Immunodeficiency, and Recurrent respiratory infections

Diseases related with Immunodeficiency and Recurrent respiratory infections

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

Top matches:

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).

COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY Is also known as cid due to moesin deficiency|msn-related combined immunodeficiency|immunodeficiency 50, x-linked recessive|x-linked moesin-associated immunodeficiency

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Neutropenia
  • Decreased antibody level in blood
  • Eczema


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY

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

Other less relevant matches:

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY

Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Is also known as myd88 deficiency|pyogenic bacterial infections, recurrent, due to myd88 deficiency|recurrent pyogenic bacterial infections due to myd88 deficiency

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent bacterial skin infections


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY

Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CARD11 DEFICIENCY Is also known as scid due to card11 deficiency|card11 immunodeficiency|imd11|immunodeficiency 11

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory tract infection


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CARD11 DEFICIENCY

Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.

IMMUNODEFICIENCY DUE TO INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE-4 DEFICIENCY Is also known as irak4d|irak4 deficiency

Related symptoms:

  • Neoplasm
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Neutropenia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE-4 DEFICIENCY

IMMUNODEFICIENCY 25; IMD25 Is also known as immunodeficiency due to defect in cd3-zeta

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Recurrent pneumonia
  • Eosinophilia
  • Recurrent skin infections


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY 25; IMD25

Immunodeficiency-20 is a rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Patient NK cells are defective in spontaneous cell cytotoxicity, but retain antibody-dependent cellular cytotoxicity. Patients typically present early in childhood with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV) (summary by Grier et al., 2012).

AUTOSOMAL RECESSIVE PRIMARY IMMUNODEFICIENCY WITH DEFECTIVE SPONTANEOUS NATURAL KILLER CELL CYTOTOXICITY Is also known as autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity|cd16 deficiency

Related symptoms:

  • Immunodeficiency
  • Otitis media
  • Recurrent otitis media
  • Sinusitis
  • Recurrent sinusitis


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PRIMARY IMMUNODEFICIENCY WITH DEFECTIVE SPONTANEOUS NATURAL KILLER CELL CYTOTOXICITY

Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4

Top 5 symptoms//phenotypes associated to Immunodeficiency and Recurrent respiratory infections

Symptoms // Phenotype % cases
Decreased antibody level in blood Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases
Recurrent bacterial infections Uncommon - Between 30% and 50% cases
Fever Rare - less than 30% cases

Other less frequent symptoms

Patients with Immunodeficiency and Recurrent respiratory infections. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Pneumonia Agammaglobulinemia Neutropenia Hepatomegaly Otitis media Recurrent pneumonia Eosinophilia Recurrent skin infections Erythroderma Decrease in T cell count Protracted diarrhea Susceptibility to herpesvirus Recurrent otitis media Recurrent staphylococcal infections Sinusitis Recurrent sinusitis Intellectual disability Global developmental delay Hypertelorism Abnormal facial shape Motor delay Depressed nasal bridge Diarrhea Recurrent streptococcus pneumoniae infections Renal insufficiency Recurrent urinary tract infections Thrombocytopenia Arthralgia Proteinuria Skin rash Purpura Glomerulonephritis Lymphopenia Lymphadenopathy Cellulitis Abnormality of immune system physiology Recurrent bacterial skin infections Eczema Combined immunodeficiency Severe combined immunodeficiency Neoplasm Sepsis Osteomyelitis Epicanthus


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Tremor and Alzheimer disease, related diseases and genetic alterations Epicanthus and Distal amyotrophy, related diseases and genetic alterations Pain and Anxiety, related diseases and genetic alterations