Red Flag Guidelines for Primary Immunodeficiency

Red Flags signs for suspicion of Inborn Errors of Immunity
Four or more new ear infections within 1 year.
Two or more serious sinus infections within 1 year.
Two or more months on antibiotics with little effect.
Two or more pneumonias within 1 year.
 Failure of an infant to gain weight or grow normally.
Recurrent, deep skin or organ abscesses.
Persistent thrush in mouth or fungal infection on skin.
Need for intravenous antibiotics to clear infections.
Two or more deep-seated infections including septicemia.
A family history of PID.

Additional Information

Symptoms for specific categories of Inborn Errors of Immunity

Inborn Errors of Immunity CategorySymptom
Combined T-cell and B-cell immunodeficienciesIn the first 6 months of life Failure to thrive Chronic diarrhea Persistent oral thrush Skin rash Pneumonia Sepsis Prolonged interstitial pneumonia of viral etiology Developmental delay Hypertonia Spasticity Tremors, ataxia Retarded motor development Behavioral difficulties  Varying degrees of mental retardation Lymphopenia Absence of Thymus BCGosis or BCGitis Vaccinia post varicella vaccination
Predominantly antibody deficienciesRecurrent sinopulmonary infections due to S. pneumonia or H. influenza Otitis media Septicemia Recurrent Giardiasis Enterovirus Encephalitis Vaccine associated paralytic poliomyelitis Arthritis with H/o infections
Other well defined immunodeficiency syndromesGait abnormalities Neurodevelopmental delay Progressive cerebellar ataxia with discrete or pronounced telengiectasia involving the conjunctiva ears and sometimes face  Cardiac defects with hypoplastic thymus Hypocalcemia  Facial dysmorphism Eczema  Recurrent staphylococcal skin boils Recurrent pneumonia with pneumatocele formation Disseminated moluscum contagiosum Disseminated viral warts  Recurrent herpes zoster infection Multiple connective tissue and skeletal abnormalities Central nervous system abnormalities Petechiae Recurrent sino-pulmonary manifestations  Thrombocytopenia Ectodermal dysplasia, conical tooth Retained primary dentition
Diseases of immune dysregulationChronic nonmalignant lymphadenopathy Chronic Splenomegaly  Chronic immune cytopenias Mucocutaneous albinism   Elevated ALC with recurrent non-malignant lymphadenopathy and spleno-hepatomegaly Autoimmune cytopenias Hematolymphoid malignancies EBV-associated lymphoma Evan’s Syndrome VEOIBD Endocrinopathies with autoimmunity IDDM, Hypoparathyroidism, Hypothyroidism, hypopituitarism Lymphoid CNS infiltration Lymphoid interstitial pneumonia Suscpicion of HLH: fever, HSmegaly pancytopenia, LFT abnormalities, coagulopathy, high ferritin values.
Congenital defects of phagocyte number and functionDelayed separation of umbilical cord beyond 2 weeks along with omphalitis Severe mental retardation Short stature A distinctive facial appearance  Rare Bombay (Hh) phenotype Eczematous rash with deep seated abscesses Persistent neutrophilia even in the absence of active infection Infection with absence of pus Infection with Catalase +ve Organisms like: Burkholderia cepacoa, Serratia Marsecenes, Pseudomonas aeruginosa, Aspergillosis ina non neutropenic setting, Nocardia infection to r/o CGD. All lung abscess, Liver abscess and Osteomyelitis to do NBTto r/o CGD. Poor wound healing Recurrent gingivostomatitis
Complement deficiencies.Autoimmune disease  Pyogenic infections  Serious infections from Neisseria species Recurrent pneumonia Recurrent meningitis Recurrent peritonitis
IL12-23/IFNG loop defectBCGosis without FTT NTM infection Recurrent salmonellosis Infection with non typhi salmonella organism. Listeria monocytogenes infection Histoplasmosis L. Donovani BCGosis with CMV, Other viral infections Multifocal bone TB BCGosis + Fungal infection
CMCChronic mucocutaneous candidiasis Invasive dermatophyte infection
Inflammatory disordersFever with periodicity Evanescent recurrent rash, pusyular rash Lipodystrophy Sterile osteomyelitis Recurrent waxing & waning lymphadenopathy Brain calcification Pyoderma gangrenosum VEOIBD Recurrent pain in abdomen