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ABSTRACT
Introduction
Congenital immunodeficiency is named primary immunodeficiency (PID), and more recently inborn errors of immunity (IEI). There are more than 485 conditions classified as IEI, with a wide spectrum of clinical and laboratory manifestations.
Areas covered
Regardless of the developing knowledge of IEI, many physicians do not think of IEI when approaching the patient’s complaint, which leads to delayed diagnosis, misdiagnosis, serious infectious and noninfectious complications, permanent end-organ damage, and even death. Due to the various manifestations of IEI and the wide spectrum of associated conditions, patients refer to specialists in different disciplines of medicine and undergo – mainly symptomatic – treatments, and because IEI are not included in physicians’ differential diagnosis, the main disease remains undiagnosed.
Expert opinion
A multidisciplinary approach may be a proper solution. Manifestations and the importance of a multidisciplinary approach in the diagnosis of main groups of IEI are discussed in this article.
Article highlights
IEI, as a rapidly growing field, requires a multidisciplinary approach to apply the molecular and preclinical findings in practice.
Considering the effect of childhood-onset chronic diseases on patients’ lives, both in childhood and adulthood, correct and timely diagnosis would contribute to reducing the disease burden.
Patients with underlying IEI may be referred to different medical specialties, probably based on their first manifestation.
Hence, a multidisciplinary approach is essential in approaching patients with suspected IEI.
In some cases, the initial manifestation is only the tip of the iceberg. It highlights the importance of a multidisciplinary approach to diagnosing IEI.
Abbreviations
| ALPS | = | Autoimmune lymphoproliferative syndrome |
| APECED | = | Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy |
| APLAID | = | Autoinflammation and PLCγ2-associated antibody deficiency and immune dysregulation |
| AT | = | Ataxia telangiectasia |
| CANDLE | = | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature |
| CGD | = | Chronic granulomatous disease |
| CHS | = | Chédiak-Higashi syndrome |
| CID | = | Combined immunodeficiency |
| CINCA | = | Chronic infantile cutaneous and articular syndrome |
| CVID | = | Common variable immunodeficiency |
| EDA-ID | = | Anhidrotic ectodermal dysplasia with immune deficiency |
| FCAS | = | Familial cold autoinflammatory syndrome |
| FHL | = | Familial hemophagocytic lymphohistiocytosis |
| FMF | = | Familial Mediterranean fever |
| GS2 | = | Griscelli syndrome type 2 |
| GSD | = | Glycogen storage disease |
| HIES | = | Hyper IgE syndrome |
| HIGM | = | Hyper IgM syndrome |
| HPS2 | = | Hermansky-Pudlak syndrome type 2 |
| IPEX | = | Immune-dysregulation, polyendocrinopathy, enteropathy, X-lined syndrome |
| LAD | = | Leukocyte adhesion deficiency |
| MKD | = | Mevalonate kinase deficiency |
| MSMD | = | Mendelian susceptibility to mycobacterial disease |
| MWS | = | Muckle-Wells syndrome |
| PAPA | = | Pyogenic arthritis, pyoderma gangrenosum and acne |
| SCID | = | Severe combined immunodeficiency |
| SCN | = | Severe congenital neutropenia |
| SDS | = | Shwachman-Diamond syndrome |
| SIAD | = | Selective IgA deficiency |
| TRAPS | = | Tumor necrosis factor receptor-associated periodic syndrome |
| VEO-IBD | = | Very early-onset inflammatory bowel disease |
| WAS | = | Wiskott-Aldrich syndrome |
| WHIM | = | Warts, hypogammaglobulinemia, infections, myelokathexis syndrome |
| XLA | = | X-lined agammaglobulinemia |
| ASD | = | Atrial septal defect |
| AIHA | = | Autoimmune hemolytic anemia |
| ADHD | = | Attention deficit hyperactivity disorder |
| TLR | = | Toll-like receptor |
| CF | = | Cystic fibrosis |
| CFSE | = | Carboxyfluorescein succinimidyl ester |
| CAPS | = | Cryopyrin-associated periodic syndrome |
| CHAPLE | = | CD55 deficiency with Hyper-activation of complement, Angiopathic thrombosis, and severe Protein-Losing Enteropathy |
| CBM | = | CARD-BCL10-MALT1 |
| DN | = | Dominant negative |
| DHR | = | Dihydrorodamine |
| DAF | = | decay accelerating factor |
| FTT | = | Failure to thrive |
| FHL | = | Familial hemophagocytic lymphohistiocytosis |
| GOF | = | Gain-of-function |
| LOF | = | Loss-of-function |
| HIV | = | Human immunodeficiency virus |
| HSCT | = | Hematopoietic stem cell transplantation |
| HSV | = | Herpes simplex virus |
| VZV | = | Varicella-zoster virus |
| HLH | = | Hemophagocytic lymphohistiocytosis |
| IEI | = | Inborn errors of immunity |
| IBD | = | Inflammatory bowel disease |
| ITP | = | Immune thrombocytopenic purpura |
| MHC | = | Major histocompatibility complex |
| MCP | = | Membrane cofactor protein |
| NBT | = | Nitrobluetetrazolium |
| PID | = | Primary immunodeficiency disease |
| PAD | = | Primary antibody deficiency |
| PNP | = | Purine nucleoside phosphorylase |
| SNHL | = | Sensory neural hearing loss |
| TREC | = | T cell receptor excision cycle |
| T1DM | = | Type 1 diabetes mellitus |
| VSD | = | Ventricular septal defect |
Declaration of interest
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
Reviewer disclosures
Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.