia DNA repair disorders HEMATOLOGY: Thrombocytopenia with microplatelets Autoimmune cytopenias Aplastic anemia Lymphadenopathy and hepatosplenomegaly Neutropenia Haemolytic anemia Hemophagocytic lymphohistiocytosis, fulminant or chronic infection by Epstein-Barr virus Marked leukocytosis Thrombocytopenia in a male X-linked thrombocytopenia AID (activation-induced cytidine deaminase) deficiency PNP deficiency LRBA deficiency IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X- linked) CD25 deficiency ALPS (autoinmune lymphoproliferative syndrome) XLP type 1 (SAP deficiency) Dyskeratosis congenita XLP (X-linked lymphoproliferative syndrome) ALPS (autoinmune lymphoproliferative syndrome) AID (activation-induced cytidine deaminase) deficiency UNG deficiency Severe congenital neutropenia Cyclic neutropenia CD40L deficiency XLA (X-linked agammaglobulinemia) WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis) Reticular dysgenesis (AK2 deficiency) Ikaros deficiency X-linked neutropenia (WASP gain-of-function mutation) PNP (purine nucleoside phosphorylase) deficiency Familial hemophagocytic lymphohistiocytosis (FHL) syndromes XLP types 1 or 2 Itk deficiency CD27 deficiency Magnesium channels defects Leukocyte adhesion defects (LAD) ALPS XLT (X-linked thrombocytopenia)
5 SCID with megaloblastic anemia Monocytosis Leukemia similarity MTHFD1 deficiency (hyperhomocysteinemia) NRAS/KRAS deficiency NRAS/KRAS deficiency INFECTOLOGY: Pneumonias, otitis and sinusitis by encapsulated bacteria Lung abscess, pneumatoceles Pneumocystis jiroveci pneumonia Infections by atypical mycobacteria (including BCG), disseminated tuberculosis Hepatic abscess Infections by Burkholderia cepacia, Chromobacterium violaceum, Serratia marcescens Disseminated infection by Histoplasma sp or Paracoccidioides sp Severe infection by Salmonella no typhi Fulminant or chronic infection by Epstein-Barr virus, hemophagocytic lymphohistiocytosis Herpes simplex encephalitis Trypanosomiasis Infections by Staphylococcus aureus Infections by Streptococcus pneumoniae Infections by Cryptosporidium Meningoencephalitis by enteroviruses Mucocutaneous candidiasis Complement deficiencies STAT3 associated Hyper-IgE syndrome CD4OL deficiency NEMO deficiency (ectodermal dysplasia with immunodeficiency) Defect in the IFN-γ/IL-12 axis STAT1 deficiency (AD) IRF8 (interferon regulatory factor 8) deficiency Defect in the IFN-γ/IL-12 axis CD40L deficiency Defect in the IFN-γ/IL-12 axis XLP types 1 or 2 Itk deficiency CD27 deficiency Magnesium channels defects Familial hemophagocytic lymphohistiocytosis (FHL) syndromes Defect in TLR3 pathway APOL-I deficiency Hyper-IgE syndrome IRAK4/MyD88 deficiency Complement deficencies IRAK4/MyD88 deficiency CD40L/CD40 deficiency IL-21R deficiency Agammaglobulinemia, X-linked Phagocyte defects
6 Severe infections by Neisseria sp Warts (Human papilloma virus recurrent infections) Infections by molluscum contagiosum Pyoderma gangrenosum Severe infections by influenza virus Chronic mucocutaneous candidiasis (CMC) and associated defects (APECED, IL-17F, IL-17RA, CARD9, STAT1) Complement deficiencies (late C-components) WHIM syndrome (warts, hypogammaglobulinemia, infections, myelokathexis) Epidermodysplasia verruciformis DOCK8 deficiency (hyper-ige syndrome) IRF8 deficiency DOCK8 deficiency (hyper-ige syndrome) IRF8 deficiency Agammaglobulinemias PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, acne) IRF7 deficiency INTERNALMEDICINE: Hemophagocytic lymphohistiocytosis Thymoma and hypogammaglobulinemia Recurrent respiratory infections, interstitial pneumonitis, granulomatosis, autoimmunity Defects in PRF1, MUNC13-4, STXBP2 Good syndrome LABORATORY: Elevated AFP and/or CEA Elevated DN αβ-t cells (>5%) Ataxia-telangiectasia ALPS (frequently normal in KRAS/NRAS deficiency) NEPHROLOGY: Atypical hemolytic-uremic syndrome Glomerulonephritis Complement deficiencies Complement deficiencies NEONATOLOGY: Eczema or erythroderma Hyper-IgE syndrome
7 Netherton syndrome Thymus aplasia Severe combined immunodeficiency Omphalitis, delayed umbilical cord Leukocyte adhesion defects (LAD) separation, (later than 40 days of age) Typical facies Deficiency of Cernunnos, ligase IV, etc. STAT3 deficiency (hyper-ige syndrome) Neonatal diabetes Neonatal tetany or seizures Calcium channels defects (ORAI1, STIM1) ORTHOPEDICS AND TRAUMATOLOGY: Skeletal abnormalities Septic arthritis STAT3 deficiency Reticular dysgenesis (AK2 deficiency): squaring of the scapular tips; cupping and fraying of the rib costochondral junctions anteriorly Schimke immuno-osseous dysplasia (spondyloepiphyseal dysplasia, dysplastic hips, small capital femoral epiphysis) Cartilage-hair hypoplasia (chest deformities with flaring of ribs, fixed flexion deformity in elbow, long distal fibula, cone shaped epiphysis in the phalanges) IRAK4/MyD88/TIRAP deficiency PNEUMONOLOGY: Pneumonias, otitis and sinusitis by encapsulated bacteria Lung abscess, pneumatoceles Pneumocystis jiroveci pneumonia Infections by atypical mycobacteria (including BCG), disseminated tuberculosis Pulmonary alveolar proteinosis Interstitial pneumonitis Complement deficiencies Hyper-IgE syndrome CD4OL deficiency NEMO deficiency (ectodermal dysplasia with immunodeficiency) Defect in the IFN-γ/IL-12 axis STAT1 deficiency (AD) IRF8 (interferon regulatory factor 8) deficiency ISG15 deficiency CSF2RA deficiency
8 STAT5b deficiency NEUROLOGY: Ataxia Microcephaly Deafness Tetraphlegy Cerebellar hypoplasia Herpes simplex encephalitis Meningoencephalitis by Neisseria sp Ataxia-telangiectasia Ataxia-telangiectasia like disease (ATLD) PNP deficiency Cernunnos deficiency Ligase IV deficiency Ligase I deficiency Nijmegen breakage syndrome Dyskeratosis congenita Reticular dysgenesis ADA deficiency PNP deficiency Dyskeratosis congenita Defect in TLR3 pathway Complement deficiencies (late components) DENTISTRY: Ectodermal dysplasia (scanty hair, thin skin, hypohidrosis, defective tooth formation, conic teeth, abnormal nails) Severe periodontal disease Retained primary dentition NEMO deficiency (ectodermal dysplasia with immunodeficiency) IκBa deficiency (ectodermal dysplasia with immunodeficiency) Phagocyte defects (neutropenia, LAD, CGD) STAT3 deficiency (hyper-ige syndrome) ONCOLOGY: EBV-related neoplasms (manly lymphomas) HPV-related neoplasms Susceptibility to neoplasms Colon and/or brain cancer (including hereditary nonpolyposis colon carcinoma) Ataxia telangiectasia Wiskott-Aldrich Syndrome XLP Epidermodysplasia verruciformis GATA2 deficiency DOCK8 deficiency Bloom syndrome PMS2 deficiency OPHTALMOLOGY: Coloboma Cohen syndrome
9 Aniridia Conjunctival telangiectasia Ataxia-telangiectasia ORTHOPEDICS: Septic arthritis Metaphyseal dysostosis Complement deficiencies (Neisseria sp infections) IRAK4/MyD88 deficiencies Cartilage-hair hypoplasia ADA deficiency OTORHINOLARYNGOLOGY: Atresia choanae, deafness Recurrent or complicated sinusitis Recurrent or complicated otitis Velopharyngeal insufficiency Deafness Reticular dysgenesis ADA deficiency RADIOLOGY: Thymic aplasia Pneumatoceles Granulomatous lesions Severe combined immunodeficiency (SCID) STAT3 associated hyper-ige syndrome RHEUMATOLOGY: Lupus-like syndrome Autoimmune cytopenias Juvenile arthritis Recurrent fever, serositis, arthritis Septic arthritis Complement deficiencies (classical pathway) PRKCD (PKCδ deficiency) ALPS AID (activation-induced cytidine deaminase) deficiency PNP deficiency LRBA deficiency ALPS Autoinflammatory disorders Cyclic neutropenia Complement deficiencies (Neisseria sp infections) IRAK4/MyD88 deficiencies
10 Metaphyseal dysostosis Cartilage-hair hypoplasia ADA deficiency
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