Autoimmunity, and Sepsis

Diseases related with Autoimmunity and Sepsis

In the following list you will find some of the most common rare diseases related to Autoimmunity and Sepsis that can help you solving undiagnosed cases.


Top matches:

Medium match COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY


Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY Is also known as combined immunodeficiency with expansion of gamma delta t cells|cid due to partial rag1 deficiency|cid with expansion of gamma delta t cells

Related symptoms:

  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Autoimmunity
  • Sepsis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY

Medium match IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA


IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Is also known as immunodeficiency, isolated|immunodeficiency, pure

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Hemolytic anemia
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA

Medium match IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY


Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.

IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY Is also known as lectin complement activation pathway, defect in, 2|lcapd2

Related symptoms:

  • Pneumonia
  • Myalgia
  • Erythema
  • Autoimmunity
  • Sepsis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY

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Other less relevant matches:

Medium match IMMUNODEFICIENCY WITH FACTOR H ANOMALY


Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properin, complement C3 and terminal complement components.

IMMUNODEFICIENCY WITH FACTOR H ANOMALY Is also known as factor h deficiency|cfh deficiency

Related symptoms:

  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria
  • Abnormality of the kidney
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH FACTOR H ANOMALY

Medium match IMMUNODEFICIENCY WITH FACTOR I ANOMALY


Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.

IMMUNODEFICIENCY WITH FACTOR I ANOMALY Is also known as complement component 3 inactivator deficiency|c3 inactivator deficiency

Related symptoms:

  • Fever
  • Renal insufficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY WITH FACTOR I ANOMALY

Medium match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Low match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Low match DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME


Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.

DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME Is also known as david syndrome

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Fatigue
  • Alopecia
  • Nail dystrophy


SOURCES: ORPHANET MENDELIAN

More info about DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

Low match MULTIPLE INTESTINAL ATRESIA


Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

Low match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Sepsis

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Pneumonia Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Recurrent bacterial infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Sepsis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hemolytic anemia Failure to thrive Diarrhea Thyroiditis Autoimmune hemolytic anemia Vasculitis Splenomegaly Recurrent otitis media Recurrent infections Fever Nephritis Decreased antibody level in blood Nephrotic syndrome Systemic lupus erythematosus Alopecia Severe combined immunodeficiency

Rare Symptoms - Less than 30% cases


Recurrent pneumonia Global developmental delay Bronchiectasis Arthritis Thickened skin Chronic diarrhea Abnormal lymphocyte morphology Recurrent sinusitis Severe B lymphocytopenia Nail dystrophy Hepatomegaly Hypoplasia of the thymus Growth delay Decreased serum complement factor H Intrauterine growth retardation Hypothyroidism Lymphadenopathy Hepatitis Inflammatory abnormality of the skin Hashimoto thyroiditis Type I diabetes mellitus Abnormal intestine morphology Eosinophilia Erythroderma Combined immunodeficiency IgA deficiency Otitis media Mesangial hypercellularity IgG deficiency Renal insufficiency Psoriasiform dermatitis Proteinuria Hematuria Impaired memory B cell generation Increased IgM level Chronic kidney disease Glomerulonephritis Meningitis Recurrent lower respiratory tract infections Hemolytic-uremic syndrome B lymphocytopenia Decreased circulating androgen level Small for gestational age Omphalocele Intestinal malrotation Abdominal distention Growth hormone deficiency Hypotension Diplopia Absence seizures Recurrent upper respiratory tract infections Alopecia totalis Decreased circulating ACTH level Hypoglycemic coma Anal atresia Hyponatremia Hyperkalemia Scarring Decreased serum insulin-like growth factor 1 Abnormality of the skeletal system Recurrent bronchitis Abnormal size of pituitary gland Generalized lymphadenopathy Recurrent hypoglycemia Adrenocorticotropin deficient adrenal insufficiency Abnormality of the periungual region Ventricular septal defect Autoimmune antibody positivity Recurrent pharyngitis Vitiligo Polyhydramnios Decreased circulating cortisol level Autoimmune thrombocytopenia Severe viral infections Sparse hair Protracted diarrhea Lymphopenia Abnormality of the metaphysis Hepatosplenomegaly Skin rash Papule Pruritus Hypotrichosis Dry skin Lymphoma Short toe Edema Increased body weight Shock Cellular immunodeficiency Disproportionate short-limb short stature Scaling skin Leukocytosis Aplasia/Hypoplasia of the eyebrow Recurrent viral infections Severe short stature Abnormality of the ductus choledochus Inflammation of the large intestine Ectopic calcification Absent eyebrow Alopecia of scalp Abnormality of abdomen morphology Hypoproteinemia Recurrent fungal infections Hematochezia Duodenal atresia Intestinal atresia Duodenal stenosis Metaphyseal chondrodysplasia Bloody diarrhea Rectal abscess Jejunal atresia Gastrointestinal atresia Decreased proportion of CD8-positive T cells Jejunoileal ulceration Congenital cystic adenomatoid malformation of the lung Peritoneal abscess Microcolon Neurodegeneration Fatigue Pyelonephritis Depletion of components of the alternative complement pathway Recurrent respiratory infections Respiratory tract infection Recurrent urinary tract infections Sinusitis Purpura Recurrent skin infections Septic arthritis Thickening of the glomerular basement membrane Decreased serum complement C3 Recurrent streptococcus pneumoniae infections Tonsillitis Recurrent meningococcal disease Recurrent meningitis Decreased serum complement factor B Decreased serum complement factor I Glomerular deposits Glomerular subendothelial electron-dense deposits Macroscopic hematuria Diabetes mellitus Ulcerative colitis Decrease in T cell count Interstitial pneumonitis Autoimmune neutropenia Ectodermal dysplasia Recurrent mycobacterium avium complex infections Myalgia Erythema Colitis Chronic obstructive pulmonary disease IgA deposition in the glomerulus Complement deficiency Abnormality of the kidney Stage 5 chronic kidney disease Nephropathy Psychosis Lipodystrophy Drusen Membranoproliferative glomerulonephritis Recurrent Haemophilus influenzae infections Eczema IgE deficiency Chronic hepatitis Encephalitis Hepatocellular carcinoma Gingivitis Agammaglobulinemia Cholangitis Stomatitis IgM deficiency Dysgammaglobulinemia Involuntary movements Sclerosing cholangitis Cholangiocarcinoma Decreased T cell activation Impaired Ig class switch recombination Absence of lymph node germinal center Enlarged tonsils Agranulocytosis Opportunistic infection Leukoencephalopathy Clumsiness Cardiac arrest Pancreatic hypoplasia Hyperglycemia Abnormality of the coagulation cascade Malnutrition Abnormality of the thyroid gland Ketoacidosis Villous atrophy Immune dysregulation Ileus Intractable diarrhea Choreoathetosis Secretory diarrhea Seizures Cognitive impairment Dysarthria Weight loss Carcinoma Abnormality of the liver Neutropenia Desquamation of skin soon after birth



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