Immunodeficiency, and Nephritis

Diseases related with Immunodeficiency and Nephritis

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

Top matches:

IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 Is also known as antibody deficiency due to cd81 defect

Related symptoms:

  • Hepatomegaly
  • Renal insufficiency
  • Immunodeficiency
  • Thrombocytopenia
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6

COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.

IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY Is also known as fcn3 deficiency|lectin complement activation pathway, defect in, 3|lcapd3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY

Other less relevant matches:

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 Is also known as antibody deficiency due to cd19 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Pneumonia
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3

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

Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous DiseaseChronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (OMIM ), caused by mutation in the CYBA gene (OMIM ); autosomal recessive cytochrome b-positive CGD type I (OMIM ), caused by mutation in the NCF1 gene (OMIM ); autosomal recessive cytochrome b-positive CGD II (OMIM ), caused by mutation in the NCF2 gene (OMIM ); and autosomal recessive cytochrome b-positive CGD type III (OMIM ), caused by mutation in the NCF4 gene (OMIM ).A similar syndrome, termed neutrophil immunodeficiency syndrome (OMIM ), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (OMIM ).

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX Is also known as cytochrome b-negative granulomatous disease, chronic, x-linked|cgd|chronic granulomatous disease, x-linked

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX

Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013).For a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 Is also known as cvid9, formerly|immunodeficiency, common variable, 9, formerly

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Nephritis

Symptoms // Phenotype % cases
Recurrent infections Very Common - Between 80% and 100% cases
Glomerulonephritis Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Autoimmunity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Nephritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Nephrotic syndrome Nephropathy Pneumonia Lymphadenopathy Skin rash Purpura Growth delay Proteinuria Discoid lupus rash Membranoproliferative glomerulonephritis Hepatosplenomegaly Renal insufficiency Arthritis Systemic lupus erythematosus

Rare Symptoms - Less than 30% cases

Microscopic hematuria Thyroiditis Glomerulopathy Lymphocytosis Meningitis Hepatitis IgA deposition in the glomerulus Pyelonephritis Sinusitis Recurrent sinusitis Erythema Pharyngitis Failure to thrive Anemia Inflammatory abnormality of the skin Eczema Diabetes mellitus Sepsis Hypertension Hematuria Immune dysregulation Recurrent skin infections Recurrent bacterial infections Decreased antibody level in blood Splenomegaly Myopathy Intellectual disability Increased antibody level in blood Recurrent respiratory infections Membranous nephropathy Hemolytic anemia Aspiration Pulmonary fibrosis Osteomyelitis Progressive proximal muscle weakness Severe failure to thrive Recurrent pharyngitis Gastrointestinal inflammation Recurrent Staphylococcus aureus infections Lymphadenitis Liver abscess Colitis Cellulitis Chorioretinitis Rectal abscess Intestinal obstruction Recurrent bacterial skin infections Recurrent pneumonia Eczematoid dermatitis Granulomatosis Muscular dystrophy Peritonitis Pulmonary infiltrates Carcinoma Elevated erythrocyte sedimentation rate Decreased activity of NADPH oxidase Hirsutism Progressive loss of facial adipose tissue Loss of truncal subcutaneous adipose tissue Decreased serum complement C3 Progeroid facial appearance Abnormality of lipid metabolism Lipoatrophy Premature ovarian insufficiency Lipodystrophy Polycystic ovaries Generalized hirsutism Insulin resistance Hypertrichosis Hypertriglyceridemia Hepatic steatosis Alopecia Recurrent Aspergillus infections Recurrent Burkholderia cepacia infections Recurrent Klebsiella infections Bladder carcinoma Recurrent Serratia marcescens infections Recurrent E. coli infections Absence of bactericidal oxidative respiratory burst in phagocytes Negative nitroblue tetrazolium reduction test Deficiency or absence of cytochrome b(-245) Hearing impairment Shock Psoriasiform dermatitis Autoimmune thrombocytopenia Lymphoproliferative disorder Generalized lymphadenopathy Seizures Leukocytosis Malnutrition Progressive muscle weakness Cataract Bronchiolitis Gastritis Conjunctivitis Recurrent otitis media Otitis media Stage 5 chronic kidney disease Respiratory tract infection Decreased serum complement factor I Loss of eyelashes Macroscopic hematuria Facial erythema Keratitis Fever Pain Recurrent bronchiolitis Recurrent abscess formation Enterocolitis Verrucae Recurrent lower respiratory tract infections Ventricular septal defect Microcephaly Vasculitis in the skin Angioedema Antinuclear antibody positivity Fatigable weakness Rheumatoid arthritis Vasculitis Leukemia Helicobacter pylori infection Chronic gastritis Dilated cardiomyopathy Ileus Abnormality of the liver Myalgia Proximal muscle weakness Elevated hepatic transaminase Elevated serum creatine phosphokinase Congestive heart failure Cardiomyopathy Ptosis Muscle weakness Scoliosis Secretory diarrhea Intractable diarrhea Pancreatic hypoplasia Villous atrophy Intrauterine growth retardation Ketoacidosis Autoimmune hemolytic anemia Abnormality of the thyroid gland Abnormality of the coagulation cascade Hyperglycemia Erythroderma Eosinophilia Abnormal intestine morphology Type I diabetes mellitus Cardiac arrest Hypothyroidism Diarrhea Loss of subcutaneous adipose tissue from upper limbs


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