Arthritis, and Inflammation of the large intestine

Low match AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6

• Arthritis
• Systemic lupus erythematosus
• Rheumatoid arthritis
• Colitis
• Ulcerative colitis

SOURCES: OMIM MENDELIAN

Low match AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7

AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7 Is also known as agammaglobulinemia, autosomal recessive, due to pik3r1 defect

• Pneumonia
• Recurrent respiratory infections
• Arthritis
• Erythema
• Neutropenia

SOURCES: OMIM MENDELIAN

Low match IMMUNODEFICIENCY 57; IMD57

• Failure to thrive
• Vomiting
• Diarrhea
• Immunodeficiency
• Recurrent infections

SOURCES: OMIM MENDELIAN

Low match SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1

Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated spondyloarthropathy (Miceli-Richard et al., 2004). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease (Said-Nahal et al., 2000, Said-Nahal et al., 2001).Braun and Sieper (2007) provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management. Genetic Heterogeneity of Susceptibility to SpondyloarthropathyAdditional susceptibility loci for spondyloarthropathy have been identified on chromosome 9q31-q34 (SPDA2 ) and chromosome 2q36 (SPDA3 ).

SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 Is also known as ankylosing spondylitis, susceptibility to|marie-strumpell spondylitis|bechterew syndrome

• Pain
• Kyphosis
• Arrhythmia
• Photophobia
• Arthritis

SOURCES: OMIM ORPHANET MENDELIAN

Low match IMMUNODEFICIENCY 36; IMD36

IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

• Growth delay
• Diarrhea
• Splenomegaly
• Immunodeficiency
• Recurrent respiratory infections

SOURCES: OMIM MENDELIAN

Low match PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome|nlrc4-related infantile enterocolitis-autoinflammatory syndrome|nlrc4-related autoinflammatory syndrome with macrophage activation syndrome|nlrc4-related mas|nlrc4-related autoinflammatory syndrome with mas

• Seizures
• Short stature
• Failure to thrive
• Pain
• Anemia

SOURCES: OMIM ORPHANET MENDELIAN

Low match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

• Short stature
• Pain
• Anemia
• Abnormality of the dentition
• Immunodeficiency

SOURCES: OMIM ORPHANET MENDELIAN

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

• Seizures
• Short stature
• Growth delay
• Hypertension
• Hepatomegaly

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match FAMILIAL MEDITERRANEAN FEVER

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

• Seizures
• Pain
• Anemia
• Hepatomegaly
• Fever

SOURCES: OMIM ORPHANET MENDELIAN

Low match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

• Growth delay
• Neoplasm
• Failure to thrive
• Anemia
• Diarrhea

SOURCES: OMIM ORPHANET MENDELIAN